Thalassemia is an inherited blood disorder affecting the hemoglobin gene . It is a hemoglobinopathy where there is decreased production of alpha or beta hemoglobin leading to breakdown of red blood cells and anemia. Hemoglobin is an oxygen carrying component of the red blood cells. Hemoglobin has two proteins- alpha and beta. So in Thalassemia, where these alpha or beta proteins are not produced enough, red blood cells are not stable and they break down easily causing anemia. So in Thalassemia the affected individual will have anemia at an early age and have less oxygen in the blood and tissues. Thalassemia Doctor in Delhi.
As thalassemia is an inherited disease, at least one of the parents must be a carrier. It is caused by a either a genetic mutation (change in the gene) or deletion of the specific key gene.
There are two types Thalassemia depending on the involvement of affected gene.
There are two types of Thalassemia depending on the number of mutated genes and severity.
As described, it is an inherited disorder. It is inherited as autosomal recessive pattern, that means both the parents have to be a carrier of the abnormal gene which is passed on to the affected child. There are more than 200 genetic mutations which are identified as a cause for this disease. .
Any child presenting with severe anemia at an early age, should be investigated to rule out thalassemia major. On Physical Examination, child will look pale, there may be yellowish discoloration of the eyes, spleen will be enlarged.
There are two main types of treatment –
Till date the best treatment option for Thalassemia major patient is Bone marrow transplantation. Results are much better if it is done at an early age, specially before 7 years of age