Article
Role of polymorphic sequences 5' to the G(gamma) gene and 5' to the beta gene on the homozygous beta thalassemic phenotype.
Hemoglobin - 1 Aug 2003
Ferrara Mara, Matarese Sofia M R, Francese Matteo, Borrelli Barbara, Perrotta Angelo, Meo Anna, La Rosa Maria A, Esposito Luigi
Abstract excerpt
Sixty-seven homozygous male and female thalassemic patients with different phenotypes, aged between 8 and 33 years, were divided into three groups, according to the severity of their beta-thalassemia (thal) mutations. We investigated whether some co-inherited genetic factors could influence the phenotype. Patients with milder beta-thal defects, homozygotes or compound heterozygotes for the IVS-I-6 (T-->C) or -87...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Female
- Fetal Hemoglobin
- Globins
- Homozygote
- Humans
- Male
- Phenotype
- Point Mutation