Molecular Basis for a-Thalassemia Associated With the Structural Mutant Hemoglobin Suan-Dok
نویسنده
چکیده
Hemoglobin (Hb) Suan-Dok (a1osAr9) is a rare a-globin structural mutation that is linked to an a-thalassemia (a-thal) determinant. When inherited in trans to an a-thal-I mutation (-1, it results in Hb H disease associated with low levels (9%) of the Suan-Dok Hb. The nature of the thalassemic defect associated with the as’ mutation has been investigated by structural and functional studies. Sequence analysis of the cloned Suan-Dok allele showed a missense mutation (T G) at codon 109 in an otherwise normal a2-globin gene. When the a2SD-globin gene was
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