Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary haemoglobin disorders (E-beta Thalassaemia & Thalassaemia) are inherited as recessive disorders so that the heterozygote subjects are generally healthy. They commonly present with progressive pallor, thalassaemic facies, splenohepatomegaly & growth retardation. Diagnosis of carriers & patients are usually confirmed by haemoglobin electrophoresis. Transfusion-chelation therapy is usually employed for their treatment. Allogenic bone marrow transplantation is the only definite cure. Gene therapy remains to be the major challenging goal of future curative therapy. During the last 10 years wit medical advances, the number of pregnancies in thalassaemia is increasing. Normal pregnancy can be maintained with regular packed blood cells transfusion given carefully. In Bangladesh, HHD can be prevented by I. carrier identification and marriage counseling, II. passing and enforcing laws against marriage between two carriers, III. introducing thalassaemia in school curriculum and IV. creating public awareness.
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PMID:Updating of hereditary haemoglobin disorders. 1214 99