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Introduction: Patients with thalassemia increase the risk of developing cognitive impairment. Chronic anemia, oxidative stress from excess iron, and hypercoagulable state were related to this condition. The study regarding its prevalence and the associated factor in Southeast Asia is limited. Therefore, the study aimed to investigate the prevalence of cognitive impairment and associated factors. Methods: This was a cross-sectional study of thalassemic patients aged 18 years or more at the Hematology Clinic of Srinagarind Hospital, Khon Kaen University, Thailand, from January to May 2021. The Thai version of the Mini-Cog test was used to determine the presence of cognitive impairment. The clinical and laboratory parameters indicated as potential risk factors for dementia were evaluated in all patients. A stepwise logistic regression analysis was used to determine the associated risk factors for cognitive impairment. Results: Among 150 patients, cognitive impairment was found in 40 patients (26.7%). Age per 10-year increase (adjusted odds ratio [AOR] of 1.6), no iron chelation therapy (AOR of 9.8), current smoking (AOR of 5.0), hemoglobin (Hb) (AOR of 0.63), and ferritin (AOR of 1.0001) were independent factors associated with cognitive impairment. Conclusions: The prevalence of cognitive impairment was high among thalassemic patients. Increasing age, low Hb, iron overload, and current smoking were significant associated factors with cognitive impairment. Screening for dementia in these patients is recommended, particularly in patients with high-risk factors. [ABSTRACT FROM AUTHOR]

Objective: Hypertensive disorders during pregnancy are one of main causes for maternal and perinatal morbidity and mortality in developing countries. This study is to determine whether specific types of anemia are risk factors for hypertensive disorders during pregnancy in developing countries.Methods: Using data from the World Health Organization Global Survey for Maternal and Perinatal Health, collected in hospitals in six African and six Latin American countries from 2007 to 2008 and in four Asian countries from 2004 to 2005, we examined the associations between severe anemia, sickle cell disease and thalassemia, and gestational hypertension or preeclampsia/eclampsia.Results: A total of 214,067, 112,531, and 9,325 women were included in the analyses on severe anemia, sickle cell disease, and thalassemia, respectively. Multiparous women with severe anemia were at an increased risk of gestational hypertension (adjusted odds ratio (aOR): 1.73; 95% confidence interval (Cl): 1.25-2.39). Severe anemia had a significant association with preeclampsia/eclampsia for nulliparous (aOR: 3.74; 95% Cl: 2.90-4.81) and multiparous (aOR: 3.45; 95% Cl: 2.79-4.25) women. Sickle cell disease exhibited a significant association with gestational hypertension among nulliparous (aOR: 2.41; 95% Cl: 1.42-4.10) and multiparous (aOR: 3.26; 95% Cl: 2.32-4.58) women. No significant associations were found between sickle cell disease and preeclampsia/eclampsia, or between thalassemia and either gestational hypertension or preeclampsia/eclampsia.Conclusions: Severe anemia appears to be a risk factor for preeclampsia/eclampsia, while sickle cell disease may be a risk factor for gestational hypertension among women seeking hospital care in developing countries. [ABSTRACT FROM AUTHOR]

Hb Constant Spring [(Hb CS) α142, Term→Gln ( TAA> CAA in α2)] and Hb Koya Dora [α142, Term→Ser (T AA>T CA in α2)] both involve mutations of the α2 gene stop codon and while Hb CS is the most frequent cause of nondeletional α-thalassemia (α-thal) in Southeast Asia, Hb Koya Dora is limited to a restricted population from Andhra Pradesh, India. Here we identify a homozygous case of Hb Koya Dora and confirm the structure of the 31 residue α chain extension. [ABSTRACT FROM AUTHOR]

Asia, hemoglobin (Hb), thalassemia Keywords: Asia; hemoglobin (Hb); thalassemia EN Asia hemoglobin (Hb) thalassemia 1 1 1 08/16/22 20220101 NES 220101 During these last 30 years there have been many advances in the field of thalassemia and hemoglobinopathies research. Regional networks for thalassemia control have been established and a training center for thalassemia has been set up at the Guangxi Medical University, Nanning, Guangxi, People's Republic of China (PRC). [Extracted from the article]

α-Thalassemia-1 Southeast Asian (SEA) type is the most common genetic disorder in the Asian population. Couples who are both carriers have a 25% chance of conceiving Bart’s hydrops fetalis. Therefore, results from carrier screening and prenatal diagnosis frequently need to be available rapidly. A rapid technique for diagnosis of α-thalassemia-1 SEA type was implemented. The technique used is based on real-time gap-PCR and high resolution melting (HRM) analysis of the amplified fragment using the Rotor-Gene 6000™. The DNA samples used for amplification were obtained from whole blood, cord blood, and chorionic villus sampling (CVS). With this method, the α-thalassemia-1 SEA allele can be easily distinguished from wild type α-globin gene allele. The real-time gap-PCR and HRM analysis offers additional benefits including minimal labor, rapid turnaround time, and a decreased risk of PCR carryover contamination. It is cost-effective and safe, does not require fluorescently labeled probe and hazardous chemicals. Moreover, it is accurate showing 100% concordance with conventional gap-PCR analysis. [ABSTRACT FROM AUTHOR]

α-Thalassemia mutations are one of the most common mutations of man, and they cause Hb H disease and Hb Barts hydrops fetalis. Hb H disease is not necessarily a benign disorder as has been generally thought. Furthermore, in southern China and in Southeast Asia, there are 2-3 times more fetuses afflicted with the invariably fatal Hb Barts hydrops fetalis than with the β- thalassemia major or intermedia. These findings underscore the public health importance of these hereditary disorders, and they call for better education, diagnosis, treatment, prevention, and research for these diseases. [ABSTRACT FROM AUTHOR]

Thalassemia is a growing global public health problem with an estimated 900,000 births of clinically significant thalassemia disorders expected to occur in the next 20 years. This growth will occur in disorders previously uncommon in many parts of the world. In particular, hemoglobin (Hb) E-β- thalassemia and Hb H disease account for much of the projected increases in thalassemia. Worldwide, Hb E-β-thalassemia is one of the most frequent hemoglobinopathies. The incidence of Hb E approaches 60% of the populations in many regions of Southeast Asia. In coastal regions of North America, its prevalence is rapidly growing. The severity of Hb E-β-thalassemia ranges from a complete lack of symptoms to transfusion dependence. α-Thalassemia diseases, often considered benign, are now recognized to be more severe than originally reported. Hb H, Hb H-constant spring (CS), and homozygous α-thalassemia affect at least a million people worldwide. California considers Hb H disease a public health problem and has initiated a neonatal screening program for Hb H and particularly Hb H-CS. Homozygous α-thalassemia, usually fatal, is also being more commonly detected. Several regions have initiated universal prenatal screening programs to address homozygous α-thalassemia. In summary, the prognosis for thalassemia disorders is improving, but prenatal diagnosis and neonatal screenings are needed. Comprehensive services that address language and social barriers as well as access to Hb F-enhancing agents and transfusions are needed. [ABSTRACT FROM AUTHOR]

The thalassemias occur at some of their highest frequencies in the developing countries, particularly those of Asia. In many countries, facilities for the control of these conditions are extremely limited. Although a great deal can be done to help the situation by developing further North-South and South-South partnerships for disseminating better practice, the major problem for the future lies in the unwillingness of governments and international health agencies to accept that the thalassemias present a health burden comparable to that of other major diseases in the developing countries. However, preliminary analyses suggest that, at least in the case of Asia, this is not true. Further work of this nature, together with more detailed frequency and economic data, are required to provide solid evidence for the health burden posed by thalassemia in the developing world. Unless this is done, the large populations of patients with thalassemia in these countries will continue to be neglected. [ABSTRACT FROM AUTHOR]

Hb Evanston [α14(A12)Trp → Arg] is considered to be a rare α chain mutant, and was originally observed in two Black families in 1982, inducing a mild Hb H disease phenotype in a homozygous state for the − α3.7 deletion ( − αEvanston/ − α). The mutant, evidently linked with one of the two − α3.7 thalassemia (thal) alleles, was considered to be unstable and rapidly proteolyzed. We describe Hb Evanston in three new independent Asian cases, all induced by a TGG → CGG transition. In all cases the mutation is linked to the α1-globin gene, either on a wild type allele or in linkage with the common − α3.7 and − α4.2 deletion alleles. The β/α ratio was balanced in the presence of the mutation only, and accordingly unbalanced in co-inheritance with the deletion defects. Although a second independent mutation event on a − α3.7 or a − α4.2 deletion allele could not be excluded, we conclude that at least one independent Hb Evanston mutation has occurred on a wild type allele in the Asian populations. Unstable Hb tetramers tend to degrade and disappear during purification. Both Hb Evanston tetramers, formed in combination with normal β and δ chains, remain perfectly stable after extensive purification and concentration steps, suggesting an early posttranslational thalassemic effect, probably at the dimer/tetramer affinity level. [ABSTRACT FROM AUTHOR]

Summary. Reduction of bone density and its associated morbidity is recognized in young adults with β-thalassaemia major, but the aetiology is not clear. This study used dual X-ray absorptiometry (DXA) to look at bone mineral apparent density (BMAD) in children and young adults with thalassaemia in a predominantly Asian population, in the context of sexual maturation. Fifty-five patients were scanned (mean age 13·8 years, range 5·9–37·5) and BMAD z-scores were calculated using normal data from locally recruited control subjects. Eighteen patients had undergone bone marrow transplantation (BMT) and the remainder were on a transfusion/chelation regimen. BMAD z-scores ranged from – 3·3–1·6 with a mean of -0·92. No difference in BMAD was found between those patients treated conventionally and those who had undergone BMT. When comparing mean BMAD z-score according to sexual maturation, there was a highly significant difference (P < 0·0001) between those whose pubertal maturation was age appropriate (mean z-score -0·22), when compared with those who had disordered puberty (mean z-score -1·82). We have shown that failure to progress normally through puberty is highly significant in the failure of adequate bone mineralization and achievement of peak bone mass in thalassaemic patients. The management of these patients should therefore be pro-active to anticipate problems and facilitate normal sexual maturation. [ABSTRACT FROM AUTHOR]

Thalassemia and abnormal hemoglobins are common genetic disorders in Asia. Thalassemia is not only an important public health problem but also a socio-economic problem of many countries in the region. The approach to deal with the thalassemic problem is to prevent and control birth of new cases. This requires an accurate identification of the couple at high risk for thalassemia. However, the diagnosis of thalassemia carrier states need several tests which are not practical for screening the population at large. Recently we have used two simple laboratory tests to screen for potential thalassemia carriers and hemoglobin E individuals. There is also a new development in using the automatic HPLC to diagnose thalassemic diseases and the carriers. This system gives both qualitative and quantitative analysis of hemoglobin components in the same run with good precision and reproducibility. The system has been applied to study thalassemia and abnormal Hb in adult and cord blood. This system has enabled us to do both prenatal and postnatal diagnosis of thalassemia within the few minutes. However, none of these screening tests can accurately give specific diagnosis of the thalassemia genotype. Specific thalassemia mutation can be carried out by DNA analysis. Many DNA techniques have been used for point mutation detection and small deletion. For the last few years there is a development of DNA chip technology that has been applied for thalassemia mutation as well. Clinically, thalassemia is very heterogeneous in the manifestation. In spite of seemingly identical genotypes, severity of beta thalassemic patients can vary greatly. Heterogeneity in the clinical manifestation of beta thalassemic diseases may occur from the nature of beta globin gene mutation, alpha thalassemia gene interaction and difference in the amount of Hb F production which is partly associated with a specific beta globin haplotype. However, there is still some beta thalassemia cases that have a mild clinical symptom without those known genetic fators interaction suggesting that there are other additional factors responsible for the mildness of the disease. [ABSTRACT FROM AUTHOR]

Unlabelled: As survival improves in beta-thalassaemia, osteoporosis is emerging as a significant problem. This study examines bone mineral density (BMD) of thalassaemic patients of Asian origin (age range 9.5-24 y) to evaluate the extent of problems in this group and identify potential risk factors. Eleven patients were scanned using dual-energy X-ray absorptiometry. BMD z-scores and the bone mineral apparent density (BMAD) z-scores were calculated, to correct for short stature. All but three patients had lumbar spine BMD and BMAD z-scores below the mean. Three patients had BMAD z-scores more than 2.5 standard deviations below the mean. A negative correlation between age and BMAD was seen, as was an association between endocrine disorders and decreased bone density.Conclusion: The data confirm significant reductions in BMD in the Asian thalassaemic population, even after correcting for body size. Further research is needed to identify risk factors and means of prevention. [ABSTRACT FROM AUTHOR]

Bangladesh is a country with a population of 160 million with a gross national income per capita of US$1580.00. The major health problems in Bangladesh include acute respiratory infection, pneumonia, dengue fever, malaria and water-borne diseases. The health care system in Bangladesh is divided into primary secondary and tertiary levels, with each level having their own breakdown of available hospital beds and other treatment facilities. Thalassemia is a major health problem in Bangladesh. There are two types of thalassemia in Bangladesh: β-thalassemia (β-thal) and Hb E ( HBB : c.79G>A)/β-thal, with the prevalence rate of β-thal trait being 4.1% and Hb E trait 6.1%. This study discusses spectrum types of thalassemia and hemoglobinopathies in Bangladesh and the types of carrier detection. The distribution of common mutations of thalassemia are also discussed and the distribution frequencies of genotypes and alleles of β-thal and Hb E patients are also compared. Additionally, we also conducted a study of the spectrum of thalassemia using high performance liquid chromatography (HPLC) of the tribal populations and analyzed the findings in our discussion. The results of these studies show that the phenotypic and genotypic presentation in Bangladesh is highly diverse. To properly understand this, we have to conduct an epidemiological survey of the population. Furthermore, there also has to be improvement on the awareness of thalassemia among the population to properly equip themselves to survive this disease.

To investigate the possible causes of an increased incidence of red cell microcytosis in Asian children, 204 Gujarati Asian children and 88 European children attending community infant welfare clinics underwent initial screening tests for determination of red cell indices. Seventy six Asian (37%) and nine European (12%) children had microcytic red cells (mean corpuscular volume less than 74 fl). Further investigation showed that 16 of the Asian children (21%) with microcytosis had thalassaemia trait (eight were heterozygous for alpha thalassaemia and eight for beta thalassaemia), and 50 (66%) had suspected iron deficiency (confirmed by a response to oral iron in 41 cases): the remaining 'microcytic' children were aged less than 2 years, when mean corpuscular volume between 70 and 74 fl may be normal. Increased values for serum total iron binding capacity were more sensitive in detecting iron deficiency than reduced serum ferritin concentrations. Enthusiastic screening for microcytic anaemia in young children may mean that a substantial minority with thalassaemia genes are given unnecessary iron supplements. The response to a short course of oral iron should therefore be carefully monitored, and the possibility of thalassaemia trait as well as non-compliance with treatment should be reconsidered in all those in whom there is little or no response. [ABSTRACT FROM AUTHOR]

Abstract: Alpha thalassemia major and choriocarcinoma are two poles apart clinical entities. While the former represents an autosomal recessive disorder of hemoglobin synthesis, the later constitutes an aggressive malignant tumor usually of placental origin with predilection for women above 35years, and those with history of hydatidiform mole and previous spontaneous abortion. Surprisingly, these two entities share strikingly similar geographic distribution. Although dietary deficiency esp of carotene and animal fat, and difference in methodology of study has been blamed for high occurrence of choriocarcinoma in Asia region, a very plausible explanation may be the high rate of spontaneous abortion in this region secondary to high incidence of alpha thalassemia major. While it is worthwhile investigating the factors that increases the risk of choriocarcinoma on account of its high prevalence in Southeast Asia, understanding the influential role of alpha thalassemia in its strikingly higher occurrence will definitely aid in further reducing its incidence to a minimum. [Copyright &y& Elsevier]