A glucose-6-phosphate dehydrogenase (G6PD) splice site consensus sequence mutation associated with G6PD enzyme deficiency
β Scribed by Sean Sanders; Darrin P. Smith; Geraldine A. Thomas; E.Dillwyn Williams
- Book ID
- 114071148
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 345 KB
- Volume
- 374
- Category
- Article
- ISSN
- 0027-5107
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Two glucose-6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD Amman-1 was partially purified from the red cells of a patient suffering from recurrent jaundice and spontaneous episodic attacks of severe hemolysis in the absence of oxidant drugs, infection, or fava beans. The enzymatic
## Abstract A 28βyearβold asymptomatic male of Iranian Jewish (Meshadi) heritage was found on routine exam to have an erythrocytosis (RBC = 6.22 Γ 10^12^/l, Hgb = 19.2 g/dl, Hct = 58.9%). Splenomegaly was absent on physical exam. There was no family history of erythrocytosis. His oxygen dissociatio