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...

Thalassemia intermedia is a clinical definition applied to patients whose clinical phenotype is milder than that of thalassemia major. Criteria used to define thalassemia intermedia including age at presentation, hemoglobin or fetal hemoglobin levels and transfusion independence, are unsatisfactory. The possibility of typing the molecular defect allows a retrospective analysis of patients and o...

A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the -3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region. Multivariate analysis was performed to study the risk of thalassemia In...

Thalassemia intermedia (TI), also known as nontransfusion dependent thalassemia (NTDT), is a type of thalassemia where affected patients do not require lifelong regular transfusions for survival but may require occasional or even frequent transfusions in certain clinical settings and for defined periods of time. NTDT encompasses three distinct clinical forms: β-thalassemia intermedia (β-TI), Hb...

BACKGROUND Delta beta (δβ) thalassemia is an unusual variant of thalassemia with elevated level of fetal hemoglobin (HbF). Homozygous patients of this disorder, unlike β-thalassemia, show mild anemia. Only few cases of δβ-thalassemia have been reported from India in the available indexed English literature. CASE PRESENTATION A four-year old male child was evaluated for recent-onset jaundice. ...

The most common hypochrom microcytic anemia are iron deficiency anemia (IDA) and thalassemia minor (TM). The results of some studies have shown that IDA can cause misdiagnosis of heterozygote β-thalassemia due to decrease in HbA2 level. Our aim in this study was evaluating the effect of IDA on HbA2 levels; Furthermore hematolagic values in CBC of these two diseases will be compared. In this stu...

Thalassemia and Sickle Cell Disease (SCD) both are genetic blood disorders occurring by destruction in red blood cells (RBCs). Every year about 300,000 infants worldwide are born with Thalassemia syndrome (30 per cents) and sickle cell anaemia (70 per cents. Globally, the percentage of carriers of Thalassemia is greater than that of carriers of SCA, but because of the high frequency of the sick...