Detection of β-thalassemia Carriers Among Close Relatives of β-thalassemia Children Attending Assiut University Children Hospital

The term "thalassemia" is derived from the Greek words "Thalassa"(sea) and "Haema" (blood) and refers to disorder associated with defective synthesis of α or β-globin subunits of haemoglobin HbA

There are two main types of thalassemia:

α-thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha globin chains. Alpha-thalassemia is prevalent in tropical and subtropical world regions where malaria was and still is epidemic, but as a consequence of the recent massive population migrations, alpha-thalassemia has become a relatively common clinical problem in North America, North Europe, and Australia

β-thalassemia syndromes are a group of hereditary blood disorders characterized by reduced or absent beta globin chain synthesis, resulting in reduced Hb in red blood cells (RBC), decreased RBC production and anemia. Most thalassemias are inherited as recessive traits. The phenotypes of homozygous or genetic heterozygous compound β-thalassemias include thalassemia major and thalassemia intermedia. Individuals with thalassemia major usually come for medical attention within the first two years of life and require regular RBC transfusions to survive. Thalassemia intermedia include patients who present later and do not require regular transfusion. Except in the rare dominant forms, heterozygous β-thalassemia results in the clinically silent carrier state. HbE/ β-thalassemia and HbC/ β-thalassemia exhibit a great range in terms of diversity of phenotypes and spectrum of severity. People who are carriers of the disease received variant genes from one parent and normal gene from the other parent

Thalassemia is widespread throughout ,they are more prevalent in people living in South-East Asia, South Asia, Middle East, and Mediterranean regions