PATHOLOGY

Detailed explanation-1: -Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB gene in each cell have variants.

Detailed explanation-2: -Thalassemias are caused by mutations in the (HBA1/HBA2) and globin (HBB) genes and are usually inherited in an autosomal recessive manner. The corresponding proteins form the adult hemoglobin molecule (HbA) which is a heterotetramer of two and two globin chains.

Detailed explanation-3: -An autosomal recessive disorder like thalassemia is caused by abnormalities in both members of a pair of genes. Both parents may carry a single dose of the gene on one chromosome but have a normal gene on the other chromosome, which prevents the appearance of the disease in the carrier parent.

Detailed explanation-4: -How thalassaemia is inherited. Genes come in pairs. You inherit 1 set from your mother and 1 set from your father. To be born with the main type of thalassaemia, beta thalassaemia, a child has to inherit a copy of the faulty beta thalassaemia gene from both of their parents.

Detailed explanation-5: -Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. Thalassemia is a treatable disorder that can be well-managed with blood transfusions and chelation therapy.