Serjeant Graham R, Serjeant Beryl E, Fraser Raphael A, Hambleton Ian R, Higgs Douglas R, Kulozik Andreas E, Donaldson Alan
Medical Research Council Laboratories, Kingston, Jamaica.
Hemoglobin. 2011;35(1):1-12. doi: 10.3109/03630269.2010.546306.
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 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-β(0)-thal mutations, but among the three mutations causing Hb S-β(+)-thal type III, levels of Hb A(2), Hb F, hemoglobin (Hb), MCV and MCH were highest in the -88 and lowest in the polyA mutations. Clinically, Hb S-β(0)-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.
本文介绍了261例已鉴定出β-地中海贫血（β-地贫）突变患者的临床和血液学特征。导致Hb S [β6(A3)Glu→Val]-β(0)-地贫的突变中，IVS-II-849 (A>G)占44%，移码密码子（FSC）6 (-A)占14%，Hb Monroe [β30(B12)Arg→Thr]占14%，IVS-II-1 (G>A)占10%。导致Hb S-β(+)-地贫且Hb A含量为14 - 25%（III型）的突变中，-29 (A>G)突变占60%，-88 (C>T)占22%，聚腺苷酸化信号位点（polyA）(T>C)突变占14%；而在Hb S-β(+)-地贫且Hb A含量为1 - 7%（I型）中，均有IVS-I-5 (G>C)突变。血液学方面，四种Hb S-β(0)-地贫突变之间仅有微小差异，但在导致Hb S-β(+)-地贫III型的三种突变中，Hb A(2)、Hb F、血红蛋白（Hb）、平均红细胞体积（MCV）和平均红细胞血红蛋白含量（MCH）水平在-88突变中最高，在polyA突变中最低。临床上，Hb S-β(0)-地贫和Hb S-β(+)-地贫I型通常病情严重，而具有-88突变 Hb S-β(+)-地贫III型疾病比由polyA突变引起的病情较轻。
