4. A family has two children, one with a mild case of thalassemia, and a second

Question

4. A family has two children, one with a mild case of thalassemia, and a second with severe case of thalassemia, requiring frequent blood transfusions as part treatment plan. One parent is of Mediterranean descent, the other descent. Neither parent exhibits clinical signs of thalassemia. Both children expre 20% of the expected level of ß-globin: the mo normal levels of a-globin, whereas the less severe 50% of the globin expression less severely affected? is of Asian ss re severely affected child expresses ly affected child only expresses normal levels of a -globin. Why is the child who has a deficiency in a- haiassemia is caused by a mutation in the a gene, and the more severely affected child expresses more of it. The less severely affected child must be synthesizing the Z gene to make up for the deficiency in a a chain synthesis. The more severely affected child also has HPFH. The more severely affected child produces more inactive globin tetramers than the less severely affected child Thalassemia is caused by an iron deficiency, and when the child is synthesizing normal levels of a -globin there is insufficient iron to populate all of the heme molecules synthesized. (C) (D) (E)

Explanation / Answer

1Thalassemia is a blood disorder which is hereditary in nature and it hinders the production of haemogloblin and result in the shortage of RBCs .There are mainly two types of thalassemia they are alpha thalassemia and beta thalassemia.Beta thalassemia is caused by mutations in the HBB gene while alpha is caused by mutations in the HBA1 and HBA2 genes.That is why the child who is deficient in alpha thalassemia is caused by a mutation in the gene.

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