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'''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
deficiency as a whole.
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 [[hemolysis|hemolytic]] crises occurs 2-4 days in response to:
** Certain [[medication|drugs]]:
*** [[Primaquine]] (an [[malaria|antimalarial]])
*** [[Sulphonamide]] [[antibiotic]]s
*** Sulphones (e.g. [[dapsone]], used against [[leprosy]])
*** Other sulphur-containing drugs: [[glibenclamide]] (an [[anti-diabetic drug]])
*** [[Nitrofurantoin]] (an [[antibiotic]] often used for [[urinary tract infection]]s)
*** [[Vitamin K]] analogues
*** Several others<ref>{{cite web |url=http://www.rialto.com/g6pd/table2.htm |title=The G6PD Deficiency Homepage -- Table 2 |accessdate=2007-10-28 |format= |work=}}</ref>
*** [[Henna]] can cause a haemolytic crisis in G6PD deficient infants.<ref>{{cite journal |author=Raupp P, Hassan JA, Varughese M, Kristiansson B |title=Henna causes life threatening haemolysis in glucose-6-phosphate dehydrogenase deficiency |journal=Arch. Dis. Child. |volume=85 |issue=5 |pages=411–2 |year=2001 |pmid=11668106 |doi=}}</ref>
** Certain foods, most notably [[broad bean]]s
** Illness (severe infections)
** [[Diabetic ketoacidosis]]
===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==
==References==
{{reflist|2}}
{{reflist|2}}

Revision as of 18:12, 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]

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

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

  1. "The G6PD Deficiency Homepage -- Table 2". Retrieved 2007-10-28.
  2. 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.


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