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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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My Realtive Has The Thalassemia Major, Kindly Advice Me On This

Sir one of my realtive has the thalassemia major so i want to get the information about this and ask for bmt
Sat, 22 Oct 2011
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Critical Care Specialist 's  Response
Hello lucky
Thank you so much for giving opportunity to serve.
I Understand that your relative has Thalassemia major and you wanna know about it and also whether you have any symptoms of the disease.
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin.
Two main types of the thalassemia are
1) Alpha thalassemia
2) Beta thalassemia
Two main forms of thalassemia
1) Thalassemia major
2) Thalassemia minor
If you inherit defective genes from both the parents, then you'll have thalassemia major. If you receive defective gene from one parent then you will have thalassemia minor.
Symptoms
Thalassemia major patients will present with symptoms as
Easy fatigability
Shortness of breath
Deformity of facial bones
Yellowish discoloration of eyes and skin
Patient will also have an enlarged spleen in the right upper quadrant of abdomen.
Whereas thalassemia minor patient most of the time will be normal
Diagnosis
Disease can be diagnosed with help of few lab test. Like CBC, peripheral blood smear, RBC indices, H B electrophoresis.
Treatment
Treatment of thalassemia major includes multiple blood transfusion and folic acid supplementation.
Please feel free to ask any further question
thank you
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My Realtive Has The Thalassemia Major, Kindly Advice Me On This

Hello lucky Thank you so much for giving opportunity to serve. I Understand that your relative has Thalassemia major and you wanna know about it and also whether you have any symptoms of the disease. Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin. Two main types of the thalassemia are 1) Alpha thalassemia 2) Beta thalassemia Two main forms of thalassemia 1) Thalassemia major 2) Thalassemia minor If you inherit defective genes from both the parents, then you ll have thalassemia major. If you receive defective gene from one parent then you will have thalassemia minor. Symptoms Thalassemia major patients will present with symptoms as Easy fatigability Shortness of breath Deformity of facial bones Yellowish discoloration of eyes and skin Patient will also have an enlarged spleen in the right upper quadrant of abdomen. Whereas thalassemia minor patient most of the time will be normal Diagnosis Disease can be diagnosed with help of few lab test. Like CBC, peripheral blood smear, RBC indices, H B electrophoresis. Treatment Treatment of thalassemia major includes multiple blood transfusion and folic acid supplementation. Please feel free to ask any further question thank you