Article
Unusual molecular basis of Hb H disease in the Azores Islands, Portugal.
Hemoglobin - 1 Jan 1990
Romão L, Olim G, Martins M C, Rodrigues V, Coutinho-Gomes M P, Lavinha J
Abstract excerpt
An Azorean family with Hb H disease (10% Hb H) was studied in order to elucidate its molecular basis. DNA studies on the patient only revealed a 4.2 kb "leftward" deletion of paternal origin which implies the co-inheritance of a nondeletional alpha-thalassemia determinant. Restriction endonucleas...
Topics
- Azores
- Child
- DNA
- Female
- Hematologic Tests
- Hemoglobin H
- Humans
- Mutation
- Pedigree
- Restriction Mapping
- Thalassemia