Article
Severe hemolytic anemia associated with the homozygous state for an unstable hemoglobin variant (Hb Bushwick).
Blood - 1 Sept 1995
Srivastava P, Kaeda J S, Roper D, Vulliamy T J, Buckley M, Luzzatto L
Abstract excerpt
We have investigated a 13-year-old girl from first cousin parents who presented with severe hemolytic anemia. Hematologic studies showed unstable hemoglobin (Hb) disease (chronic Heinz body anemia), and DNA analysis showed that the patient was homozygous for the previously reported abnormal Hb called Hb Bushwick (beta 74E18 gly-->val). Hb Bushwick is unstable in vitro and in vivo. In addition, using globin chain...
Topics
- Adolescent
- Adult
- Aged
- Anemia, Hemolytic
- Base Sequence
- Basophils
- Child
- Consanguinity
- DNA Primers
- Exons
- Female
- Genetic Variation
