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Background: Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic disorder with a deficiency or absence of G6PD, an enzyme required for the proper function of red blood cells. The pattern of inheritance for G6PD gene mutation is sex-linked recessive. It thus affects males and either homozygous or heterozygous females whose unaffected X chromosome is inactivated (lyonized females). Autoimmune hemolytic anemia (AIHA) is a disorder characterized by premature destruction of red blood cells (RBC) by autologous RBC autoantibodies whose presence is demonstrated by a positive direct antiglobulin (Coombs) test (DAT). AIHA is classified into primary or idiopathic and secondary types based on the absence or presence of an underlying disease. In Nigeria AIHA is rare in children but secondary forms are common in teenagers. Chronic granulomatous disease (CGD) is a rare, genetic, immune disorder characterized by neutrophil dysfunction and deficiency or absence of G6PD in both neutrophils and RBC. CGD has both sex-linked recessive and autosomal recessive pattern of inheritance. Therefore CGD with G6PD could occur in a female with X chromosome anomaly in whom co-existence of an immune disorder and G6PD deficiency could worsen hemolysis.
Aim: To highlight the possible existence of the rare chronic granulomatous disease.
Case: To describe a case of acute hemolytic anaemia on a background of G6PD deficiency, positive direct Coombs test and a seeming neutrophil dysfunction in an adolescent female.
Case Report: We report a case of a G6PD deficient 14 year-old female with systemic inflammatory response syndrome, marked neutrophillia yet mild toxic granulation, steroid-responsive hemolytic anemia and positive direct Coombs test.
Conclusion: C6PD deficiency and AIHA may co-exist in an adolescent female possibly as part of CGD but a definitive diagnosis of CGD is required.
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