Article
Polycythaemia associated with homozygosity for the abnormal haemoglobin Sherwood Forest (beta 104 (G6)Arg-->Thr).
British journal of haematology - 1 Apr 1994
Williamson D, Beresford C H, Langdown J V, Anderson C C, Green A R
Abstract excerpt
We describe a 22-year-old Pakistani male with polycythaemia associated with homozygosity for a high-affinity haemoglobin mutant, Hb Sherwood Forest. This haemoglobin variant has an amino acid substitution in the beta globin chain at position 104, Arg-->Thr. In the two previously reported instances of this haemoglobin mutant the individuals were heterozygotes and were haematologically normal. We show here that the...
Topics
- Adult
- Base Sequence
- DNA
- Electrophoresis, Cellulose Acetate
- Globins
- Hemoglobins, Abnormal
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation