Glucose-6-Phosphatase Dehydrogenase Deficiency: Diagnosis at Presentation
Keywords:
G-6-PD, Hemolysis
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a most common enzyme deficiency worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia with acute and chronic hemolysis. Persons with this condition also may be asymptomatic. This X-linked inherited disorder most commonly affects persons of African, Asian, Mediterranean or Middle-Eastern descent. Approximately 400 million people are affected worldwide. This is a case of a 37 year old man who presented with a typical clinical and haematological picture of favism. There was no initial difficulty in confirming G6PD deficiency because the enzyme concentrations were compatible with heterozygosity for G6PD deficiency. It is uncommon for the patient to present with low G6PD level at presentation; hence this case is being reported.References
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2. Luzzatto L, Mehta A, Vulliamy T: Glu-cose-6-phosphate dehydrogenase deficiency. In The Metabolic and Molecular Basis of Inherited Disease 8th edition. Edited by: Scriver ChR, Beaudet AL, Sly WS, Valle D. New York: McGraw Hill; 2001:4517-4553.
3. Seifert G, Sobin LH. The World Health Organiza-tion ́s Histological Classification of Salivary Gland Tumors. Cancer 1992;70:379-85.
4. Beutler E: Glucose-6-Phosphate Deficiency. N Engl J Med 1991; 324:169-174
5. Srivastava SK, Beutler E:Glutathione metabolism of the erythrocyte. The enzymatic cleavage of glu-tathione-hemoglobin preparations by glutathione reductase. Biochem J 119:353-361,1970
6. Baxi AJ. G6PD deficiency. A note on the distribu-tion of gene frequency in India.
Proc. 1st conf. Ind. Soc. Hum. Genet. Vol. 1 Human population genetics in India. Ms. Orient Longman Ltd. p 60 1974.
7. Jandle JH: Heinz body hemolytic anemia. In Jandle JH, ed. Blood; Textbook of Haematology 1st ed.Boston/Toronto. Little, Brown and Company 1987,335-350.
8. Beutler E: Glucose-6-Phosphate Deficiency.IN Stanbury JB et al. ed. The metabolic basis of inher-ited disease, 3rd ed. New York, Mc Graw Hill,1972.
Published
2015-11-06
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Section
Case Reports
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