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Thalassemia is an inherited blood disorder of the red blood cells in the body. It is caused by gene defects in the DNA, which destroy red cells and affect hemoglobin production levels, leading to anemia (low hemoglobin levels). Hemoglobin is a protein in the blood which carries oxygen and lends the red color to the blood.
Alpha globin and Beta globin are the two subtypes of these proteins. The types and severity of thalassemia depend on the number of gene defects pertaining to the Alpha and Beta proteins.
India has the largest number of thalassemic children born annually (10,000-15,000). There are an estimated 5-30 percent thalassemic people in India, including mere trait carriers.
There are two major types of thalassemia: homozygous or heterozygous. Mildness or severity of the disorder primarily depends on the number of defective genes a person inherits in his DNA. Both types can manifest in two forms: thalassemia minor and thalassemia major.
Minor patients carry only the trait and thus are mostly asymptomatic. Those who have two defective genes have mild symptoms, while those with three have mild-to-severe symptoms. Those with four defective genes usually either die at birth or have a host of severe symptoms and need lifelong treatment to survive.
Management for patients who experience mild or no symptoms i.e., those who are carriers, need no treatment except regular and appropriate intake of folic acid.
For homozygous patients, repeated blood transfusions are needed, along with regular iron chelation therapy. Regular growth assessment and monitoring of a thalassemic child is needed.
In the long term, bone marrow transplant and stem cell therapy is being considered.
For children of parents with Thalassemia trait, IVF, gene therapy and genetic selection is being considered (only those sperm are chosen to fertilize the ovum which do not carry the thalassemia defective gene).
It is recommended that all pregnant females be screened for thalassemia. Genetic counselling and testing is advised for families, who are at high risk. Every couple must undergo genetic evaluation before marriage, as prevention is better than cure.