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Objectives: To explore the genotypic and phenotypic characteristics of HBB : c.316-146T > G carriers in China., Methods: The blood routine parameters and hemoglobin electrophoresis data of carriers were analyzed using PCR combined with reverse dot blot (RDB), gap-PCR, and DNA sequencing., Results: The blood routine parameters of all these three cases were MCV < 82fl and MCH < 27pg, and hemoglobin electrophoresis showed HbA 2  ≥ 4.60%. Genetic testing results: two cases were heterozygous mutations of HBB :c.316-146T > G, the other one was heterozygous mutation of HBB :c.316-146T > G combined with - SEA deletion., Conclusion: The hematological phenotype of HBB :c.316-146T > G mutation carriers is similar to that of common β + heterozygous mutations, presenting with hypochromic, microcytic red cell indices. If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types.

Objective: To analyze the hematological phenotype and genotype of HbA2 : c.96-2A > G carriers., Methods: The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing., Results: Among the 7 patients, one adult patient had normal hemoglobin levels, with slightly decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). Hb Bart's band was found in 6 neonates by hemoglobin electrophoresis, of which the content of Hb Bart's band in 1 neonate was 15.80%, and the content of Hb Bart's band in the other 5 neonates was 0.30%-0.90%. The results of genetic analysis showed that all the 7 patients had HbA2 : c.96-2A > G (IVS-I-116A > G) mutation, in which 1 case was compounded with - SEA deletion., Conclusion: HbA2 : c.96-2A > G mutation carriers exhibit the phenotype of α-thalassemia, and when the HbA2 :c.96-2A > G mutation is combined with - SEA deletion, an intermediate phenotype of anemia is produced.

This study aimed to analyze the clinical phenotype of the HBA2 : c.95G>A mutation in the Chinese population and to provide guidance for clinical diagnosis and genetic counseling. Peripheral blood samples were collected from 16 patients, including 6 newborns, 2 children, and 8 adults. Hematological parameters and hemoglobin electrophoresis were analyzed, and genotypes were identified using methods such as PCR combined with reverse dot blot (RDB), nested PCR, gap polymerase chain reaction (Gap-PCR), and DNA sequencing. The results showed that 10 patients had mild anemia, 2 had moderate anemia, and 12 exhibited microcytic hypochromic features with MCV values ranging from 53 to 74.7 fl and MCH values from 16.2 to 25.4 pg. Additionally, 3 cases displayed obvious HbH + HbBarts bands (>15%). Among the 16 cases, various combinations of the HBA2 : c.95G>A mutation were observed: one case had -α 3.7 combined with HBA2 : c.95G>A, another had -α 4.2 combined with HBA2 : c.95G>A, and five had - SEA combined with HBA2 : c.95G>A, while the remaining cases were HBA2 : c.95G>A heterozygotes. The study concludes that the HBA2 : c.95G>A mutation in the α2 globin gene causes α+ thalassemia. When this mutation is combined with the Southeast Asian deletion (- SEA ), it results in HbH disease, characterized by moderate microcytic hypochromic anemia and the presence of HbH + HbBarts bands.

Objective: To analyze the clinical characteristics and prognostic impacts of SARS-CoV-2 Omicron infection among cancer inpatients during the December 2022 - February 2023 surge, in order to provide scientific evidence for clinical treatment and prevention and control measures., Methods: A retrospective analysis was conducted on the clinical features, prognosis, and vaccination status of cancer in-patients infected with the Omicron variant during the COVID-19 pandemic of December 2022 - February 2023., Results: A total of 137 cancer inpatients were included in the study, with a median age of 61 years, and 75 patients (54.74%) were male. The main symptoms were cough (69 cases, 50.36%), expectoration (60 cases, 43.80%), and fever (53 cases, 39.69%). Chest CT examination revealed bilateral pneumonia in 47 cases (34.31%, 47/137) and pleural effusion in 24 cases (17.52%, 24/137). Among the cancer patients, 116 cases (84.67%, 116/137) had solid tumors, and 21 cases (15.33%, 21/137) had hematologic malignancies, with the main types being breast cancer (25 cases, 18.25%) and lung cancer (24 cases, 17.52%). Among the cancer patients, 46 cases (33.58%) were asymptomatic, 81 cases (59.12%) had mild disease, 10 cases (7.30%) had severe infection, and 8 cases (5.84%) died. A total of 91 patients (66.42%) had been vaccinated, with 58 patients (42.34%) receiving three doses. Multivariate analysis showed that cerebral infarction and hypoproteinemia were risk factors for death from COVID-19 infection., Conclusion: Cancer patients infected with SARS-CoV-2 Omicron typically exhibit mild disease manifestations, but some cancer patients infected with the Omicron variant might progress to severe illness, and even death, necessitating close monitoring and attention during the early stages of infection. Additionally, the presence of cerebral infarction and hypoproteinemia significantly increases the risk of death., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Liu, Liao, Yu, Rong, Chen, Chen, Zeng and Yang.)

Objective: To investigate the clinical characteristics and risk factors of patients with SARS-CoV-2 Omicron variant infection complicated with cardiovascular diseases., Methods: A retrospective analysis of general clinical data was conducted on patients with SARS-CoV-2 omicron infection complicated with hypertension, coronary heart disease, and heart failure admitted to one hospital in Guangdong Province from December 1, 2022, to February 28, 2023. Clinical symptoms, laboratory tests, imaging examinations, treatment, and clinical outcomes were collected. Multivariate logistic regression analysis was used to analyze the risk factors for mortality in patients with SARS-CoV-2 Omicron variant infection complicated with cardiovascular diseases. ROC curves were drawn to evaluate the predictive value of CRP, D-dimer, and CK-MB in predicting the risk of death., Results: A total of 364 confirmed cases were included, divided into the asymptomatic group, mild to moderate group, and severe to critically ill group based on the symptoms of COVID-19. There were 216 males (59.34%) and 148 females (40.66%), with a median age of 75 years. The differences between the three groups in terms of sex and age were statistically significant ( p  < 0.05). The top three underlying diseases were hypertension (288 cases, 79.12%), coronary heart disease (100 cases, 27.47%), and diabetes (84 cases, 23.08%). The differences in unvaccinated and triple-vaccinated patients among the three groups were statistically significant ( p  < 0.05). The common respiratory symptoms were cough in 237 cases (65.11%) and sputum production in 199 cases (54.67%). In terms of laboratory tests, there were statistically significant differences in neutrophils, lymphocytes, red blood cells, C-reactive protein, D-dimer, aspartate aminotransferase, and creatinine among the three groups ( p  < 0.05). In imaging examinations, there were statistically significant differences among the three groups in terms of unilateral pulmonary inflammation, bilateral pulmonary inflammation, and bilateral pleural effusion ( p  < 0.05). There were statistically significant differences among the three groups in terms of antibiotic treatment, steroid treatment, oxygen therapy, nasal cannula oxygen inhalation therapy, non-invasive ventilation, and tracheal intubation ventilation ( p  < 0.05). Regarding clinical outcomes, there were statistically significant differences among the three groups in terms of mortality ( p  < 0.05). Multivariate logistic regression analysis showed that CRP (OR = 1.012, 95% CI = 1.004-1.019) and D-dimer (OR = 1.117, 95% CI = 1.021-1.224) were independent risk factors for patient mortality. The predictive value of CRP, D-dimer, and CK-MB for the risk of death was assessed. D-dimer had the highest sensitivity (95.8%) in predicting patient mortality risk, while CRP had the highest specificity (84.4%)., Conclusion: For patients with COVID-19 and concomitant cardiovascular diseases without contraindications, early administration of COVID-19 vaccines and booster shots can effectively reduce the mortality rate of severe cases. Monitoring biomarkers such as CRP, D-dimer, and CK-MB and promptly providing appropriate care can help mitigate the risk of mortality in patients., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Yu, Liao, Rong, Chen, Li, Zeng, Liu, Cao, Liang, Lai, Zeng, Huang and Yang.)

Objectives: The prevalence of G6PD deficiency has not been reported in Yangjiang, a western city in Guangdong province. This study aims to investigate the molecular characteristics of G6PD deficiency in this region. Methods: Blood samples were collected from adults at a local hospital to screen for G6PD deficiency. The deficient samples were subjected to further analysis using PCR and reverse dot blot to determine the specific G6PD variants. Results: Among the 3314 male subjects, 250 cases of G6PD deficiency were found using the G6PD enzyme quantitative assay, resulting in a prevalence of 7.54% (250/3314) in the Yangjiang region. The prevalence of G6PD deficiency in females was 3.42% (176/5145). Out of the 268 cases of G6PD deficiency tested for G6PD mutations, reverse dot blot identified 20 different G6PD variants. The most common G6PD variant was c.1388G>A (81/268), followed by c.1376G>T (48/268), c.95A>G (32/268), c.1024C>T (9/268), c.392G>T (7/268), and c.871G>A/c.1311C>T (6/268). It was observed that c.871G>A was always linked to the polymorphism of c.1311C>T in this population. Conclusion: This investigation into G6PD deficiency in this area is expected to significantly improve our understanding of the prevalence and molecular characterization of this condition., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Liang, Cao, Lin, Yang, Liao, Ou, Chen, Zeng, Huang, Zeng, Chen, Situ, Yao and Yang.)

Objective: The objective of this study was to analyze the clinical characteristics of pregnant women infected with the COVID-19 omicron variant and their neonates during the outbreak in Guangdong province, China., Methods: The clinical data of pregnant women infected with the COVID-19 omicron variant and their neonates were retrospectively collected from two hospitals in Guangdong province. Information recorded included age of mother, date of birth, sex, weight at birth, mode of delivery, gestational age, feeding mode, Apgar score, signs, medical records, underlying comorbidities and laboratory results. The presence of SARS-CoV-2 viral RNA was tested using an real-time PCR assay., Results: Seventy-nine pregnant women infected with COVID-19 omicron variant and their 68 neonates were included in this study. The vast majority (86.1%) of pregnant women was in their third trimester of pregnancy, and only 11 cases (15%) were in the first or second trimester. Of 79 pregnant women, 39 cases were asymptomatic at the time of infection, and 40 mothers presented with mild manifestations of COVID-19. The most common symptoms were fever (92.5%, 37/40) and cough (57.5%, 21/40). All of pregnant women did not receive chest computed tomography (CT) scan or X-ray. No pregnant woman developed severe pneumonia. A total of 68 neonates (3 set of twins) from 65 mothers with COVID-19 were reviewed. Among women who delivered, 34 cases underwent cesarean section, 31 cases underwent vaginal delivery. According to the timing of birth, there were 10 (14.7%) preterm neonates. Two babies were born dead (intrauterine fetal death after 22 weeks of gestation). Of the live babies born (66 cases) from mothers with COVID-19, 9 newborns were lower weight, and one preterm case was born with respiratory distress and intubated, he recovered and developed normally. SARS-CoV-2 nucleic acid testing was conducted on 41 neonates daily after birth, with only one neonate testing positive for SARS-CoV-2 infection on the third day after birth. The infected neonate exhibited typical fever and acute respiratory tract syndrome but ultimately had a good prognosis, recovering after 5 days of treatment., Conclusion: Although preliminary data suggests the risk of severe maternal and fetal complications from Omicron variant infection during pregnancy is lower than previous variants and Delta variant. Our study, which was conducted on a limited population sample, indicates that there is a possibility of severe complications, such as stillbirth, occurring in some fetal cases. These findings emphasize the need for continued attention from obstetricians., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Liu, Lin, Lin, Yang, Lin, Zhang, Huang, Liao, Zeng, Zeng, Cao, Zhu and Yang.)

Objective: To analyze the clinical characteristics of neonatal infection during the outbreak of COVID-19 omicron variant in Guangdong province of China., Method: The clinical data of neonates infected with COVID-19 omicron variant were collected from three hospitals of Guangdong province, their epidemiological history, clinical manifestation and prognosis were summarized., Results: From December 12, 2022 to January 15, 2023, a total of 52 neonates with COVID-19 infection were identified across three hospitals in Guangdong Province, including 34 males and 18 females. The age of diagnosis was 18.42 ± 6.32 days. 24 cases had clear contact history with adults who were suspected to be infected with COVID-19. The most common clinical manifestation was fever (43/52, 82.7%), the duration of fever was 1-8 days. The other clinical manifestations were cough (27/52, 51.9%), rales (21/52, 40.4%), nasal congestion (10/52, 19.2%), shortness of breath (2/52, 3.8%), and vomiting (4/52, 7.7%). C-reactive protein was only increased in 3 cases. Chest radiological examination was performed in 42 neonates, twenty-three cases showed abnormal chest radiographic findings, including ground-glass opacity and consolidation. Fifty cases were admitted with COVID-19 presentation, two cases were admitted for jaundice. The hospital stay was 6.59 ± 2.77 days. The clinical classification included 3 cases of severe COVID-19 and one critical case. Fifty-one cases were cured and discharged after general treatment, and one critical case with respiratory failure was intubated and transferred to another hospital., Conclusion: The COVID-19 omicron variant infection in neonates is usually mild. The clinical manifestation and laboratory results are not specific, and the short-term prognosis is good., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Yang, Lin, Lin, Lin, Liu, Ma, Wang, Liao, Huang, Zeng, Xiao, Huang, Xu, Chen, Cao and Yang.)

Background: Thalassemia presents a higher incidence in southern China. The objective of this study is to analyze the genotype distribution of thalassemia in Yangjiang, a western city of Guangdong Province in China. Methods: The genotypes of suspected cases with thalassemia were tested by PCR and reverse dot blot (RDB). Unidentified rare thalassemia genotypes of the samples were further ascertained by PCR and direct DNA sequencing. Results: Among 22467 suspected cases with thalassemia, 7658 cases were found with thalassemia genotypes using our PCR-RDB kit. Among these 7658 cases, 5313 cases were found with α-thalassemia (α-thal) alone, -- SEA /αα was the most common genotype, accounting for 61.75% of α-thal genotypes, and the following mutations were found: α 3.7 /αα, -α 4.2 /αα, α CS α/αα, α WS α/αα, and α QS α/αα. A total of 2032 cases were found with β-thalassemia (β-thal) alone. β CD41-42 /β N , β IVS-II-654 /β N , and β -28 /β N accounted for 80.9% of all β-thal genotypes, and the following genotypes were found: β CD17 /β N , β CD71-72 /β N , and β E /β N . Compound heterozygotes of β-thal and β-thalassemia homozygotes were identified in 11 and five cases, respectively, in this study. α-thal combined with β-thal was identified in 313 cases, showing 57 genotype combinations of the coincidence of both Hb disorders; one extreme patient had a genotype of -- SEA /α WS α and β CD41-42 /β -28 . In addition, four rare α -mutations (-- THAI , HKαα, Hb Q-Thailand, and CD31 AGG>AAG) and six rare β-mutations (CD39 CAG>TAG, IVS-Ⅱ-2 (-T), -90(C>T), Chinese G γ + (Aγδβ)0, CD104 (-G), and CD19 A>G) were also found in this study population. Conclusion: This study provided detailed genotypes of thalassemia in Yangjiang of western Guangdong Province in China and reflected the complexity of genotypes in this high-prevalence region, and this would be valuable for diagnosis and counseling for thalassemia in this area., Competing Interests: Authors L-JL, Y-YG, and ML were employed by Guangdong Hybribio Limited Corporation. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Liang, Liang, Xie, Lin, Liu, Li, Ge, Lu, Liao, Zeng, Yao, Situ and Yang.)