Abstract

GENETIC MUTATIONS OF BETA THALASSEMIA IN MIDDLE EAST COUNTRIES

Hassan Hammoud, Ricardos Ghanem, Rony Abdalla, Pierre Semaan, Joëlle Azzi, Edwin Parra Prada and Khodor Haidar Hassan*

ABSTRACT

Thalassemia is a type of hemolytic anemia in which appears hemoglobin disorders depending on the location of genetic mutation either in the gene responsible of producing alphaglobin or betaglobin so 2 types of thalassemia were recognized as alpha or beta thalassemia and 3 subtypes of beta thalassemia were recognized: thalassemia minor, thalassemia intermedia and thalassemia major which is the most severe type of beta thalassemia affecting the patient where there is severe decrease in hemoglobin level in the blood that requires periodic blood transfusion every 3-4 weeks to preserve sufficient hemoglobin level in blood. It is a strict inherited disease that runs in genes from parents to children and if one of the parents wasn’t a carrier there will be no chances of having a thalassemic child All carries must have a genetic testing for thalassemia of their partners before marriage. 0.13% is the chance for the meeting of 2 carriers as couple. The study showed 4 main genetic mutations in Beirut and its surrounding countries responsible of thalassemia, the results were as follow: 40 patients having the mutation IVS-I-110 (G>>A), 30 patients having the mutation IVS-I-1 (G>>A), 20 patients having the mutation 25bp del and 10 patients having the mutation IVS1-6 (T>>C).

Keywords: .