Hi doctor,
One of my daughters has got beta thalassemia major and G6PD deficiency. Is there any treatment for her? Please advice.
Hello,
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- Beta thalassemia major includes a hereditary disorder and is due to genetic deficiency of beta globin chains of hemoglobin. It is transfusion dependent anemia.
- Management of beta thalassemia major includes
- Chronic transfusion to maintain hemoglobin at the range of 9-10 gm/dL.
- Iron chelation therapy to avoid iron overload.
- Surgical splenectomy to decrease number of transfusions but risky.
- Cholecystectomy for gallbladder stones.
- The above therapy is for symptomatic treatment only and not definitive.
- Long-term cure is possible by allogenic bone marrow transplantation with HLA - human leukocyte antigen match individual.
- With regard to G6PD - glucose-6-phosphatase dehydrogenase deficiency, prevention of oxidizing drugs, fava beans is that which is required.
- G6PD deficiency is very much rare in females as it is X-linked recessive. If it is so you should also be having the same. As it is asymptomatic usually neglected.
- If your daughter has G6PD deficiency disorder your wife should be a carrier and you should be evaluated with quantitative assay for G6PD enzyme analysis as the same that is avoidance of oxidizing drugs is needed for you too.
For further information consult an internal medicine physician online -->https://www.icliniq.com/ask-a-doctor-online/internal-medicine-physician
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