Alpha thalassemia is due to ?
Ans. is 'a' i.e., Alpha chain deficiency Alpha-thalassemia People who do not produce enough alpha globin chain have alpha - thalassemia. Alpha globin chain is made by four genes, each gene contributes to 25% of the a-globin chains. The severity of a-thalassemia varies greatly depending on the number of a-globin genes affected - i) Silent carrier state Single a-globin gene is deleted. These individuals are completely asymptomatic. ii) a-thalassemia trait Two a-globin genes are deleted. These individuals are asymptomatic with some red cell abnormalities like b-thalassemia minor. iii) HbH disease Three genes of a-globin chain are deleted. With only one gene, the synthesis of a-chain is markedly reduced and tetramers of excess b-globin, called HbH, form. HbH has extremely high affinity for oxygen and therefore is not useful for oxygen exchange, leading to tissue hypoxia dispropoionate to the level of hemoglobin. Patients have moderate to severe anemia that may require occasional blood transfusion. iv) Hydrops fetalis There is deletion of all four a-globin genes. In the fetus, excess y-globin chains form tetramers, known as hemoglobin has. Hemolgobin ba has such a high affinity for oxygen that it delivers almost no oxygen to tissues. Most individuals die before or sholy after bih. In utero blood transfusion have allowed the bih of children with hydrops fetalis who then require life long blood transfusions.
Alpha chain deficiency
Alpha chain excess
Beta chain deficienc
Beta chain excess