background: many efforts have been undertaken until now to find an alternative approach to packed red cell tranfusion in major β-thalassemia. augmentation of fetal hemoglobin by hydroxyurea has proved to be less effective in this condition as compared to sickle cell anemia, probably due to molecular heterogeneity of the former disease. hydroxyurea efficacy and its relation to xmn1 polymorphism ...

Objectives. Check with hematological data that the diagnosis and clinical grade of β-thalassemia intermedia can be established when a triplication genes alpha (αααanti 3.7) heterozygous are coherent. Methods. Retrospective study in which 73 patients Caucasian origin participated, who simultaneously showed tripling or quadrupling α β-thalassemia. Screening for most frequent α-thalassemia mutatio...

background: beta thalassemia gene mutations are among common mutations in southwest iran. however, hemoglobin e (hb e) and hb e/β⁰ thalassemia account for a small number of hemoglobinopathies in iran. this is the first study to directly address the existence of hb e and consequently hb e/β⁰ thalassemia in southwest iran. methods: this retrospective study discovered seven cases of hb e/β⁰ thalas...

This is a report of couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male female subjects β α-thalassemia carriers, respectively. Multiplex-Gap-PCR Sanger sequencing techniques used identification mutations β-globin genes. The DNA test showed presence c.315 + 1 G > A mutati...

Thalassemia, an inherited quantitative globin disorder, consists of two types, α– and β–thalassemia. β–thalassemia is a heterogeneous disease that can be asymptomatic, mild, or even severe. Considerable research has focused on investigating its underlying etiology. These studies found DNA hypomethylation in the β–globin gene cluster significantly related to fetal hemoglobin (HbF) elevation. His...

objective: β-thalassemia is caused by absence or reduction of β-globin chain synthesis. one of the effective therapeutic methods for this disease can be gene therapy by viral vectors. the capacity of lentiviral vectors is approximately 8 kb, we designed a 6 kb construct containing mini lcr and β-globin gene instead of lcr region. the aim of this study is to make a recombinant lentiviruses conta...

background: thalassemia syndromes are the most prevalent single gene disorders in iran. this study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or xmn1 snp on disease phenotype in a large cohort of iranian patients. subjects and methods: in total, 433 patients were clinically classified into β-thalassemia major ...

Hemoglobin E (HbE) is an extremely common structural hemoglobin variant that occurs at high frequencies throughout many Asian countries. It is a β-hemoglobin variant, which is produced at a slightly reduced rate and hence has the phenotype of a mild form of β thalassemia. Its interactions with different forms of α thalassemia result in a wide variety of clinical disorders, whereas its coinherit...

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...

background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic dis­or­ders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagno­sis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...