Article
Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients.
American journal of hematology - 1 Dec 1993
Cürük M A, Dimovski A J, Baysal E, Gu L H, Kutlar F, Molchanova T P, Webber B B, Altay C, Gürgey A, Huisman T H
Abstract excerpt
We have identified a severely unstable hemoglobin variant through sequencing of amplified DNA involving the alpha 1-globin gene; the mutation is located in codon 59 (CCG CAG) and results in a Gly-->Asp replacement. This amino acid substitution concerns a glycine residue at an internal position in...
Topics
- Adult
- Amino Acid Sequence
- Aspartic Acid
- Base Sequence
- Child
- Child, Preschool
- Erythrocytes
- Female
- Genetic Variation
- Globins
- Glycine
- Hemoglobins, Abnormal
- Humans
- Male
- Middle Aged