Hb S-β-thalassemia

• Verfasst von: Serjeant, Graham R. [VerfasserIn]
• Verfasst von: Serjeant, Beryl E. [VerfasserIn]
• Verfasst von: Fraser, Raphael A. [VerfasserIn]
• Verfasst von: Hambleton, Ian R. [VerfasserIn]
• Verfasst von: Higgs, Douglas R. [VerfasserIn]
• Verfasst von: Kulozik, Andreas [VerfasserIn]
• Verfasst von: Donaldson, Alan [VerfasserIn]
• Titel: Hb S-β-thalassemia
• Titelzusatz: molecular, hematological and clinical comparisons
• Verf.angabe: Graham R. Serjeant, Beryl E. Serjeant, Raphael A. Fraser, Ian R. Hambleton, Douglas R. Higgs, Andreas E. Kulozik, Alan Donaldson
• E-Jahr: 2011
• Jahr: 20 Jan. 2011
• Umfang: 12 S.
• Fussnoten: Gesehen am 23.11.2022
• Titel Quelle: Enthalten in: Hemoglobin
• Ort Quelle: Abingdon : Taylor & Francis Group, 1976
• Jahr Quelle: 2011
• Band/Heft Quelle: 35(2011), 1 vom: Jan., Seite 1-12
• ISSN Quelle: 1532-432X
• DOI: doi:10.3109/03630269.2010.546306
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Hb S-β+-thalassemia (β+-thal)
• Sach-SW: Hb S-β0-thalassemia (β0-thal)
• Sach-SW: Thalassemia mutations
• Sach-SW: β+-Thalassemia (β+-thal) trait
• Sach-SW: β0-Thalassemia (β0-thal) trait
• K10plus-PPN: 182329667X

Abstract

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.