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Clinical, hematological, and molecular features in sicilians with Hb S‐β‐thalassemia
Author(s) -
Schiliro' G.,
Samperi P.,
Testa R.,
Gupta R. B.,
Gu L.H.,
Huisman T. H. J.
Publication year - 1992
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830410408
Subject(s) - thalassemia , haplotype , compound heterozygosity , allele , hemoglobinopathy , heterozygote advantage , medicine , gastroenterology , disease , genetics , biology , gene
The clinical, hematological, and molecular features of 81 patients with Hb S‐β‐thalassemia and relatives from 76 unrelated families are reported. We analyzed the β‐thalassemia mutations and the β S haplotypes in all patients and detected 6 different β‐thalassemia alleles: codon 39 (C→T) (39 cases), IVS‐I‐1 (G→A) (12 cases), IVS‐II‐1 (G→A) (4 cases), IVS‐l‐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 β‐thalassemia allele had the greatest influence on the phenotypic expression; this was observed for patients with Hb S‐β‐thalassemia and for simple β‐thalassemia heterozygotes. The mild IVS‐I‐6 (T→C) mutation produced borderline abnormal erythrocytic indices and Hb A 2 levels in heterozygotes. Overall, there was a milder expression in β S β + patients (only 7.7% presented severe disease) than in those with the β S β° condition (22.6% had the severe form of the disease). © 1992 Wiley‐Liss, Inc.