Diseases Beta Thalessemia

Beta Thalessemia

It’s a common blood disorder caused by the deficiency of hemoglobin. Hemoglobin is protein which carries oxygen throughout the body. Children suffering with this will have to perform blood transfusion all the time. People suffering with this have risk of developing blood clots. It is mush common among Mediterranean people in countries like North Africa, the Middle East, India, Central Asia, and Southeast Asia.

Beta Thalessemia is classified in two groups depending upon its severity, namely major and minor. Major is more server and dangerous.

Causes :
• Majorly, causes are genetic mutations.
• Some mutations in the HBB prevent the production of any betaglobin. This is called beta zero Thalessemia.
• Some mutations cause smaller production of beta globin. This reduction is called beta plus Thalessemia.
• People with both the cases have been diagnosed to have Beta Thalessemia major and intermediate.

Symptoms :
This is a symptomatic disease and symptoms are visible in early life, but not before the baby is six months old.
1. Severe anemia.
2. Poor growth.
3. Skeletal abnormalities.
4. Growth delay and poor feeding
5. Fatigue
6. Weakness
7. Shortness of breath
8. A yellow discoloration of the skin (jaundice)

Diagnosis of Thalassemia major is confirmed by Hemoglobin electrophoresis with an increase in total hemoglobin, and analysis of lymphocyte DNA.

Hemoglobin electrophoresis will generally show:
• HbA decreased
• HbA2 increased
• HbF slightly increased or normal
• A complete blood count will provide information about the hemoglobin and various blood cell levels.
• Thalassemia minor is confirmed by these values from a complete blood count
• MVC (mean corpuscular volume) – slightly decreased
• MCH (mean corpuscular hemoglobin) is decreased.
• Serum iron levels when tested help in ruling out anemia due to iron deficiency.
• Blood tests of family members for family genetic studies help identifying possible carriers and sufferers.
• Prenatal checking of blood also helps in knowing whether the unborn child has Thalassemia.

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