T HE HUMAN a-globin gene complex on chromosome 16 consists of two adult a-genes (al and ct2), an embryonic c-gene, and associated pseudogenes.’ Disorders of a-chain synthesis result in diminished (a thalassemia) or absent (a#{176}thalassemia) a-chain production from the affected chromosome. Molecular analysis has revealed ddetion and nondeletion defects of which, unlike the fl-thalassemias, del...

INTRODUCTION Thalassemia is the most common genetic disorder and rising in the world as a health problem. Due to the criticality of this disease, in our country thalassemia prevention programs are more importance. The aim of this study was investigation of knowledge, attitude and behavior of marrying partners who were thalassemia genetic carriers in prevention of the birth of the children with ...

Upon erythroid cell maturation in vivo, beta-thalassemic erythroid cells accumulate unmatched unstable alpha-globin chains that are believed to be a causal factor in such cell destruction. This study showed that beta-thalassemia/Hb E erythroid precursor cells from peripheral blood had accelerated maturation, and could mature to the terminal erythroid stage. During the early period of cell cultu...

Objective: To determine the awareness among student of Pharm D, MBBS and general population with thalassemia major (TM) regarding the disease. Methods: This (cross sectional) study was conducted among students of MBBS, Pharm. D in different private and government sector universities in Karachi having close ended questions related to their knowledge about thalassemia from Sep 2013 to October 201...

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BACKGROUND The molecular defects resulting in a β-thalassemia phenotype, in the Egyptian population, show a clear heterogenic mutations pattern. PCR-based techniques, including direct DNA sequencing are effective on the molecular detection and characterization of these mutations. The molecular characterization of β-thalassemia is necessary for carrier screening, genetic counseling, and to offer...

Xmn1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and Sickle Cell Diseases contributes to a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn1 polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. 60 sickle...

BACKGROUND Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA) patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients. METHODS AND FINDINGS We studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA) with m...

β-thalassemia, a congenital genetic hematological disorder characterized by the decrease or absence of β-globin chains, leads to in levels Hemoglobin A. The affected individuals can be categorized into two cohorts based on transfusion dependency: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent (NTDT). Remarkably, despite primary pathology lying chain depletion, β-thalassem...