Article
First Spanish case of thalassemia major due to a compound heterozygosity for the IVS-II-848 (C --> A) and codon 39 (C --> T) mutations of the beta-globin gene.
Hemoglobin - 1 Jan 2006
Ropero Paloma, Villegas Ana, Muñoz Juan, Briceño Olga, Mora Asunción, Salvador María, Polo Marta, González Fernando A
Abstract excerpt
This report describes the first case in Spain of a severe form of beta-thalassemia (thal) due to a compound heterozygosity for the IVS-II-848 (C --> A) and the nonsense codon 39 (C --> T) mutations. Five members of a family from Cadiz (southern Spain) were studied. The proband was an 8-year-old g...
Topics
- Adolescent
- Adult
- Alleles
- Child
- Codon, Nonsense
- Family Health
- Female
- Globins
- Heterozygote
- Humans
- Male
- Mutation, Missense
- Point Mutation
- Polymerase Chain Reaction
- Siblings
- Spain
- beta-Thalassemia