Glucose-6-phosphate dehydrogenase deficiency history and symptoms: Difference between revisions
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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
- 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.