Thalassemia syndromes. Recent advances.
Laboratory and clinical investigators in the past several years have provided many advancements in the understanding of the thalassemia syndromes and in the care of affected patients. The diversity of genetic defects causing thalassemia has been extensively explored, with major benefits to our knowledge of normal globin gene function and of the consequences of specific mutations. In addition, the use of molecular biology methods in these studies has provided major advances in population genetics, gene transfer, and prenatal diagnosis of thalassemia. In the clinical area, guidelines for transfusion, splenectomy, prevention of postsplenectomy infection, and effective iron chelation have been considerably improved, and bone marrow transplantation is now available as an alternative means of treatment. Despite these advances, a great deal remains to be done in the areas of understanding the developmental regulation of globin gene expression, effective gene transfer, oral chelation therapy, safer blood products, and other important areas that will benefit patients afflicted with thalassemia.
Ohene-Frempong
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University of Pennsylvania School of Medicine, Philadelphia.
Rappaport
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Schwartz
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D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D005818:Genetic Engineering; D005914:Globins / Q000235:genetics; D006801:Humans; D011296:Prenatal Diagnosis; D013156:Splenectomy; D013789:Thalassemia / Q000235:genetics / Q000628:therapy; D065227:Transfusion Reaction
D005914:Globins