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Hb S-β-thalassemia: molecular, hematological and clinical comparisons

Clinical and hematological features are presented for 261 patients with identified β-thalassemia (β-thal) mutations. Mutations causing Hb S [β6(A3)Glu→Val]-β0-thal were IVS-II-849 (A>G) in 44%, frameshift codon (FSC) 6 (-A) in 14%, Hb Monroe [β30(B12)Arg→Thr] in 14%, and IVS-II-1 (G>A) in 10%....

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Main Authors: Serjeant, Graham R. (Author) , Serjeant, Beryl E. (Author) , Fraser, Raphael A. (Author) , Hambleton, Ian R. (Author) , Higgs, Douglas R. (Author) , Kulozik, Andreas (Author) , Donaldson, Alan (Author)
Format: Article (Journal)
Language:English
Published: 20 Jan. 2011
In: Hemoglobin
Year: 2011, Volume: 35, Issue: 1, Pages: 1-12
ISSN:1532-432X
DOI:10.3109/03630269.2010.546306
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3109/03630269.2010.546306
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Author Notes:Graham R. Serjeant, Beryl E. Serjeant, Raphael A. Fraser, Ian R. Hambleton, Douglas R. Higgs, Andreas E. Kulozik, Alan Donaldson
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Summary:Clinical and hematological features are presented for 261 patients with identified β-thalassemia (β-thal) mutations. Mutations causing Hb S [β6(A3)Glu→Val]-β0-thal were IVS-II-849 (A>G) in 44%, frameshift codon (FSC) 6 (-A) in 14%, Hb Monroe [β30(B12)Arg→Thr] in 14%, and IVS-II-1 (G>A) in 10%. Mutations causing Hb S-β+-thal with 14-25% Hb A (type III) were -29 (A>G) mutation in 60%, -88 (C>T) in 22% and the polyadenylation signal site (polyA) (T>C) mutation in 14%, and in Hb S-β+-thal with 1-7% Hb A (type I), all had the IVS-I-5 (G>C) mutation. Hematologically, only minor differences occurred between the four Hb S-β0-thal mutations, but among the three mutations causing Hb S-β+-thal type III, levels of Hb A2, Hb F, hemoglobin (Hb), MCV and MCH were highest in the -88 and lowest in the polyA mutations. Clinically, Hb S-β0-thal and Hb S-β+-thal type I were generally severe, and Hb S-β+-thal type III disease with the -88 mutation was milder than that caused by the polyA mutation.
Item Description:Gesehen am 23.11.2022
Physical Description:Online Resource
ISSN:1532-432X
DOI:10.3109/03630269.2010.546306

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