Question

Mr. r's beta-thalassemia is causing him to destroy his red blood cells too rapidly. let's review the red blood cell life cycle and how they are destroyed and recycled.

Answer 1

Destruction and recycling of RBC:

Beta thalassemia is a genetic disease caused by the defective gene causing beta chain of haemoglobin present in RBCs. This defective gene leads to production of defective beta chains, which leads to production of faulty haemoglobin.

These defective haemoglobin present in the RBCs make them prone to destruction in the spleen and liver. This causes increased bilirubin and biliverdin in blood, as well as hepatosplenomegaly.

As a compensation, the newer RBCs that are produced have that defective beta chain haemoglobin again, and the cycle continues. Blood transfusion is only supportive treatment.

Answer 2

Beta thalassemia is an inherited disorder of blood that has abnormally low levels in hemoglobin unit caused by mutation of beta-chain genes of chromosome 11. Mr. R's red blood cells (RBCs) are produced by the bone marrow. During the 120 days life span of RBCs, various chemical and metabolic processes are occurring causing its deformity. RBCs are then phagocytized and they release hemoglobin. Hemoglobin are hydrolyzed and broken down into heme and globin chains. Globin chains should be broken down to amino acids and released into amino acid pool while heme is broken down further into iron and protoporphyrin with CO2. In cases of thalassemia, further processes can't be synthesized because of lack of beta globin chains.