Glucose-6-phosphate dehydrogenase deficiency classification: 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. | ||
==Classification== | |||
There are four forms of [[G6PD]]: | |||
# [[Hereditary nonspherocytic hemolytic anemia]] | |||
# Severe deficiency | |||
# Mild deficiency | |||
# Non-deficient variant | |||
# [[Favism]] is a disorder characterized by [[hemolytic anemia]] in response to ingestion of fava beans. [[Favism]] as a diagnosis has been known since antiquity, perhaps in relation to Pythagoras, among others. All individuals with favism show [[G6PD deficiency]]. However, not all individuals with [[G6PD deficiency]] show [[favism]]. For example, in a small study of 757 Saudi men, more than 42% showed [[G6PD deficiency]], but none reported symptoms of [[favism]], despite fava in the diet.<ref>{{cite web |url=http://www.kfshrc.edu.sa/annals/166/95-371.html |title=Common G6PD variant from Saudi population |accessdate=2007-10-28 |format= |work=}}</ref> [[Favism]] is known to be more prevalent in infants and children, and [[G6PD]] genetic variant can influence chemical sensitivity. Other than this, the detailed chemical relationship between [[favism]] and [[G6PD]] is not well known. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 18:08, 21 September 2012
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Glucose-6-phosphate dehydrogenase deficiency Microchapters |
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Differentiating Glucose-6-phosphate dehydrogenase deficiency from other Diseases |
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Glucose-6-phosphate dehydrogenase deficiency classification On the Web |
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Risk calculators and risk factors for Glucose-6-phosphate dehydrogenase deficiency classification |
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.
Classification
There are four forms of G6PD:
- Hereditary nonspherocytic hemolytic anemia
- Severe deficiency
- Mild deficiency
- Non-deficient variant
- Favism is a disorder characterized by hemolytic anemia in response to ingestion of fava beans. Favism as a diagnosis has been known since antiquity, perhaps in relation to Pythagoras, among others. All individuals with favism show G6PD deficiency. However, not all individuals with G6PD deficiency show favism. For example, in a small study of 757 Saudi men, more than 42% showed G6PD deficiency, but none reported symptoms of favism, despite fava in the diet.[1] Favism is known to be more prevalent in infants and children, and G6PD genetic variant can influence chemical sensitivity. Other than this, the detailed chemical relationship between favism and G6PD is not well known.
References
- ↑ "Common G6PD variant from Saudi population". Retrieved 2007-10-28.