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Clinical, hematological, and molecular features in sicilians with Hb S-β-thalassemia

✍ Scribed by G. Schiliro'; P. Samperi; R. Testa; R. B. Gupta; L.-H. Gu; T. H. J. Huisman

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
546 KB
Volume
41
Category
Article
ISSN
0361-8609

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✦ Synopsis

The clinical, hematological, and molecular features of 81 patients with Hb S-p-thalassemia and relatives from 76 unrelated families are reported. We analyzed the p-thalassemia mutations and the ps haplotypes in all patients and detected 6 different p-thalassemia alleles: codon 39 (C-tT) (39 cases), IVS-1-1 (G+A) (12 cases), IVS-11-1 (GcA) (4 cases), IVS-1-6 (TtC) (6 cases), IVS-1-110 (G+A) (14 cases), and IVS-11-745 (G-4) (6 cases). Eighty patients had haplotype #19 or the Benin type and one had haplotype #17 or the Cameroon type. The type of p-thalassemia allele had the greatest influence on the phenotypic expression; this was observed for patients with Hb S-pthalassemia and for simple p-thalassemia heterozygotes. The mild IVS-1-6 (T+C) mutation produced borderline abnormal erythrocytic indices and Hb A , levels in heterozygotes.

Overall, there was a milder expression in psp+ patients (only 7.7% presented severe disease) than in those with the psp" condition (22.6% had the severe form of the disease).

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