Living with Glucose-6-Phosphate Dehydrogenase Deficiency
Abstract
Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is an X-linked recessive hereditary disease characterized by abnormally low levels of glucose-6-phosphate dehydrogenase, a metabolic enzyme involved in the pentose phosphate pathway, especially important in red blood cell metabolism. G6PD deficiency is the most common human enzyme defect. Individuals with this disease may exhibit non-immune hemolytic anemia in response to a number of causes, most commonly infection or exposure to certain medications or fava beans. G6PD deficiency is closely linked to a disorder characterized by a hemolytic reaction to the consumption of fava or broad beans, with a name derived from the Italian name of the broad bean (fava). This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath and a rapid heart rate. It has been proposed that G6PD deficiency provides protection against malaria. Some babies with G6PD deficiency may have jaundice for longer than usual in the first month of life. Most people with G6PD deficiency have a completely normal life as long as they avoid certain foods and drugs.
DOI: https://doi.org/10.37591/jonsp.v6i1.728
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