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.
Thalassemia major patients will present with symptoms as
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
Disease can be diagnosed with help of few lab test. Like CBC, peripheral blood smear, RBC indices, H B electrophoresis
Treatment of thalassemia major includes multiple blood transfusion
and folic acid supplementation.
Please feel free to ask any further question