Abstract Background ?-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations ?-globin gene aberration for genetic counseling, we examined prevalence triplication and genotype–phenotype correlation this subpopulation Methods A cohort 7644 subjects was selected from nine ethnicities covering four regions Peripheral blood collected each ...

Bệnh Thalassemia là bệnh di truyền phổ biến nhất trên thế giới. Ước tính tỷ lệ mang gen thalassemia trung bình trong cộng đồng tất cả các dân tộc Việt Nam 13,8%. β-thalassemia thể nặng có biểu hiện thiếu máu tan nặng, ảnh hưởng đến khả năng sống, chất lượng sống của người bệnh. Việc sàng lọc, chẩn đoán sớm bệnh, đóng vai trò quan trọng giúp hạn chế sinh ra trẻ mắc β-thalassemia. Nhiều kỹ thuật ...

We evaluated the use of an HPLC method for screening hemoglobins in cord blood. We studied the genotype frequencies of the structural hemoglobin variants HbS and HbC and the synthesis variants alpha- and beta(+)-thalassemia in babies born on Curaçao. During three months, 67.2% of all (748) newborns were screened: 122 (24.3%) had an abnormal hemoglobin pattern, of which 53 (43.4%) had a hemoglob...

Hemoglobin E (HbE) β-thalassemia is the most common severe thalassemia syndrome across Asia, and millions of people are carriers. Clinical heterogeneity in HbE β-thalassemia is incompletely explained by genotype, and the interaction of phenotypic variation with hepcidin is unknown. The effect of thalassemia carriage on hepcidin is also unknown, but it could be relevant for iron supplementation ...

Thalassemia is defined as a condition in which reduced rate of synthesis of one or more of the globin chains leads to defective haemoglobin production. Of the two major types, in alphathalassemia, occhain synthesis is absent or diminished and in beta-thalassemia, B-chain synthesis is absent or diminished. In B-thalassemia, anaemia occurs due to reduced B globulin, which in turn reduces HbA resu...

BACKGROUND The Gγ-158(C→T) polymorphism plays important function in the clinical variability of HbE/β-thalassemia. There is little known about Gγ-158(C→T) polymorphism in HbE/β-thalassemia major in Southern China. This study aimed to explore the association between HbE/β-thalassemia major and this polymorphism in Southern China. METHODS AND RESULTS The frequency of the Gγ-158(C→T) polymorphis...

Thalassemia is a group of hereditary hemoglobin disorders characterized by insufficient production at least one globin chain, resulting in unbalanced chains. Homozygous mutations the β-globin gene, absence β-chain, are main cause β-thalassemia major. Because β-chain major not formed, there an accumulation free α-chains red blood cells, which can trigger apoptosis and hemolysis ineffective eryth...

This study investigated prenatal diagnosis of α-thalassemia and β-thalassemia in 3049 families 18 regions Hainan Province. Molecular was performed couples with thalassemia Genomic DNA extracted from peripheral blood the villus, amniotic fluid, or cord fetuses. DNA-based using polymerase chain reaction. The most commonly detected mutation for was− SEA/αα (31.53%), followed by − α4.2/αα (11.15%) ...

Methods Among the 956 women with hemoglobinopathies in reproductive age enrolled in the Myocardial Iron Overload in Thalassemia (MIOT) project, we selected 17 women with thalassemia (14 with thalassemia major and 3 with transfusion-dependent thalassemia intermedia) who had a pregnancy with successful delivery and who performed a MRI scan before and after the pregnancy. Myocardial and liver iron...

As the life expectancy of β-thalassemia patients has markedly improved over the last decade, several new complications are being recognized. The presence of a high incidence of thromboembolic events, mainly in thalassemia intermedia patients, has led to the identification of a hypercoagulable state in thalassemia. In this review, the molecular and cellular mechanisms leading to hypercoagulabili...