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Molecular Pathology of α‐Thalassemia
Author(s) -
KAN YUET
Publication year - 1985
Publication title -
annals of the new york academy of sciences
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1985.tb17172.x
Subject(s) - annals , library science , medicine , citation , medical genetics , cancer genetics , thalassemia , gerontology , family medicine , classics , history , genetics , biology , computer science , cancer , gene
The different classes of mutations found in the alpha- and beta-thalassemia syndromes are summarized in FIGURE 5. Mutations affecting almost every stage of globin gene expression have been described. The only lesion not yet characterized is one affecting enhancing sequences, although such sequences have not yet been identified in the globin gene system. The clinically important alpha-thalassemias are the deletion types, which occur with much higher frequency than the nondeletion lesions. In contrast, apart from one deletion beta-thalassemia lesion found in Pakistan, all the clinically significant beta-thalassemia lesions are not caused by gene deletion. The common beta-thalassemia lesions in the Mediterranean region and Asia are caused by defective mRNA synthesis, processing, or translation. Why deletion lesions predominate in the alpha-thalassemias and nondeletion ones in the beta-thalassemias remains an enigma.