Glucose-6-phosphate dehydrogenase deficiency history and symptoms: Difference between revisions
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{{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh@perfuse.org] | {{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh@perfuse.org] | ||
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==Overview== | ==Overview== | ||
'''Glucose-6-phosphate dehydrogenase (G6PD) deficiency''' is an [[Sex-linked|X-linked recessive]] [[hereditary disease]] featuring abnormally low levels of the [[G6PD]] enzyme, which plays an important role in [[red blood cell]] function. Individuals with the disease may exhibit non-immune [[hemolytic anemia]] in response to a number of causes. It is closely linked to '''[[favism]]''', a disorder characterized by a hemolytic reaction to consumption of [[Vicia faba|broad bean]]s, with a name derived from the [[Italian language|Italian]] name of the broad bean (''fava''). Sometimes the name, [[favism]], is alternatively used to refer to the enzyme | '''Glucose-6-phosphate dehydrogenase (G6PD) deficiency''' is an [[Sex-linked|X-linked recessive]] [[hereditary disease]] featuring abnormally low levels of the [[G6PD]] enzyme, which plays an important role in [[red blood cell]] function. Individuals with the disease may exhibit non-immune [[hemolytic anemia]] in response to a number of causes. It is closely linked to '''[[favism]]''', a disorder characterized by a hemolytic reaction to consumption of [[Vicia faba|broad bean]]s, with a name derived from the [[Italian language|Italian]] name of the broad bean (''fava''). Sometimes the name, [[favism]], is alternatively used to refer to the enzyme | ||
Revision as of 18:43, 21 September 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.D. [2]
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Overview
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hereditary disease featuring abnormally low levels of the G6PD enzyme, which plays an important role in red blood cell function. Individuals with the disease may exhibit non-immune hemolytic anemia in response to a number of causes. It is closely linked to favism, a disorder characterized by a hemolytic reaction to consumption of broad beans, with a name derived from the Italian name of the broad bean (fava). Sometimes the name, favism, is alternatively used to refer to the enzyme deficiency as a whole.
History and Symptoms
History
- Patients are almost exclusively male, due to the X-linked pattern of inheritance, but female carriers can be clinically affected due to lyonization where random inactivation of an X-chromosome in certain cells creates a population of G6PD deficient red cells coexisting with normal red cells.
- History of hemolytic crises occurs 2-4 days in response to:
- Certain drugs:
- Primaquine (an antimalarial)
- Sulphonamide antibiotics
- Sulphones (e.g. dapsone, used against leprosy)
- Other sulphur-containing drugs: glibenclamide (an anti-diabetic drug)
- Nitrofurantoin (an antibiotic often used for urinary tract infections)
- Vitamin K analogues
- Several others[1]
- Henna can cause a haemolytic crisis in G6PD deficient infants.[2]
- Certain foods, most notably broad beans
- Illness (severe infections)
- Diabetic ketoacidosis
- Certain drugs:
Symptoms
- Symptoms suggestive of anemia such as fatigue, palpitation
- Prolonged jaundice
- Hemolytic features like dark colored urine
- Abdominal or back pain
- Very severe crises can cause acute renal failure
References
- ↑ "The G6PD Deficiency Homepage -- Table 2". Retrieved 2007-10-28.
- ↑ Raupp P, Hassan JA, Varughese M, Kristiansson B (2001). "Henna causes life threatening haemolysis in glucose-6-phosphate dehydrogenase deficiency". Arch. Dis. Child. 85 (5): 411–2. PMID 11668106.