The clinical presentation of β-thalassemia intermedia phenotypes are influenced by many factors. The persistence of fetal hemoglobin and several polymorphisms located in the promoters of γ- and β-globin genes are some of them. The aim of this study was to evaluate the combined effect of the -158 Gγ (C→T) polymorphism and of the (AT)x(T)y configuration, as well as their eventual association with...

normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 β-thalassemia (cooley anemia) initially was described by dr cooley. [1] it is recognized that various types of thalassemia are inherited anemia caused by mutations at the globin gene, affecting the production of é‘ - or β-globin protein. the anemia interferes with red cell maturation. [2] β-globin gene mutations give rise ...

Background Thalassemia is a common inherited hemoglobin disorder caused by deficiency of one or more globin subunits. Substitution variants and deletions in the HBB gene are major causes β-thalassemia, which large fragment rare difficult to be detected conventional polymerase chain reaction (PCR)-based methods. Case report In this study, we reported 26-year-old Han Chinese man, whose routine bl...

OBJECTIVE Anti-apoptotic proteins such as Bcl-2 and Bcl-xL may play a role in the survival of erythroid progenitor cells. Information about these proteins in patients with β-thalassemia minor is limited. We aimed to determine the levels of serum Bcl-2 in patients with β-thalassemia minor. MATERIALS AND METHODS Ninety-seven patients (60 females and 37 males with mean age of 29±21 years) with β...

Thalassemia is the most common inherited single gene blood disease worldwide and present a significant health problem in world. Approximately, 1.5% of global populations (An estimated 80–90 million people) are carriers β-thalassemia. Around 5% Indonesia population thought to carry thalassemia gene. The globin imbalance β-thalassemia major causes hemolysis ineffective erythropoiesis which result...

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...

background: the double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. in addion, definite characterizaon of co-inheritance of α- and β-thalassemia heterozygous carriers may change the process of genec counseling. materials and methods: an iranian couple with low hematological indices was analyzed for α-globin gene deleons using mulplex g...

BACKGROUND β-thalassemia is the most common hereditary disease in Iran and more than 2 million carriers of the β-thalassemia mutant gene are living in this country. OBJECTIVE To determine pregnancy outcome of women with β-thalassemia minor. MATERIALS AND METHODS In this retrospective, case-control study in two universities affiliated hospitals in Shiraz, all pregnancies occurred between 200...

Thalassemia and hemoglobin E (Hb E) are common in Thailand. Individuals with thalassemia trait usually have a normal hemoglobin concentration or mild anemia. Therefore, thalassemic individuals who have minimum acceptable Hb level may be accepted as blood donors. This study was aimed at determining the frequency of α-thalassemia 1 trait, β-thalassemia trait, and Hb E-related syndromes in Souther...