Schiliro G, Samperi P, Testa R, Gupta R B, Gu L H, Huisman T H
Department of Pediatric Hematology, University of Catania, Sicily, Italy.
Am J Hematol. 1992 Dec;41(4):264-9. doi: 10.1002/ajh.2830410408.
The clinical, hematological, and molecular features of 81 patients with Hb S-beta-thalassemia and relatives from 76 unrelated families are reported. We analyzed the beta-thalassemia mutations and the beta S haplotypes in all patients and detected 6 different beta-thalassemia alleles: codon 39 (C-->T) (39 cases), IVS-I-1 (G-->A) (12 cases), IVS-II-1 (G-->A) (4 cases), IVS-I-6 (T-->C) (6 cases), IVS-I-110 (G-->A) (14 cases), and IVS-II-745 (G-->C) (6 cases). Eighty patients had haplotype #19 or the Benin type and one had haplotype #17 or the Cameroon type. The type of beta-thalassemia allele had the greatest influence on the phenotypic expression; this was observed for patients with Hb S-beta-thalassemia and for simple beta-thalassemia heterozygotes. The mild IVS-I-6 (T-->C) mutation produced borderline abnormal erythrocytic indices and Hb A2 levels in heterozygotes. Overall, there was a milder expression in beta(S) beta(+) patients (only 7.7% presented severe disease) than in those with the beta(S)beta(0) condition (22.6% had the severe form of the disease).
报告了81例血红蛋白S-β地中海贫血患者及其来自76个无关家庭的亲属的临床、血液学和分子特征。我们分析了所有患者的β地中海贫血突变和βS单倍型，检测到6种不同的β地中海贫血等位基因：密码子39（C→T）（39例）、IVS-I-1（G→A）（12例）、IVS-II-1（G→A）（4例）、IVS-I-6（T→C）（6例）、IVS-I-110（G→A）（14例）和IVS-II-745（G→C）（6例）。80例患者具有单倍型#19或贝宁型，1例具有单倍型#17或喀麦隆型。β地中海贫血等位基因类型对表型表达影响最大；在血红蛋白S-β地中海贫血患者和单纯β地中海贫血杂合子中均观察到这一点。轻度的IVS-I-6（T→C）突变在杂合子中产生临界异常的红细胞指数和血红蛋白A2水平。总体而言，β（S）β（+）患者（仅7.7%表现为严重疾病）的表达比β（S）β（0）患者（22.6%患有严重疾病形式）更轻。
