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Objective To explore the clinical efficacy and related complications of allogeneic hematopoietic stem cell transplantation in the treatment of thalassemia. Methods A retrospective analysis of the efficacy and related complications of 54 patients with thalassemia who underwent allogeneic hematopoietic stem cell transplantation in the Department of Hematology of the hospital from November 2018 to September 2021. Results The implantation rate was 100.0%, the thalassemia-free survival rate was 98.1%, and there were 8 cases of acute graft-versus-host disease (aGVHD), the incidence rate was 14.8%. Further analysis of the related risk factors for aGVHD showed that there were statistical differences among different donor sources (P< 0.05). Among other related complications of transplantation, there was a statistical difference between age and CMV(P<0.05), and there was a statistical difference between donor source and hemorrhagic cystitis(HC) (P <0.05). Conclusion Allogeneic hematopoietic stem cell transplantation can effectively treat thalassemia, and donor source and age may be risk factors for complications after transplantation. [ABSTRACT FROM AUTHOR]

Copyright of Biology Teaching is the property of East China Normal University and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective To investigate the blood transfusion compatibility test results of a child with thalassemia after delayed hemolysis reaction, and to formulate transfusion strategies based on other clinical data to ensure the safety of clinical blood use. Methods A comprehensive analysis was conducted on the transfusion compatibility test results of a child with thalassemia, combined with Rh blood type system detection, blood transfusion history, serum bilirubin changes, clinical symptoms and other data to determine the occurrence of delayed hemolytic reaction, and formulate the subsequent appropriate blood matching strategies. Results On admission, the blood type of the patient was B DccEE, with hemoglobin (Hb) 38 g/L, reticulocyte ratio (Ret%) 2.92%, total bilirubin (TBil) 65.8 μmol/L, direct bilirubin (DBil) 12.0 μmol/L, indirect Bilirubin (IBil) 53.8 μmol/L, negative for unexpected antibody screening, no agglutination or hemolysis on both primary and secondary sides of the cross-matching over with type B DCcEe donors, negative for direct anti human globulin test(DAT), negative for indirect anti human globulin test (IAT), lactate dehydrogenase(LDH) 1 050 U/L, aspartate aminotransferase(AST) 113 U/L, urine occult blood 2+, urine bilinogen 4+, and a history of red blood cell transfusion 5 days before admission. The above results indicated that the child had a delayed hemolytic reaction, then type B DccEE leukocyte-depleted suspension red blood cell was transfused, and various indicators improved after transfusion. Conclusion Appropriate blood matching strategies should be formulated based on the results of blood transfusion compatibility testing and other clinical data before transfusion for children with thalassemia in order to effectively ensure transfusion safety.

Objective To summarize the types of rare hemoglobin-coding gene defects and their phenotypes in Chinese population, aimed at providing reference for genetic counseling of couples in childbearing age from areas with high prevalence of thalassemia. Methods By investigating the literature at home and abroad on the prevalence and phenotypes of thalassemia published between 2011 and 2021, and combining with four rare thalassemia mutant genes discovered in our clinical work, the types of rare hemoglobin-coding gene defects in China were summarized, and the characteristics and phenotypes were outlined through International Human Abnormal Hemoglobin Database. Results Aside from 23 common thalassemia genes, rare hemoglobin-coding gene defects have been detected in 11 provinces in southern China. Of the 109 rare α alleles, 41 alleles (including 9 hemoglobin variants) had been identified to cause α-thalassemia, 39 hemoglobin variants, 2 copy number repeats, 5 single nucleotide polymorphism, and 22 new point mutation with unclear function. Of the 160 rare β alleles, 89 alleles had been identified to cause β-thalassemia, 41 hemoglobin variants, 6 single nucleotide polymorphism, and 24 new point mutation with unclear function. Conclusion This study, based on the discovery of rare thalassemia gene in clinical work, explored the types of rare hemoglobin-coding gene defects and their phenotypes in Chinese population in recent years and provided reference for genetic counseling of thalassemia.

Objective: To investigate the genotype and gene frequency of thalassemia in people of childbearing age in Guangzhou and analyze the causes of screening misses. This study can provide genetic guidance to the thalassemia gene carriers of childbearing age. Methods: 31455 reproductive patients who underwent screening and genetic diagnosis of thalassemia from January 2019 to December 2021 were enrolled in this study. The results of laboratory tests related to thalassemia were analyzed, including routine blood examination, erythrocyte fragility test, hemoglobin electrophoresis, and genetic diagnosis of thalassemia. Calculated the thalassemia carrying rate and found the screening missed and misdiagnosed cases by comparing the results of screening and genetic testing. Results: A total of 4455 patients were found to have thalassemia gene mutations, including 3365 of α-thalassemia, 914 of β-thalassemia and 176 of concurrent α-and β-thalassemia. The three most common mutations of α-thalassemia were--SEA/αα, -α3. 7/αα, and-α4. 2/αα, while the three most common mutations of β-thalassemia were βCD41-42 (-TCCT)/βN, βIVS-2-654 (C→T)/βN and β-28 (A→G)/βN. The most common mutation of αβ complex thalassemia was βCD41-42 (-TCCT)/βN/--SEA/αα. There were 731 missed cases, most of them were resting α-thalassemia. There were 4784 misdiagnosed cases, 2701 of them had normal erythrocyte osmotic brittleness and erythrocyte parameters were being misdiagnosed as carrying the thalassemia gene due to HbA2＜2. 5%and HbA＞97. 5%. Conclusions: The population of childbearing age in Guangzhou has a relatively high carrier ratio of thalassemia. Resting α-thalassemia was easy to be missed. [ABSTRACT FROM AUTHOR]

Objective To evaluate the feasibility of secondary transplantation for patients with acute leukemia after failure of the first haploidentical hematopoietic stem cell transplantation. Methods Two acute leukemia patients underwent the first haploidentical hematopoietic stem cell transplantation from two donors with thalassemia, and the number of collected CD34+ cells was 2.57×106 /kg and 1.99×106 /kg per donor, respectively. The first haploidentical hematopoietic stem cell transplantation failed. Secondary transplantation was performed from two non-thalassemia donors, and the number of collected CD34+ cells was 4.28×106 /kg and 5.75×106 /kg per donor, respectively. A reducedintensity conditioning regimen consisting of fludarabine (Flu), busulfan (Bu) and antithymocyte globulin (ATG) was adopted for the secondary transplantation. Results For two recipients, the time of secondary transplantation of neutrophil and platelet was +12 d and +10 d, +10 d and +10 d, respectively. Up to the final follow-up (+1 062 d and +265 d after secondary transplantation), the primary diseases of both two recipients have been completely relieved without evident post-transplantation complications. Conclusions Secondary transplantation with reduced-intensity conditioning regimen may successfully treat acute leukemia after failure of the first haploidentical hematopoietic stem cell transplantation. [ABSTRACT FROM AUTHOR]

Objective To investigate the gene carrying rate,gene mutation type and hematological characteristics of thalassemia in Dai nationality population of Dehong Prefecture, Yunnan Province. Methods A total of 591 Dai nationality gestational age population in Dehong were tested for thalassemia gene by next-generation sequencing technology. The sensitivity and specificity of the hemoglobin electrophoresis and blood routine tests were performed. Results A total of 289 cases (48.90%) were positive for thalassemia gene. Among them,231 cases were classified as α-thalassemia(39.09%) and 89 cases were β-thalassemia(15.06%). Five α-thalassemia genotypes and seven β-thalassemia genotypes were detected. For α-thalassemia, --SEA showed comparatively lower values for MCV and MCH; αCSα showed comparatively lower values for Hb A2 (P＜0.05). For the β-thalassemia,CD 26 (G＞A)had significantly lower Hb A values,and higher MCH values(P＜0.05). A new cut-off value for the thalassemia with the highest accuracy was proposed(MCV 83.55 fL,MCH 27.95 pg). Conclusions Thalassemia is common in Dai nationality population of Dehong. The most frequently identified types are －α3.7 and CD 26 (G＞A).

Objective: To observe the changes of the nutritional status calibrated by BMI and serum albumin in early -pregnant women with mild thalassemia, and iron metabolism levels, and to explore the relationship between nutritional status and iron metabolism in these pregnant women. Methods: The levels of serum iron (SI), serum ferritin (SF) and hemoglobin (Hb) in 634 pregnant women with mild thalassemia, from October 2018 to October 2020, were retrospectively analyzed. According to the nutritional status, the pregnant women were divided into the low weight-malnutrition group (group A), the low weight-good nutrition group (group B), the high weight-malnutrition group (group C) and the high weight-good nutrition group (group D). Results: With the increase of gestational age, the levels of SI, SF and Hb of pregnant women in the four groups showed a downward trend. The levels of SF and SI in group D were lower than those in other three groups at different gestational periods (all P＜0.05). The levels of SF in group A were higher than those in the other three groups in the middle and late pregnancy, the levels of SI were higher than those in the other three groups at different gestational periods, while the levels of Hb were lower than those in the other three groups at different gestational periods (all P＜0.05). Conclusions: Pregnant women with mild thalassemia, especially those with low weight - malnutrition and high weight-good nutrition, may have iron deficiency anemia. Therefore, it is necessary to dynamically monitor the level of iron metabolism during the pregnancy of mild thalassemia, and those with high iron load or good nutritional status in the early pregnancy should not be ignored. Nutrition or iron supplementation should be given to different individuals to reduce the risk of iron deficiency anemia. [ABSTRACT FROM AUTHOR]

Objective To study the yielding rate and distribution of unexpected antibodies in blood transfusion children with thalassemia in Yunnan province, and to explore the blood transfusion strategies. Methods From January 2016 to December 2021, 298 children with thalassemia, who received blood transfusion treatment in Kunming, Xishuangbanna, Wenshan, Dehong, Yuxi and Baoshan hospitals across Yunnan Province, were selected. The unexpected antibodies of blood plasma were screened by microcolumn gel card. The samples with positive antibodies were identified for alloantibody specificity. Results Unexpected antibodies were yielded in 67 out of 298(22.48%) transfused children with thalassemia. The positive rates of unexpected antibodies in boys and girls were 16.55%(24/145) and 28.10%(43/153), respectively. The positive rates of unexpected antibodies in Han, Dai, Zhuang, Yi, Bulang, Jinuo and Miao people were 14.06%(18/128), 30.80%(32/104), 35.71%(10/28), 36.36%(8/22), 50.00%(4/8), 60.00%(3/5)and 66.67%(2/3), respectively, with statistically significant differences between each other. The positive rate of unexpected antibodies in ethnic minorities was higher than that in Han. The positive rates of unexpected antibodies in children who received the first transfusion at birth-one year old, 1~3 years old, 3~6 years old and above 6 years old were 12.50%(3/24), 10.14%(7/69), 24.54%(40/163)and 40.48%(17/42), respectively. The positive rates of unexpected antibodies in children with first transfusion after 3 years old were significantly higher than those before 3 years old. The positive rates of unexpected antibodies in children with one transfusion, 1~3, 3~10, 10~20 and more than 20 transfusions were 4.76%(1/21), 12.07%(7/58), 23.71%(23/97), 28.16%(29/103)and 36.84%(7/19), respectively, with statistically significant differences between each other. The number of blood transfusions was positively correlated with the unexpected antibody yielding. The yielding rate of unexpected antibodies in children with α thalassemia, βthalassemia, δ+ βthalassemia and untyped thalassemia was 7.50%(3/40), 17.62%(34/193), 53.70%(29/54)and 9.09%(1/11), respectively(P

Objective To evaluate the implementation effect of the prevention and control project for thalassemia in Putian by analyzing the clinical and laboratory data related to screening and diagnosis of thalassemia in couples undergoing premarital examination. Methods The blood sample results of 62 058 newlywed couples and planned pregnant couples who participated in the premarital examination in Putian City, Fujian Province from April 2017 to December 2021 were retrospectively analyzed. The primary screening was carried out by detecting the average red blood cell volume and average hemoglobin content. When one of the couple was positive, the two sides were tested by hemoglobin（Hb） electrophoresis; When the couple’s Hb electrophoresis was positive, both parties shall performed thalassemia gene detection. The types of thalassemia gene mutations, the incidence of rare thalassemia, the distribution of mutations and the genetic characteristics of thalassemia gene in Putian City, Fujian Province were statistically analyzed, and the genetic map of thalassemia gene in Putian City, Fujian Province was drawn; Homotypic gene carrier and prenatal diagnosis were analyzed, and pregnancy outcomes were followed up. Results Among 62 058 couples, 8 938 had at least one abnormal partner during blood routine screening, and the positive rate of initial screening was 14. 40%. A total of 5 842 cases were Hb positive, the positive rate was 4. 71%. There were 413 couples with abnormal Hb electrophoresis. After gene detection, a total of 316 cases were diagnosed as thalassemia, and the diagnostic rate was 38. 26%. A total of 198 cases of α-thalassemia were detected, and the higher genotypes were--SEA/αα, -α3. 7/αα. A total of 114 cases of β-thalassemia were detected, and the higher genotypes were βIVS-Ⅱ-654/βN, βCD41-42/βN. Four cases of α complex β thalassemia were detected. Totally 26 high-risk couples with homologous thalassemia gene were detected, including 18 pairs of homologous α-thalassemia, eight pairs of homologous β-thalassemia. Among them, women in six couples received prenatal diagnosis, prenatal diagnosis results show that the normal fetus in two cases, --SEA/αα one case, βIVS-Ⅱ-654/βN two cases, --SEA/--SEA one case, including one pregnant woman of severe poverty choose termination. Conclusion The pilot project of prevention and control of poverty in Putian City of Fujian Province can effectively reduce the birth of severe thalassemia neonates, improve the quality of the born population in this area, and provide a basis for further development of thalassemia prevention and control plan. [ABSTRACT FROM AUTHOR]

Objective To investigate the gene carrying rate, mutation spectrum and frequency of thalassemia in the childbearing age population of Dai nationality in Yingjiang County, Dehong Prefecture, Yunnan Province, China and to provide a theoretical basis for strategy maiming for the prevention and control of thassemia birth defects. Methods Totally 400 cases of childbearing age population of Dai nationality in Yingjiang County were subjected to routine blood testing, capillary electrophoresis, and next generation sequencing. Results Among the 400 cases 219(54.75%) thalassemia gene carriers were found. There were 133(33.25%) carriers having α-thalassaemia gene. The most common genotype was -α3.7, followed by--SEA and -α4.2. There were 47(11.75%) carriers of β-thalassemia gene, and the mutation type CD26 (G＞A) was the most common type. There were 39(9.75%, 39/400) carriers of composite α and β thalassemia. According to comparative analysis of the hematological characteristics of various α-thalassemias, mean corpsular hemoglobin(MCH) of --SEA and Hb A2 of αCSα were relatively low. According to comparative analysis of the hematological characteristics of β-thalassemia, mean corpusular volume(MCV) of CD17 (A＞T) was relatively low. Conclusions The carrying rate of thalassaemia in Yingjiang County is 54.75%, indicating it is a high incidence area of thalassaemia. The most common types are -α3.7 and CD26 (G＞A). The results reported here may provide evidence for genetic counseling in areas with high incidence of thalassaemia.

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Pregnancy with thalassemia is a single-genome inherited hemolytic disease occurring during pregnancy. Due to the imbalance in the composition of hemoglobin in the blood, the blood system of pregnant patients has changed, which may affect the maternal heart function, increase the risk of thrombosis, damage the immune system, and disrupt endocrine system. Previous studies have focused on the epidemiology and pathogenesis of pregnancy -associated thalassemia, but lacked systematic elaboration on pregnancy management, genetic counseling and prenatal diagnosis of complications. This study started from the types of lesions and pathogenesis, and deeply analyzes the unique complications of thalassemia during pregnancy and the corresponding treatment methods, in order to achieve better pregnancy outcomes and perinatal outcomes. [ABSTRACT FROM AUTHOR]

Objective To investigate the genotypes and distribution characteristics of thalassemia in Chongqing. Methods A total of 108 140 peripheral blood samples were harvested from 36 districts and counties in Chongqing during January 2018 and November 2019. Single-tube multiplex polymerase chain reaction (PCR) and reverse spot-strip hybridization (RDB) were employed to detect 3 common α-thalassemia genotypes and 17 common β-thalassemia point mutations. The results were analyzed statistically. Results A total of 9 988 (9.24%) thalassemia carriers were identified, and among them, 5 448 were carriers of α-thalassemia gene mutation, with a detection rate of 5.04% (5 448/108 140), with --SEA/αα deletion genotype most common (accounting for 45.71% of α-thalassemia). Detection of 13 genotypes of β-thalassemia detected 4 368 patients with β-thalassemia gene mutations, with a detection rate of 4.04% (4 368/108 140), and 4 359 patients of them (99.8%) were heterozygous, mainly CD41-42 (-CTTT), CD17 (AAG>TAG) and IVS2-654(C>T). One homozygous case was firstly reported in Chongqing, and the left 8 cases (0.18%) were double heterozygous. Two types of double heterozygous mutations, CAP (A-C)/IVS2-654 (C>T) and CD17 (AAG>TAG)/βE (GAG>AAG) were not reported in China. For the 172 patients who were confirmed as composite α- and β-thalassemia carriers, the detection rate was 0.16%, and the most common genotype was -α3.7/αα with CD41-42(-CTTT). The incidence of composite α- and β-thalassemia in this study was at the middle level in China. There were totally 4 triple heterozygous mutants among the composite thalassemia, and triple heterozygous mutations of (-α4.2/αα, βE(GAG>AAG), IVS2-654(C>T), -α3.7/αα, -α4.2/αα, -29(A-G) and -α3.7/αα, -α4.2/αα, CD17(AAG>TAG)) were not reported yet in our country. Conclusion Regional characteristics is found in the gene mutation composition ratio of thalassemia in Chongqing region. The incidences of α-thalassaemia and β-thalassaemia are lower than those of Guangdong and Guangxi regions, and the incidence of composite α- and β-thalassemia is in the middle level of our country. Five mutant genotypes are identified for the first time in China.

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective To investigate the positive rate, gene mutation type and distribution characteristics of thalassemia gene screening patients in the First Affiliated Hospital of Kunming Medical University. Methods A retrospective analysis was made on 2 376 cases of thalassemia gene screening patients in the First Affiliated Hospital of Kunming Medical University from April 1, 2017 to December 31, 2018. The parameters of thalassemia gene and blood cell analysis (Hb，MCV，MCH，RDW) were statistically analyzed. Results (1) Among 2 376 cases of thalassemia gene screening，817 were positive for thalassemia gene，the positive rate was 34.39%，of which 392 cases were positive for α thalassemia gene，accounting for 47.98% of the total positive samples；398 were positive samples of βthalassemia gene，accounting for 48.71% of the total positive samples；27 cases were αβcompound thalassemia gene positive samples，accounting for 3.30% of the total positive samples. (2) 392 positive samples of αthalassemia gene were αα/--SEA、αα/-α3.7、αα/ααCS、αα/-α4.2 and -α3.7/--SEA genotypes， accounting for 50.51%，32.91%，4.34%，3.57% and 2.55%，respectively；CD26，CD41-42，CD17，IVS II654，nt28 genotypes were the main positive samples of β thalassemia gene，accounting for 25.38%，23.37%， 20.60%，20.60% and 3.27% of thalassemia gene. Conclusion The incidence rate of thalassemia in Yunnan is still high，of which CD26 is the largest in beta thalassemia，which is totally different from that in other provinces and cities in China. [ABSTRACT FROM AUTHOR]

We reported a case of hypoxia-inducible factor prolyl hydroxylase inhibitor（HIF-PHI）in the treatment of thalassemia combined with renal anemia. The patient was an elderly female with β - thalassemia，heterozygous for the mutant gene CD41-42，and progressed to uremia due to hypertension and diabetes. After treatment with erythropoietin，the patient's renal anemia could not be corrected，and she relied on blood transfusion for a long time. HIF-PHI Roxadustat is effective in treating this patient. [ABSTRACT FROM AUTHOR]

Objective: To analyze the genotype distribution and hematological characteristics of children with thalassemia in Chongqing., Methods: A total of 207 children with thalassemia admitted to Chongqing University Three Gorges Hospital from January 2021 to October 2022 were selected as the research objects. The genotype distribution and hematological characteristics were retrospectively analyzed., Results: 207 cases of thalassemia were confirmed from 482 samples by gene detection, the detection rate was 42.95%, α-thalassemia accounted for 17.63%(85/482), β-thalassemia accounted for 24.27%(117/482), and compound αβ thalassemia accounted for 1.04%(5/482). A total of 5 gene mutation types of α-thalassaemia were detected in this study, which constituted 6 genotypes, αα/-SEA was the most common one, followed by αα/-α 3.7 . A total of 8 gene mutation types of β-thalassemia were detected, which constituted 9 genotypes, the top three were CD17/N, CD654/N and CD41-42/N . The highest detection rate was found in the patients aged 0-3 years (57%), and the degree of anemia was mainly mild (88.41%). 97.58% of the patients were MCV< 80 fl, 98.55% were MCH< 28 pg, 60.87% were MCHC< 320 g/L, and 71.50% were RDW-SD < 37%. The MCV and MCH of β-thalassemia group were lower than that of α-thalassemia group, and the MCHC was higher than that of α-thalassemia group ( P <0.05), but RDW-SD was not significantly different between the two groups ( P >0.05). There were no significant differences in MCV, MCH, MCHC and RDW-SD between β + /β N and β 0 /β N groups ( P >0.05). The MCV and RDW-SD of --/αα thalassemia group were lower than that in -α/αα thalassemia group, the differences were statistically significant ( P < 0.05), but MCH and MCHC were not significantly different between the two groups ( P >0.05)., Conclusion: The genotypes of children with thalassemia in Chongqing are diverse and heterogeneous, and the majority of them are mild anemia. There are differences in haematological indexes among different genotypes of thalassemia.

Objective To analyze the gene mutation types of thalassemia gene mutations and relative hematological characteristics in premarital population in Menghai area of Xishuangbanna. Methods All 3198 subjects were screened for thalassemia by routine blood test. For positive screening subjects，GAP-PCR and PCR-RDB were used to identify commonαandβthalassemia. Results Among the patients screened，148 subjects were detected as thalassaemia patients，and the detection rate was 4.63%（148/3198）. Most thalassemia carreier were identified in Dai（7.66%，132/1723）and Han（1.59%，10/627）. A total of nineα-thalassaemia genotypes were detected. The most common genotypes ofαthalassemia were --SEA（57.39%，66/115）and -α3.7（29.57%，34/115）. A total of sevenβ-thalassaemia genotypes were detected. The most common genotypes of β-thalassemia were CD26（G>A） （40.00%，22/55），CD17（A>T） （30.91%，17/55）and CD41-42（-TTCT） （20.00%，11/55）. Six cases ofα-thalassemia combined withβ-thalassemia were detected. Forα-thalassemia，--SEA showed comparatively low values for haematological indices. Forβ-thalassemia，CD17（A>T）showed comparatively low values for haematological indices. --SEA showed comparatively lower values for MCH than -α3.7，-α4.2 andαCSα，CD17（A>T）is relatively comparatively lower values for MCV and MCH than CD26（G>A），all have significant statistical differences（P< 0.05）. Conclusions Our data underline the heterogeneity ofα-globin andβ-globin gene mutations in Menghai county of Xishuangbanna. Thalassemia is more prevalent among the Dai and Han ethnic groups. Our study will lay a foundation for screening programmes and clinical management of thalassaemia in Yunnan province. [ABSTRACT FROM AUTHOR]

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Copyright of China Tropical Medicine is the property of China Tropical Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Modern Laboratory Medicine is the property of Journal of Modern Laboratory Medicine Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To investigate the gene mutation and genotype distribution of thalassemia in the population of childbearing age in Chongzuo area of Guangxi., Methods: Six α-thalassemia and 17 β-thalassemia gene mutations common in Chinese were detected by gap-polymerase chain reaction (gap-PCR) combined with agarose gel eletrophoresis and reserve dot bolt hybridization in 29 266 cases of child-bearing age suspected of thalassemia., Results: A total of 19 128 (65.36%) cases were identified with thalassemia. The detection rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia was 45.25% (13 242/29 266), 15.47% (4 526/29 266) and 4.65% (1 360/29 266), respectively. A total carrying rate of 8 kinds of α-thalassemia gene mutations was 26.74% (15 649/58 532), including 12.51% for -- SEA , followed by 5.70% for -α 3.7 , and 0.24% for -- Thai . Among 32 α-thalassemia genotypes, the most common five were -- SEA /αα, -α 3.7 /αα, α CS α/αα, -α 4.2 /αα and α WS α/αα, accounting for 47.27%, 18.31%, 8.56%, 8.52% and 7.91%, respectively, as well as 0.97% for -- Thai /αα. A total carrying rate of 13 kinds of β-thalassemia gene mutations was 10.07% (5 897/58 532), including 3.63% for CD41-42 , followed by 2.55% for CD17 , and 0.003% for -50 (G>A). Among 17 β-thalassemia genotypes, the most common six were CD41-42/N , CD17/N, CD71-72/N, CD26/N, 28/N and IVSI-1/N , accounting for 36.15%, 25.81%, 9.43%, 8.18%, 8.09% and 7.75%. The homozygous genotype CD26/CD26 [hemoglobin (Hb): 121 g/L] and -28/-28 (Hb: 56 g/L) were respectively detected in one case, and double heterozygous genotype were detected in 5 cases, including 3 cases of CD41-42 /CD26 (Hb: 41 g/L, 51 g/L, 63 g/L, respectively), 1 case of -28/IVSI-1 (Hb: 89 g/L), in which patients with moderate or severe anemia had a history of blood transfusion. Among 104 α-combining β-thalassemia genotypes, the most common were -- CD71-72/CD26 (Hb: 89 g/L), in which patients with moderate or severe anemia had a history of blood transfusion. Among 104 α-combining β-thalassemia genotypes, the most common were -- SEA /αα, -α 3.7 /αα combining CD41-42/N and -- SEA /αα combining CD17/N , accounting for 12.13%, 9.63% and 9.26%, respectively. In addition, 1 case of -- SEA /-α 3.7 combining -28/IVSI-1 (Hb: 83 g/L) and 1 case of -α 3.7 /αα combining CD41-42 / CD41-42 (Hb: 110 g/L) were detected without history of blood transfusion, while 1 case of α WS α/αα combining CD41-42 /CD17 (Hb: 79 g/L) and 1 case of -- SEA /αα combining CD17/-28 (Hb: 46 g/L) were detected with history., Conclusions: The detection rate of thalassemia genes is high and the mutations are diverse in the population of childbearing age in Chongzuo area of Guangxi. The common deletion genotype is -- SEA /αα in α-thalassemia and CD41-42/N in β-thalassemia, and deletion genotype -- Thai is not rare. There is a certain incidence of intermediate and severe β-thalassemia, and most patients require transfusion therapy. The results are beneficial for genetic consultation and intervention of thalassemia.

Objective: To investigate the detection rate and hematologic phenotype of HKαα thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region., Methods: Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed., Results: A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.521%), and 40 HKαα mutations were detected, detection rate was 0.022%, including 5 cases in Nanning, 22 cases in Qinzhou, 2 cases in Fangchenggang, 11 cases in Beihai. A total of 29 ethnic groups were included in the survey, but HKαα gene was observed only in Han nationality (0.0380%) and Zhuang nationality (0.0068%). A total of 8 genotypes carrying HKαα mutations were detected in this study ( HKαα /-- SEA , β N / β N , HKαα /αα, β -28 / β N , HKαα /αα, β -50 / β N , HKαα /αα, β CD17 / β N , HKαα /αα, β CD27/28 / β N , HKαα /αα, β CD41-42 / β N , HKαα /αα, β CD71-72 / β N , and HKαα /αα, β N / β N ). Except for most cases with HKαα /αα, β N / β N genotypes with no significant changes in the hematological indexes, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of other genotypes were decreased, showing microcytic hypochromic performance, mild anemia or no anemia., Conclusion: HKαα carrier is often misdiagnosed as -α 3.7 carrier, which easily leads to missed diagnosis or misdiagnosis. Therefore, it is necessary to continuously improve the diagnostic level of laboratory testing personnels and genetic counselors to avoid unnecessary interventional puncture operations and birth of children with moderate and severe thalassemia.

Objective To explore the genotype and hematological characteristics of thalassemia in Neijiang area. Methods From January 2016 to November 2018, 226 patients were selected from the obstetric clinic of the hospital for prenatal health examination. The patients were divided into α-thalassemia group (72 cases), β-thalassemia group (72 cases) and control group (82 cases). The changes of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell volume distribution width (RDW) coefficient of variation (CV) were compared among the three groups, and the genotype composition of the α-thalassemia group and the β-thalassemia group was analyzed. Results The levels of MCV, MCH and MCHC in the α-thalassemia group and the β-thalassemia group were significantly lower than those in the control group, while the levels of RDW-CV in the β-thalassemia group were significantly higher than those in the control group. In the α-thalassemia group, the most common type of gene deletion was --SEA (73.6%). In the β-thalassemia group, the first three gene mutation types were CD41/42(31.9%), IVS-II-654 (30.6%), CD17(20.8%). Conclusion In Neijiang area, --SEA and CD41/42 are the main mutations of thalassemia gene. The detection of red blood cell related indexes in thalassemia patients can provide certain basis for prenatal diagnosis. [ABSTRACT FROM AUTHOR]

BACKGROUND: Methods of blood transfusions and regular iron removal have been gradually introduced in thalassemia patients since the 1980s. However, this method is limited by the need of a large amount of social resources to be widely used. With the continuous progress of stem cell research in recent years, there is a new hope of using stem cell technology to treat thalassemia. OBJECTIVE: To review the therapeutic effect of stem cell therapy on thalassemia. METHODS: The first author searched relevant articles with PubMed database and CNKI (from 1989 to 2017) using the key words of “thalassemia, hematopoietic cell transplantation, therapy, stem cell” in English and “thalassemia, stem cell therapy, transplantation” in Chinese, respectively. After initial screening, 51 articles were retained. RESULTS AND CONCLUSION: Prior to the use of stem cells to treat patients with thalassemia, a reasonable drug conditioning program and a proper donor source can increase the survival rate, and reduce the incidence of rejection and graft-versus-host disease after transplantation. At the same time, the age of recipients and the level of risk assessment are important reference factors in the transplantation process, which directly affect the effect of stem cell transplantation. In addition, choosing the appropriate type of stem cells, improving the transplantation method, and optimizing drug conditioning can reduce complications and risks of transplantation, and improve the quality of life of thalassemia patients. [ABSTRACT FROM AUTHOR]

Objective: To investigate the possible causes of abnormal hemoglobin electrophoresis results., Methods: The hemoglobin electrophoresis results of 5 696 patients in the First Affiliated Hospital of Chengdu Medical College from September 2018 to July 2021 were collected, and the abnormal results and clinical significance were analyzed., Results: The results of 486 patients (accounting for 8.53%) were abnormal, of which 300 cases had increased HbA2, 135 cases had decreased HbA2, 44 cases had increased F alone, and 7 cases had abnormal hemoglobin bands. Among the 486 patients, 246 patients were thalassemia gene positive (the positive rate was 50.62%), including 29 cases of α thalassemia, 208 cases of β thalassemia and 9 cases of αβ thalassemia. Among the patients with elevated HbA2, 68.67% were detected β thalassemia, 3.00% αβ thalassemia, 9.33% were suspected to be caused by macrocytosis, 6.33% by thyroid dysfunction, and 12.67% by uncertainty of the method. Among the patients with reduced HbA2, 21.48% were detected α thalassemia, 60.00% iron deficiency anemia, 8.15% were suspected to be caused by thyroid dysfunction, and 10.37% by uncertainty of the method. Among the patients with elevated F alone, the results of thalassemia gene detection were negative, 40.91% of them were suspected to be caused by macrocytosis, 27.27% by hereditary persistence of fetal hemoglobin, 29.55% by special physiological condition of pregnant women, and 2.27% by hyperthyroidism. Abnormal hemoglobin bands were detected in 7 patients, including 4 cases of hemoglobin D, 2 cases of hemoglobin E, and 1 case of hemoglobin J., Conclusion: Thalassemia, iron deficiency anemia, macrocytosis such as megaloblastic anemia and non-severe aplastic anemia, thyroid dysfunction, hereditary persistence of fetal hemoglobin, abnormal hemoglobin diseases, the uncertainty of the method are all important causes of abnormal hemoglobin electrophoresis results. In clinical work, the patient's indicators should be comprehensively analyzed to determine the possible cause.

Objective: To explore the carrier rate, genotype and phenotype of α-thalassemia fusion gene in Huadu district of Guangzhou, Guangdong province of China, and provide data reference for the prevention and control of thalassemia., Methods: A total of 10 769 samples who were screened for thalassemia in Maternal and Child Health Hospital of Huadu District from July 2019 to November 2020 were analyzed retrospectively. Blood cell analysis and hemoglobin (Hb) electrophoresis were performed. Thalassemia genes were analyzed by gap-PCR and PCR-reverse dot blot hybridization (PCR-RDB)., Results: A total of 9 cases with α-thalassemia fusion gene were detected in 10 769 samples (0.08%). There were 7 cases with fusion gene heterozygote, 1 case with compound of α-thalassemia fusion gene and Hb G-Honolulu, 1 case with compound of α-thalassemia fusion gene and Hb QS. The MCV results of 4 samples of blood cell analysis were within the reference range, the Hb A2 value of 1 case was decreased, and there were no other abnormalities found., Conclusion: The α-thalassemia fusion gene is common in Huadu district of Guangzhou, and heterozygotes are more common, and current screening methods easily lead to misdiagnosis.

Objective To investigate the genetic heterogeneity of thalassemia in the populations of Yunnan province. Methods From July 2009 to Octorber 2012, mutations of the α- or β-hemoglobin genes were tested in suspected thalassemia cases to investigate the spectrums of gene mutations. And the distribution of mutations in different region and minority were analysed. Results Four types of α-thalassemia mutations, --SEA （62.82%）, -α3.7 （19.66%）, αCS （12.39%）, and -α4.2 （5.13%） were identified. Seven common mutations were responsible for the β-thalassemia alleles, CD26 （32.00%）, CD17 （22.18%）, CD41-42 （18.91%）, IVS-Ⅱ -654 （16.18%）, -28 （5.09%）, CD71-72 （2.00%）, and CD27-28 （0.91%）. For β-thalassemia, CD41-42 was the most frequent mutation in southeast Yunnan and βE was the most frequent mutation in southwest Yunnan. Conclusions The most frequent mutation is βE for β-thalassemia, which is different from other regions in China. Similar to the results obtained in other regions in China previously reported, SEA mutation is the most frequent for α-thalassemia. Our data provide valuable information on the control of thalassemia in the population with ethnic and geographical background in Yunnan Province. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Modern Laboratory Medicine is the property of Journal of Modern Laboratory Medicine Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To analyze hematology, genotype, phenotype and ethnic distribution of Thai type deletions thalassemia in Guangxi region. Methods: The outpatient's blood, hemoglobin and -thalassemia genotype was detected and these data were collected and analyzed. Results: 104 cases of Thai type deletions thalassemia were detected, including 71 cases of --Thai/αα, 17 cases of -THAI/-α3.7, 14 cases of --THAI/αCSα, 2 cases of --THAI/αQSα; statistically significant difference were not fund between --THAI/ααand --SEA/ααin blood test, P>0.05, statistically significant difference were found between Thai type deletions Hb H disease (--THAI/-α3.7,--THAI/αCSα, --THAI/αQSα) and Southeast Asia deletions type Hb H disease (--SEA/-α3.7, --SEA/αCSα), P<0.01. The ethnic distribution were found in 67 cases of Zhuang, 34 cases of Han, three cases of other ethnics. Conclusions: Thai type deletions thalassemia has a certain incidence in Guangxi, most of Zhuang people. Compared to Southeast deletions Hb H disease, Thai type deletions Hb H disease (--Thai/αCSα) showed an earlier, severe symptoms of anemia. [ABSTRACT FROM AUTHOR]

Objective: To investigate gene mutation types of thalassemia in the population of this area and the relationship between hematological phenotype and age in β-thalassemia., Methods: 1 351 suspected cases of thalassemia were detected in the First Affiliated Hospital of Chengdu Medical College from June 2017 to June 2021. PCR-reverse dot blot hybridization(PCR-RDB) technique was used to detect the common α and β thalassemia gene types, then the data of MCV, MCH, MCHC and Hb of confirmed cases were collected. The heterozygotes of β-thalassemia were divided into 0-18 year group, 19-50 year group and >50 year group according to age, and the differences of hematological phenotypes among different groups were compared., Results: Among the detected 1 351 samples， 523(38.71%) cases were diagnosed as thalassemia, 13 genotypes were detected in 260 cases (19.25%) with α-thalassemia; and 12 genotypes were detected in 252 cases (18.65%) with β-thalassemia; 9 genotypes were detected in 11 cases with αβ thalassemia. It was found that MCV and MCH were increased significantly in 0-18 year group, 19-50 year group and >50 year group, MCHC was highest in 0-18 year group, and Hb was the lowest in the >50 year group, and the difference was statistically significant（P<0.05）., Conclusion: In this area, -- SEA /αα was the major genotype of α-thalassemia, and CD41-42 /N and IVS-II-654/N were the major genotypes of β-thalassemia. Morever, MCV and MCH were the lowest in the 0-18 year old group and the highest in the >50 years old group in heterozygotes of β-thalassemia. The influence of age on hematological parameters in the primary screening of thalassemia provides a certain reference value in clinical diagnosis and treatment.

Objective: To retrospectively analyze the efficacy and safety of ruxolitinib therapy for children with thalassemia after unrelated or haploidentical stem cell transplantation., Methods: From March 2020 to March 2021, 22 patients received successfully allogeneic hematopoietic stem cell transplantation in the Zhongshan Hospital of Xiamen University, from +30 to 100 days,those patients received ruxolitinib therapy (2.5 mg, twice daily) and all adverse reactions were observed, include aGVHD, cGVHD, CMV and EBV infection., Results: 22 patients underwent allogeneic stem cell transplantation, 5 patients were diagnosed as aGVHD, 3 patients had grade I－II skin GVHD and 2 patients had grade II intestinal GVHD, those patients were cured. All patients were followed up for more than 21 weeks, 4 cases developed cGVHD, including 3 cases of localized liver GVHD and 1 case of pulmonary GVHD, those were relieved after active treatment. 8 patients had elevated EBV copies (>3×10 3 /ml), and 3 patients had increased CMV copies, the patients recovered after immunosuppressant and antiviral treatment. There was no CMV infection and EBV related post-transplantant lymphoproliferative disorders(PTLD), and no transplant related deaths., Conclusion: Ruxolitinib can effectively reduce the incidence and severity of GVHD without affecting the hematopoietic recovery, and improve the survival status of thalassemia children after transplantation.

Thalassemiases are a group of the most common monogenic diseases in southern provinces of China. It is first choice method to prevent the birth of the affected children by prenatal genetic diagnosis in those high-risk couples through invasive sampling, which is widely accepted in the world. The risk of fetal injury, miscarriage or intrauterine infection may be caused by the invasive operation to collect villus, amniotic fluid, or cord blood for prenatal diagnosis. Since the cell-free fetal DNA (cff-DNA) was discovered in maternal plasma, the cff-DNA-based non-invasive prenatal diagnosis (NIPD) technology has been rapidly developed. The cff -DNA -based NIPD is safer and easily acceptable. In this review, noninvasive approaches in prenatal diagnosis of thalassemias were briefly discussed. [ABSTRACT FROM AUTHOR]

Objective: To analyze the clinical efficacy of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) by using parental donors on thalassemia patients., Methods: The 13 thalassemia patients treated by haplo-HSCT using parental donors in our hospital from July 1, 2016, to July 1, 2020 were retrospectively reviewed. Hematopoiesis reconstitution, the incidence of GVHD, infections and the long-term survival of the patients were analyzed., Results: Twelve of the 13 patients were successfully implanted, the success rate of implantation was 92.3%. The median time of neutrophil and platelet engraftment was 12.5 days (range, 9-22 days) and 21 days (range,12-34 days), respectively. One patient achieved primary graft failure. Three (25%) patients developed to acute GVHD (aGVHD) and achieved complete remission after treatment. Chronic GVHD developed in three (25%) patients, one of them was extensive and under treatment, while one patient developed to severe bacterial infection (7.7%). CMV viremia was diagnosed in two patients (15.4%). There were no patients developed to CMV disease. Three (23.1%) patients achieved EB viremia after transplantation, one of them developed to EBV-related lymphocytic proliferative disease, while there were no patients showed invasive fungal infection. At the last follow-up, all patients survived, twelve of them were free from transfusion dependency. There were no transplant-related deaths. Projected overall and thalassemia-free survival at three years was 100% and 92.3%, respectively., Conclusion: The transplant protocol of haplo-HSCT by using parental donors in patients with thalassemia has reliable source of donors, high incidence of successful implantation and low incidence of GVHD, which can be used as an effective way to increase the source of donors in children with thalassemia.

Objective: To investigate the difference of therapeutic effects on children with thalassemia at different age after hematopoietic stem cell transplantation., Methods: The clinical data of children with thalassemia treated in our hospital were retrospectively analyzed. The children were divided into 2-5 years old group and 6-12 years old group. The success rate of implantation, transplant-related mortality, GVHD incidence, and other transplant-related complications, as well as thalassemia-free survival (TFS) were compared between the two groups., Results: The incidence of GVHD, hemorrhagic cystitis and severe oral mucositis after transplantation in the 2-5 years old group were significantly lower than those in the 6-12 years old group, while there was no statistically significant difference in the TFS between the two groups., Conclusion: Children in the low age (2-5 years old) group show fewer complications and higher quality of life after transplantation, therefore, stem cell transplantation at 2-5 years old is more conducive to rehabilitation of the children with thalassemia.

Objective: To identify one case of rare Hb Lepore-BW associated with IVS-II-654 heterozygous mutation in Sichuan area., Methods: The blood routine examination and hemoglobin electrophoresis methods were used to analyze the blood routine parameters, HbA 2 and HbF in the samples of peripheral blood in proband and his parents, as well as the cord blood of pregnant woman. The detection of thalassemia gene and Sanger sequencing methods were used to detect the hemoglobin mutations., Results: The result showed that the Hb Lepore-BW heterozygous mutation was detected in the father of the proband, while a rare Hb Lepore-BW with IVS-II-654 heterozygous mutation was detected in the proband, as well as his mother and cord blood were both detected as IVS-II-654 heterozygous mutation., Conclusion: The study identified a rare Hb Lepore-BW with IVS-II-654 heterozygous mutation, which was characterized by intermediate β-thalassemia. It is necessary to hemoglobin electrophoresis combined with routine blood testing in prenatal screening.

Objective: To analyze the genotype characteristics of α- and β-thalassemia and the diagnostic value of hematological indexes in pregnant women in Xindu District of Chengdu., Methods: The blood routine parameters(MCV) <80 fl and (or) (MCH) <27 pg and hemoglobin electrophoresis were used to screen the pregnant women, PCR-reverse dot blot hybridization(PCR-RDB) technique was used to detect the common α- and β-thalassemia gene types in the primary screening positive population. The husbands of the diagnosed pregnant women were recalled for gene testing, and the highly suspected patients were checked by gene sequencing., Results: Among the 7 049 pregnant women, 1 740(24.68%) cases were positive for primary screening. 180 patients were diagnosed as thalassemia gene positive, among them, 94 cases (52.22%) of α-thalassemia were detected and six genotypes were found, in which -- SEA /αα genotype was the highest (58 cases, 61.70%); 82 cases (45.56%) of β-thalassemia were detected and ten genotypes were found while CD41-42/N and CD17/N genotypes were the most common; there were 4 cases(2.22%) with α combined with β-thalassemia. Through clinical follow-up survey, there were 4 couples with the same type of thalassemia, one of them was induced labor after diagnosis of hemoglobin H disease. Receiver operating curve (ROC curve) was used to analyze the diagnostic value of hematological parameters in thalassemia positive pregnant women. The results showed that AUC(HBA 2 )SEA /αα, CD41-42/N, CD17/N. The blood routine indicators (HBA 2 、RDW-SD、MCHC、MCH、MCV) have high diagnostic value for screening of thalassemia.

Objective: To study the distribution characteristics of thalassemia genotype in Han Population in Sanya of Hainan Province., Methods: Gap PCR and reverse dot hybridization were used to detect and analyze the thalassemia gene in 572 suspected thalassemia carriers of Han Population in Sanya., Results: Among the 572 Han Population in Sanya, 271 cases of thalassemia gene abnormality were detected, among which 161 cases were founded to be carriers of α-thalassemia gene. A total of 9 genotypes were detected, in the following order of the detection rate was －－ SEA /αα，－α 3.7 /αα，－α 4.2 /αα，－－ SEA /－α 3.7 ，－－ SEA /－α 4.2 ，－α 4.2 /－α 4.2 ，－α 3.7 /－α 4.2 ，－α 3.7 /－α 3.7 ，－－ SEA /－－ SEA . Among them, the deletion type (－－ SEA /αα) in southeast Asia was the most common, accounting for 66 cases. 99 cases of β-thalassemia were detected, there were 7 genotypes, all of which were heterozygous. The order of the detection rate was CD41-42/βN, IVS-II-654/βN, CD17/βN, CD71-72/βN, -28/βN, －29/βN, CD27-28/βN. Among them, CD41-42/βN was the most common, accounting for 51 cases. In addition, 11 cases of combined α and β thalassemia were detected. Five kinds of genotypes were checked out, the order of detection rate was －α 3.7 /αα composite CD41-42/βN, －－ SEA /αα composite IVS-II-654/βN, －α 4.2 /－α 4.2 composite CD41-42/βN, －α 4.2 /αα composite －29/βN , －－ SEA / －α 4.2 composite CD41-42/βN., Conclusion: Han Population in Sanya of Hainan Province is a high-risk population of thalassemia, the genotype characteristics are different from other areas with high incidence of thalassemia in China. The main type of α-thalassemia is the deficiency mutation of southeast Asia, while CD41-42 heterozygous mutation is the main type of β-thalassemia.

Objective: To explore the genotypes and prenatal diagnosis of thalassemia in couples of childbearing age in Quanzhou, Fujian Province., Methods: Blood routine and hemoglobin electrophoresis were performed for initial thalassemia screening in 76 328 couples in Quanzhou region from July 2017 to July 2020. The couples with positive initial screening results further underwent thalassemia gene test. Couples carrying homotypic thalassemia genes underwent prenatal diagnosis in the second trimester., Results: Among 76 328 couples of childbearing age, 1 809 couples of positive initial thalassemia screening were identified, with the positive rate about 2.37%. Further results of genetic detection of the 1 809 couples showed that 985 cases were diagnosed as α- thalassemia, of which -- sea /αα was the most frequency, followed by -α 3.7 /αα and αα QS /αα; 296 cases were diagnosed as β-thalassemia, the most frequency mutations were 654M/N and 41-42M/N; 26 cases of compound α and β-thalassemia were detected. In addition, 3 rare cases of thalassemia were detected, including -- THAI /αα, SEA-HPFH, and -α 6.9 /-- sea . Among them, 108 couples were confirmed as homologous thalassemia, with the detection rate about 5.97%, including 96 couples of homologous α-thalassemia, 9 couples of homologous β-thalassemia, and 3 couples with one had compound α- and β-thalassemia. Among them, 17 couples with homologous α-thalassemia underwent prenatal diagnosis in the second trimester, of which 1 case of Hb Bart's Hydrops Syndrome, 3 cases of HbH disease, 9 cases of silent thalassemia or α-thalassemia minor, and 4 cases of healthy fetuses were detected. Fetal chromosome karyotype analysis showed that 16 cases were normal and 1 case diagnosed as Down syndrome., Conclusion: Thalassemia screening in pre-marital and pre-pregnancy, and prenatal diagnosis can effectively reduce the birth of children with thalassemia intermediate and thalassemia major. It is necessary to perform chromosome karyotype analysis at the same time as prenatal diagnosis of thalassemia gene in order to avoid fetus with abnormal chromosome.

Objective: To investigate the hematological characteristics and genotype distribution of thalassemia among people at reproductive age in Chongqing., Methods: Hematology analysis and capillary electrophoresis were performed in 29 145 participants at reproductive age. The patients with positive results were confirmed by thalassemia genotyping. Genotype distribution and characteristics of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hba 2 levels in thalassemia patients were analyzed., Results: -- SEA /αα (45.10%), -α 3.7 /αα (39.31%) and -α 4.2 /αα (8.46%) were the most common genotypes of α-thalassemia, while CD17 (HBB: c. 52A>T) (31.67%), CD41-42 (HBB: c. 126-129 del TTCT) (26.87%) and IVS-Ⅱ-654 (HBB: c. 316-197 C>T) (24.21%) were the most common genotypes of β-thalassemia in Chongqing. In α-thalassemia αα CS /αα showed the lowest hba 2 value (2.18±0.23)%, while -- SEA /αα showed the lowest MCV (71.9±8.5) fl and MCH (22.7±3.3) pg value. The patients in βE (HBB: c. 79G>A) group showed comparatively higher values of MCV and MCH and significantly lower HbA and hba 2 values than the other genotypes. There was no significant difference in HbA, hba 2 , MCV, MCH levels of the patients between pregnant group and non-pregnant group., Conclusions: In Chongqing, there are differences in hematological characteristics among patients with different thalassemia genotypes. There is no significant effect of pregnancy on HbA, hba 2 , MCV and MCH has been found.

Objective: To investigate the regulatory effect of targeted siRNA on β-globin in erythroid cells cultured by targeted differentiation in vitro and provide new theoretical support for gene therapy for hemoglobin H (HbH) disease. Methods: Based on the β-globin gene expression results, the optimal siRNA sequence and its effective action dose were screened in erythroid cells, and the effect of the effective dose of the optimal siRNA on the regulation of β-globin expression and apoptosis in erythroid cells was examined. The effective dose of the optimal siRNA was applied to erythroid cells with HbH disease. The effects of transfected siRNAs on red line cells with HbH disease were comprehensively evaluated by measuring the expression of β-globin, reactive oxygen species (ROS) , and apoptosis rates. Results: Within 96 hours after transfection, siRNA2 significantly downregulated β-globin expression in in vitro cultured erythroid cells, but not α-globin. siRNA silencing effect and duration of effect were dose-dependent. siRNA2 downregulated β-globin expression, reduced intracellular ROS production, and decreased apoptosis rate in erythroid cells with HbH disease. Conclusion: Targeted siRNAs can downregulate β-globin expression, reduce intracellular ROS production, and downregulate apoptosis rate in erythroid cells with HbH disease.

Objectives: To investigate the distribution of genotypes of thalassemia in children in Guangxi, China., Methods: A total of 30 417 children with positive results of thalassemia screening in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2019 were enrolled. Single-tube multiplex PCR, agarose gel electrophoresis, and reverse dot blot hybridization technique were used for the detection of common α- and β-thalassemia genes. Gap-PCR or gene sequence analysis was performed for 2 703 children suspected of rare thalassemia., Results: Among the 30 417 children with positive results of thalassemia screening, 23 214 (76.32%) were diagnosed with thalassemia, and the detection rates of α-thalassemia, β-thalassemia, and α-thalassemia with β-thalassemia were 47.77%, 23.75%, and 4.80% respectively. A total of 13 types of α-thalassemia alleles (18 480 alleles in total) were detected, mainly -- SEA (54.98%), including seven rare alleles, i.e., -- THAI (0.43%), HKαα (0.02%), -α 30 (0.01%), -α 1.0 (0.01%), -α 2.4 (0.01%), -α 21.9 (0.01%), and HBA 2 :C272-279 del (0.01%). A total of 17 types of β-thalassemia alleles (9 168 alleles in total) were detected, mainly CD41-42 (47.79%), followed by CD17 (25.53%), including three rare alleles, i.e., IVS-II-5 (0.02%), IVS-I-2 (0.01%), and G γ( A γδβ) 0 (0.01%). A total of 37 genotypes were detected in 14 531 children with α-thalassemia, among which the most common 6 genotypes were -- SEA /αα (52.20%), -α 3.7 /αα (13.24%), α CS α/αα (7.52%), -α 4.2 (6.06%), -- SEA /-α 3.7 (5.91%), and α WS α/αα (3.41%), accounting for 88.34%. A total of 49 genotypes were detected in 7 223 children with β-thalassemia, among which the most common 6 genotypes were CD41-42/β N (45.81%), CD17/β N (24.30%), IVS-II-654/β N (7.49%), -28/β N (5.62%), CD71-72/β N (4.42%), and CD26/β N (3.94%), accounting for 91.13%. A total of 137 genotypes were detected in 1 460 children with both α- and β-thalassemia, mainly -- SEA /αα combined with CD41-42/βN (14.17%) and CD17/βN (8.35%). A total of 2 050 children were diagnosed with hemoglobin H disease (α 0 /α + ), among whom 134 had β-thalassemia heterozygote and 12 had Bart hydrops fetalis syndrome (-- SEA /-- SEA ); 355 children were diagnosed with β-thalassemia double heterozygote, and 128 were diagnosed with β-thalassemia homozygote, including 93 children with α-thalassemia., Conclusions: There are diverse gene mutations and rich genotypes of thalassemia among children in Guangxi, and α-thalassemia is more common, with -- SEA /αα as the major genotype. There is a high proportion of children with both α- and β-thalassemia, and there are relatively high incidence rates of β-thalassemia double heterozygote and homozygote (intermedia and major).

Objective: To analyze the hematological characteristics of Chinese G γ + ( A γδβ) 0 -thalassemia，SEA-HPFH and Taiwan type β-thalassemia., Methods: Hemoglobin electrophoresis and blood routine test were used to analyze the hematological indexes of all peripheral blood samples，PCR-Flow fluorescent hybridization and Gap-PCR were used to detect the globin gene mutations and the data were analyzed statistically., Results: The 3 types of deletion β- Thalassemia patients were showed as hypochromic small cell anemia. The MCH and MCV values of Taiwan type β-thalassemia patients were the lowest. The results of hemoglobin electrophoresis showed that the increasing of HbF was found in all of the 3 types. Except for the decreasing of Hb A2 in Chinese G γ + ( A γδβ) 0 -thalassemia，the levels of Hb A2 in the other two deletion β-thalassemia patients were significantly increased. Except for Hb, there were significant differences in MCV, MCH, Hb A2 and HbF between Chinese G γ + ( A γδβ) 0 -thalassemia and SEA-HPFH(P<0.001)., Conclusion: Through analyze the hematological characteristics, it can be provide that the guidance for the differential diagnosis and genetic consultation of the three commonest deletion β-thalassemia in Chinese.

Objective: To analyze the DNA sequences and clinical phenotypes of four cases with rare thalassemia to improve its recognition and accurate diagnosis. Methods: The DNA sequence characteristics of four cases with rare thalassemia diagnosed from May 2014 to December 2019 were retrospectively analyzed, and related literature was reviewed. Results: The results of the routine gene test for thalassemia indicated that the common three type of deletion and three point mutations in hemoglobin alpha 1/2 (HBA1/A2) , and 16 point mutations in hemoglobin beta (HBB) gene were unable to be detected in cases 1-3, and case 4 was--SEA. However, the results of HBA1/A2 and HBB whole-genome sequencing revealed that the four cases had a point mutation of HBB:c.347C>A, HBB:c.1A>G, HBB:c.393T>G, and HBA2: c.301-1G>A (IVS II-142 G>A) , respectively. Meanwhile, the father, aunt, and grandfather of case 2 carried the HBB:c.1 A>G heterozygous point mutation. Conclusion: The novel mutations in HBB and HBA2 genes, resulting in a rare thalassemia, were revealed. Among them, the HBB:c.347C>A, HBB:c.1A>G, and HBA2:c.301-1G>A (IVS II-142 G>A) mutations were first reported in Chinese patients with thalassemia. Contrarily, HBB:c.393T>G mutation has not yet been recorded in the databases of human hemoglobin variants and thalassemia. The discovery of these novel nucleotide variants in this study would enrich the DNA mutation gene database of thalassemia.

Objective: To investigate the screening of β-thalassemia among newborns in Wuhan region, so as to explore the influencing factors of Hb A in dried blood spot., Methods: Concentrations of Hb A,Hb A2,Hb F in the dried blood spots collected from 99 275 neonates in Wuhan region were analyzed by Sebia capillary electrophoresis. The screening result of β-thalassemia was interpretated accroding to the ratio of each group, the suspicious β-thalassemia newborns were recalled and the gene of thalassemia in those newborns was checked., Results: Among 99 275 newborns, 1 408 positive patients were found, and the positive rate of screening was 1.41%. A total of 350 patients with gene mutation were found among 709 β-thalassemia suspicious patients. There were significantly statistical differences of positive predictive value among Hb A levels in different groups and there were also significantly statistical differences of positive predictive values among gestational weeks in different groups. No significantly statistical differences were observed among different genetic defects and phenotypes of heterozygous β-thalassemia in Hb A concentrations. Postnatal day and gestational age were significantly and positively associated with Hb A concentrations., Conclusion: The capillary electrophoresis is an effective screening method for β-thalassemia of full-term neonate. Postnatal day and gestational age is associated with the pencentage of Hb A.

Objective: To explore the abnormal hemoglobinopathy in couples of child-bearing age in Chongqing., Methods: A total of 34 800 subjects of child-bearing age were screened for thalassemia by using capillary electrophoresis from January 2015 to September 2018. PCR-flow cytometry fluorescence hybridization assay was used to detect the common thalassemia gene deletions and mutations., Results: 8 kinds of abnormal hemoglobinopathy were detected in 200 cases from 34 800 subjects of child-bearing age, the detection rate was 0.57% in couples of child-bearing age in Chongqing: Among 200 cases of abnormal hemoglobin pathy, Hb E was found in 90 cases (accounting for 45.0%), and Hb D in 25 cases (accounting for 12.5%). Hb NewYork was found in 25 cases (accounting for 12.5%). HbJ-bangkok was found in 25 cases (accounting for 12.5%), and Hb Q-Thailand in 16 cases (accounting for 8.0%). Hb Hope was detected in 15 cases (accounting for 7.5%). Hb S was detected in 3 cases (accounting for 1.5%). Hb Hasharon was detected in 1 case (accounting for 0.5%). The mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of Hb E and Hb Q-Thailand were lower than normal reference intervals., Conclusion: The detection rate of abnormal hemoglobinopathy in Chongqing is higher than the average level in China. Capillary electrophoresis can effectively screen abnormal hemoglobinopathy, which is great significant for aristogenesis and improvement of population quality.

Objective: To compare the efficacy of different thalassemia screening strategies used for the couple of pre-pregnancy., Methods: A total of 1 159 couples were recruited in Chongqing health center for women and children from January 2019 to June 2019. Routine blood test, hemoglobin test and thalassemia gene test were performed for all the coulpes. The efficacy of thalassemia screening strategies were compared. Strategy 1: Hemoglobin was tested if the woman's MCV <80 fl and/or MCH <27 pg, and test for thalassemia genes was required further according to the result of hemoglobin test. If the woman was a thalassemia carrier, it is recommended that the man would receive the corresponding thalassemia gene test, and if the man carried the same type of thalassemia gene, so it meant positive. Strategy 2: the woman's blood cut-off value was MCV<82 fl and/or MCH<27 pg, and the follow-up procedure was the same as strategy 1. Strategy 3: If both of cople showed MCV (<80 fl) and/or MCH (<27 pg), the couple would be tested for hemoglobin electrophoresis, and if both of the couple showed abnomal result of hemoglobin electrophoresis, the couple would be tested for thalassemia gene. If the couple carried the same thalassemia gene, it meant positive. Strategy 4: If one of the couple or both of them showed MCV (<80 fl) and/or MCH (<27 pg), the couple would be tested for hemoglobin electrophoresis, if the couple showed MCV (<80 fl) and/or MCH (<27 pg) and/or the abnormal result of hemoglobin test, genetic test for thalassemia test were performed., Results: A total of 15 couples were thalassemia positive. According to the ROC curve, the area under the curve of strategy 2 was the largest but the cost was the highest. The area under the curve of strategy 4 was slightly less than that of strategy 2, but the cost was lower., Conclusion: Strategy 4 is recommended in the case of high degree of male cooperation and strategy 2 is recommended in the case of low degree of male cooperation.