Article
Clinical, hematological, and molecular features in Sicilians with Hb S-beta-thalassemia.
American journal of hematology - 1 Dec 1992
Schiliro G, Samperi P, Testa R, Gupta R B, Gu L H, Huisman T H
Abstract excerpt
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)...
Topics
- Alleles
- Ethnicity
- Female
- Fetal Hemoglobin
- Haplotypes
- Hemoglobin A
- Hemoglobin, Sickle
- Heterozygote
- Humans
- Male
- Mutation
- Sicily