Introduction: Beta-thalassemia is characterized by absence or reduced synthesis of the β-globin. Carriers of β-thalassemia, typically have microcytic hypochromic anemia and elevated hemoglobin HbA2 and normal HbF level. On the other hand carriers of severe alpha-thalassemia also have similar CBC parameters to that of β-thalassemia with normal HbA2 level. Co-presence of mutations in the β-globin...

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...

Background: Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues. In this study, we describe the first report of this variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly. Methods: A six-year-old boy from Khuzestan Province and his par...

Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the fr...

Background: In the previous study, we have shown that the presence of A allele at position -588 in Aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Aγ-globin gene expression to ameliorate the severity of the ...

Abstract   Introduction: Hemoglobin Constant Spring (Hb CS),  a abnormal Hb characterized by elongated α-globin chain resulting from mutations of the termination codon in the α2 - globin gene , is the most common nondelitional  α-thalassemic mutation and is an important cause of HbH like disease in Southeast Asia. Case Report: A 9- years-old female with immune hemolytic anemia and splenomegally...

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...

Sickle cell disease is characterized by a very heterogeneous clinical course among patients with the same mutations for sickle hemoglobin (HbS). anemia (SCA) hereditary hemoglobinopathy caused homozygosity of point mutation in beta-globin gene, which leads to substitution glutamic acid valine sixth position.

Here we report the first case of unstable hemoglobin Hakkari identified in Russia to our knowledge. It was diagnosed a two-year-old Russian boy with severe transfusion-dependent anemia caused by de novo mutation b-globin gene [b31(B13) Leu→Arg, HBB: c.95T>G]. Routine diagnostic methods were not effective, and his diagnosis established until sequencing globin performed. A comparative analysis...

background: in the previous study, we have shown that the presence of a allele at position -588 in aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. therefore, we decided to investigate whether this allele (a allele at -588) could result in an increase in aγ-globin gene expression to ameliorate the severity of the ...