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Thalassemia is a genetic blood disorder in which the body makes inadequate or abnormal form of hemoglobin. Hemoglobin is a protein present in red blood cells responsible for carrying oxygen to all the other cells in the body. When thereÃƒÂ¢Ã¢â€šÂ¬Ã¢â€žÂ¢s less hemoglobin (anemia), red blood cells do not function properly and eventually results in disruption of the red blood cells. Inheriting a faulty thalassemia gene from both the parents, creates the trait for thalassemia and in major cases thereÃƒÂ¢Ã¢â€šÂ¬Ã¢â€žÂ¢s a need for blood transfusion.
It is caused by a variety of factors such as:
(i) Caused by the mutations in the gene responsible for the production of hemoglobin.
(ii) People with a family history of thalassemia.
(ii) Ethnicity of the people, most common in African Americans and in Southeast Asians.
Types of Thalassemia-
Hemoglobin, a protein which is made of two subunits- Alpha globin and Beta globin.
There are two forms of thalassemia-
- Alpha thalassemia- it occurs when the gene related to the alpha globin is mutated.
- Beta thalassemia- when gene associated with beta globin is mutated.
- Thalassemia minor- When the person inherits the faulty gene from only one parent. They are the carriers of thalassemia and do not show any symptoms.
- Thalassemia major- It is developed when the person inherits the faulty gene from both the parents. Beta thalassemia major is also known as the Cooley anemia.
Diagnosis and Treatment-
- Pale skin
- Dark urine
- Constant fatigue and weakness
- Enlarged Spleen
- Abdominal pain and swelling
- Bone deformities
- Delayed growth and development
- Heart problems such as abnormal heart rhythm (arrhythmia) associated with severe thalassemia.
Prevention and Control-
- Blood examination
- Careful blood transfusions in case of thalassemia major.
- Undergo thalassemia screening test (Blood HPLC/thalassemia test) to check the chance of being a thalassemia carrier.
- Medications and health supplements.
- Bone marrow transplantation in major cases.
- Routine blood tests.
- Periodic consultation with the doctor.
- Maintain healthy lifestyle and proper balanced diet.
- Regular exercise
- Consult a genetic counselor to determine the risk of passing thalassemia to your children.
- Take prescribed medicines.