Elucidating the spectrum of alpha thalassemia mutations in iran

Unlike β-thalassemia trait and iron deficiency, no simple biochemical test can detect α-thalassemia.There is a paucity of data on α and β - genotyping in Iran.Although iron deficiency is the other explanation for a low MCV or MCH, it is likely that this finding will point to thalassemia in regions of countries with at-risk ethnic populations.There are several causes of the anemia produced by different abnormal hemoglobins.The key to successful detection and characterization of the hemoglobinopathies, particularly the thalassemias, is the initial hematological data.

elucidating the spectrum of alpha thalassemia mutations in iran-47elucidating the spectrum of alpha thalassemia mutations in iran-80elucidating the spectrum of alpha thalassemia mutations in iran-85

Studies have revealed the presence of more than 47 different β-globin gene mutations responsible for β-Thalassemia in Iran.Alpha thalassemia (alpha-thal) is one of the most common hemoglobin (Hb) disorders in the world. The majority of alpha-thal mutations are deletions but point mutations are found as well.Since the Iranian population is a mixture of different ethnic groups, frequency and distribution of alpha-globin mutations in various regions of the country need to be clarified.Correspondence Fakher Rahim E-mail: [email protected]* Received for Publication: September 17, 2007 * Revision Accepted: November 3, 2007 Iranian population is a mixture of different ethnic groups, frequency and distribution of α-globin mutations in various regions of the country need to be clarified.In Iran, with a remarkable prevalence of α and β- globin mutation, the increased likelihood of co-inheritance of α- and β-thalassemia may result in a large variety of phenotypes. The gene frequency of β-thalassemia, however, is high and varies considerably from area to area, having its highest rate of more than 10% around the Caspian Sea and Persian Gulf.Cellulose acetate gel electrophoresis was performed for all patients and abnormal bands were identified by citrate agar gel electrophoresis and PCR based methods.

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