Article
A mild type of Hb S-beta(+)-thalassemia [-92(C-->T)] in a Sicilian family.
American journal of hematology - 1 Feb 1993
Divoky V, Baysal E, Schiliro G, Dibenedetto S P, Huisman T H
Abstract excerpt
Hematological data are presented for an adult Sicilian patient with a mild Hb S-beta(+)-thalassemia caused by a C-->T mutation at position -92 of the beta promoter. This mutation was identified by sequencing of amplified DNA and was confirmed by dot-blot analysis with specific probes. A comparison of levels of Hb S and Hb A in Hb S-beta-thalassemia patients with different beta-thalassemia alleles showed great...
Topics
- Adult
- Base Sequence
- Child
- DNA
- Female
- Gene Amplification
- Hemoglobin A
- Hemoglobin, Sickle
- Humans
- Male
- Mutation
- beta-Thalassemia
