Thalassemia is an inherited genetic disorder of the blood. In medical terms, it is characterized by the absence of one of the globin chains of hemoglobin or the presence of faulty globin chain. The resultant RBCs are thin, fragile and carry less hemoglobin as compared to the RBCs of a healthy person. In simple terms, thalassemia affects the hemoglobin present in blood and may also lead to anemia.
Hemoglobin is oxygen carrier protein present in RBCs. Thalassemia leads to less oxygen supply to body cells causing fatigue, tiredness and breathlessness in patients. The defective gene causes abnormal production of proteins.
According to the type of the globin chain affected, thalassemia can be categorized as alpha and beta thalassemia. Individuals with alpha thalassemia have a faulty or lesser amount of alpha chains while the one with beta thalassemia has a lower amount of beta globin chain.
Thalassemia poses risk for heart, liver and hormone secreting glands due to iron overload. It also makes the patients prone to other infections, enlargement of spleen and disorders of the cardiovascular system.
- Impaired growth and development
- Swelling in abdomen
- Presence of dark coloured urine
- Pale Skin
- Deformities of bones of the face.
Diagnosis And Treatment
Doctor may recommend certain blood tests and DNA analysis to diagnose thalassemia. Treatment of thalassemia includes blood transfusion in severe cases so as to ensure a regular supply of oxygen and nutrients to body cells. Minor thalassemia is treated with a dosage of vitamin B to treat anemia.