Article
Hb Bronte or alpha93(FG5)Val-->Gly: a new unstable variant of the alpha2-globin gene, associated with a mild alpha(+)-thalassemia phenotype.
Hemoglobin - 1 Aug 2003
Lacerra Giuseppina, Testa Rosario, De Angioletti Maria, Schilirò Gino, Carestia Clementina
Abstract excerpt
We report a new unstable variant identified in three carriers of a family from East Sicily; it was named Hb Bronte after the place from which the family originated. DNA sequencing from nucleotides -181 to +894 (alpha1) and to +884 (alpha2) revealed a GTG-->GGG substitution at codon 93 of the alpha2-globin gene. The MCV and MCH values were at the lower end of the normal range in the carriers. On cation exchange...
Topics
- Child
- Family Health
- Genetic Variation
- Globins
- Hemoglobin A
- Hemoglobins, Abnormal
- Heterozygote
- Humans
- Male
- Mutation, Missense
- Pedigree