Article
Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype.
American journal of hematology - 1 Jan 1997
Rund D, Oron-Karni V, Filon D, Goldfarb A, Rachmilewitz E, Oppenheim A
Abstract excerpt
Molecular analysis was performed on 95 Israeli patients with thalassemia intermedia, representing 60 families of Arab (Moslem and Christian), Jewish, Druze, and Samaritan origin. There was a wide range of phenotypic severity, with baseline hemoglobin levels ranging from 5.5 to 10.7. Eighteen thalassemia mutations were found (29 genotypes), which were subdivided into groups, according to the severity of mutations....
Topics
- Alleles
- Female
- Fetal Hemoglobin
- Gene Expression
- Genetic Counseling
- Globins
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Israel
- Male