G6Pd deficiency with severe hemolytic anemia: a case report
A 3-year-old boy presented to our atoll hospital in H.A Alif Dhidhoo, with severe pallor, jaundice, easy fatigability and recurrent episodes of passage of dark-colored urine for past 3 days. He was born mature at 39 weeks of gestation with no past significant medical history. Recent history revealed the consumption of 2 cans of fava beans and application of some medicinal herbs. On admission, physical examination revealed fever of 101 degree Fahrenheit, severe pallor, jaundice, cervical lymphadenopathy and mild hepatomegaly. Laboratory investigation results showed a hemoglobin level of 5.4 g/dl with a hemolytic blood picture and serum Bilirubin of 6mg/dl. The patient's G6PD level was measured which showed marked deficiency. Other causes of hemolytic anemia were excluded. Patient required urgent packed RBC transfusion and antibiotics for infection. He responded well to the treatment and was discharged in a stable condition. Parents were appropriately advised on the condition and the importance of avoiding certain foods and medication. Folic acid was prescribed for maintaining normal hemoglobin concentration. This is a first case report in North Maldives of G6PD presenting with severe hemolytic anemia requiring blood transfusion.
Nkhoma ET, Poole C, Vannappagari V, etal. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis 2009; 42(3):267-278.
WHO.Report of a WHO Working Group: Glucose-6- Phosphate Dehydrogenase Deficiency. WHO/HDP/WG/G6PD/85-9.1985.pp 1-7. Geneva
Lie-Injo LE, Ti TS. Glucose-6-phosphate dehydrogenase deficiency in Malayans. Trans R Soc Trop Med Hyg 1964; 58: 500- 502.
Singh. Glucose-6-phosphate dehydrogenase deficiency: A preventable cause of mental retardation. Br Med J Clin Res Ed 1986; 292:397 - 398.
Fok T, Lau S. Glucose-6-phosphate dehydrogenase deficiency: A preventable cause of mental retardation. BMJ 1986; 292:829.
Ariffin WA, Oppenheimer SJ, Sephiah M, Ee CK, Jamaluddin N, Zakaria R. Favism in Malays. J Paediatr Child Health 1990; 26:306.
Newton WAJ, Frajola WJ. Drug-sensitive chronic haemolytic anemia: Family studies. Clin Res 1958; 6:392.
Luzzatto L, Mehta A, Vulliamy T. Glucose-6-phosphate dehydrogenase deficiency. In: Dlm. Scriver CR, Beaudet RAL, Sly WS, Vallet D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 1995. pp 3367- 3398.
Beutler E, Grooms AM, Morgan SK, Trinidad F. Chronic severe hemolytic anemia due to glucose-6-phosphate dehydrogenase in East Harlem. J Paediatr 1972; 80:1005.
Rattazzi MC, Corash LM, Van Zanen GE, Jaffe ER, Piomelli S. G6PD deficiency and chronic hemolysis: Four new mutants- relationships between clinical syndrome and enzyme kinetics. Blood 1971; 38:205- 218.
Balinsky D, Gomperts E, Cayanis E, Jenkins T, Bryer D, Bersohn I, Metz J. Glucose-6-phosphate dehydrogenase Johannesburg: A new variant with reduced activity in a patient with congenital non-spherocytic hemolytic anemia. Br J Haematol 1973; 25:385.
Sonnet J, Lievens M, Verpoorten C, Kriekmans J, Eeckel R. Sporadic G6PD with haemolytic anemia in two children of the European ancestry. Br J Haematol 1974; 28:299.
Karadsheh NS, Awibi AS, Tarawaneh MS. Two new glucose- 6-phosphate dehydrogenase (G6PD) variants associated with hemolytic anemia. Am J Hematol 1986; 22:185.
Kirkman HN, Riley HD. Congenital non spherocytic hemolytic anemia. AMAJ Dis Child 1961; 102:313 - 320.
Miller DR, Wollman MR .A new variant of glucose-6 phosphate dehydrogenase deficiency hereditary hemolytic anemia, G6PD Cornell: Erythrocyte, leukocyte, and platelet studies. Blood. 1974;44:323
Mohler DN, Crockett CLJ. Hereditary hemolytic disease secondary to glucose-6-phosphate dehydrogenase deficiency. Report on 3 cases with special emphasis on ATP metabolism. Blood 1964; 23:427.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.