Fairouz K. Al-Showafi
Department of Biochemistry & Molecular biology
Introduction:
Thalassemia Major is an inherited hemoglobin disorder, microcytic anemia and the most prevalent type of thalassemia as it is common in certain populations.
Thalassaemia major gene occur in Middle Eastern countries with varying frequency.1 Yemen has numerous patients affected with this disease, and the number of patients is increasing.2
The Yemen Society for Thalassemia and Genetic Blood Disorders was founded in 2000, the association has recorded 719 patients suffering from thalassemia and other hereditary blood diseases have arrived hospital in different Yemeni governorate from 2000 to April 2008. About 115 of these cases (16%) registered were diagnosed with thalassemia,2 in addition there was an initial pilot study
which showed that features suggestive of β-thalassemia (β-thal) were represent (4.43%) and features suggestive of -thal trait were found representing (8.6%) of patients attending clinics in Sana`a City,3 as consanguineous marriage and marriage between members of the same tribe are common in Yemen3. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on short arm of chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Ineffective erythropoiesis, hemolysis, and increased red blood cell turnover ensue.4,5 Blood transfusion is critical for survival in these patients. Over the course of the past three decades, hyper transfusion therapy in these patients has shown significant increase in life expectancy and quality of life.
