Article
Hb Extremadura [β64(E8)Gly→Ser;β133(H11)Val→Leu]: a new molecular analysis.
Hemoglobin - 1 Jan 2011
Ropero Paloma, Martín-Nuñez Guillermo, González F A, Villegas Ana, de la Fuente-Gonzalo Félix, Martínez-Nieto Jorge, Vinuesa Lara, Díaz-Mediavilla Joaquín
Abstract excerpt
Unstable hemoglobin (Hb) variants account for 9.5% of structural hemoglobinopathies. The majority of these unstable variants are the result of gene point mutations resulting in the substitution of a single amino acid by another. The presence of two mutations in the same allele is infrequent: of the 781 variants of the β-globin cluster described, only 32 are due to two point mutations (4.1%). Hb Extremadura is a...
Topics
- Adult
- Alleles
- Chromatography, High Pressure Liquid
- DNA Mutational Analysis
- Female
- Hemoglobins, Abnormal
- Humans
- Mutation, Missense
- beta-Globins