Article
Hb S-β-thalassemia: molecular, hematological and clinical comparisons.
Hemoglobin - 1 Jan 2011
Serjeant Graham R, Serjeant Beryl E, Fraser Raphael A, Hambleton Ian R, Higgs Douglas R, Kulozik Andreas E, Donaldson Alan
Abstract excerpt
Clinical and hematological features are presented for 261 patients with identified β-thalassemia (β-thal) mutations. Mutations causing Hb S [β6(A3)Glu→Val]-β(0)-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...
Topics
- Adult
- Anemia, Sickle Cell
- Child
- Codon
- Fetal Hemoglobin
- Genetic Association Studies
- Hematologic Tests
- Hemoglobin A2
- Hemoglobins, Abnormal
- Humans
- Infant, Newborn