Article
Compound heterozygosity for two alpha-globin gene defects, Hb Taybe (alpha 1; 38 or 39 minus Thr) and a poly A mutation (alpha 2; AATAAA-->AATAAG), results in a severe hemolytic anemia.
American journal of hematology - 1 Nov 1994
Pobedimskaya D D, Molchanova T P, Streichman S, Huisman T H
Abstract excerpt
We have identified two alpha-globin gene variations in an Arabian male with severe hemolytic disease through sequencing of amplified DNA of his alpha 2- and alpha 1-globin genes. One of the abnormalities involves a CAC (ACC or CCA) deletion between codons 36 and 41 of the alpha 1-globin gene. Thi...
Topics
- Adult
- Amino Acid Sequence
- Anemia, Hemolytic
- Base Sequence
- Child, Preschool
- Chromatography, High Pressure Liquid
- DNA
- Down-Regulation
- Family Health
- Female
- Genetic Variation
- Globins
- Hemoglobins, Abnormal
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation