Glucose-6-phosphate dehydrogenase deficiency laboratory findings: Difference between revisions

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__NOTOC__
{{Glucose-6-phosphate dehydrogenase deficiency}}
{{Glucose-6-phosphate dehydrogenase deficiency}}
{{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh13579@gmail.com]
 
{{CMG}} {{shyam}}; {{AE}}{{MA}} [mailto:malihash@bidmc.harvard.edu]


==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
deficiency as a whole.
==Laboratory diagnosis==
The diagnosis is generally suspected when patients from certain ethnic groups develop [[anemia]], [[jaundice]] and symptoms of [[hemolysis]] after challenge to any of the above causes, especially when there is a positive family history. The hemolysis spontaneously resolves in approximately 1 week as the older enzyme-depleted cells are replaced by new cells with sufficient G6PD to prevent further hemolysis.


Generally, tests will include:
Laboratory findings consistent with the diagnosis of G6PD deficiency include hemoglobinuria, neonatal hyperbilirubinemia, elevated lactate dehydrogenase in hemolysis.
* [[Complete blood count]] - Hemoglobin decreases by 3-4 g/dL
 
* Increased [[reticulocyte]] count
==Laboratory Findings==
* [[Haptoglobin]] (decreased in hemolysis)
* [[Liver enzyme]]s (to exclude other causes of [[jaundice]])
* [[Thyroid-stimulating hormone|TSH]] measurement.
* A "[[Coombs test|direct antiglobulin test]]" (Coombs' test) - this should be negative, as [[hemolysis]] in G6PD is not immune-mediated
* Since, reticulocytes can have normal G6PD levels, measuring G6PD levels during an acute episode may produce a false-negative result.


===Specific tests for G6PD anemia===
Laboratory findings consistent with the diagnosis of G6PD deficiency include:<ref name="pmid28461823">{{cite journal |vauthors=Isa HM, Mohamed MS, Mohamed AM, Abdulla A, Abdulla F |title=Neonatal indirect hyperbilirubinemia and glucose-6-phosphate dehydrogenase deficiency |journal=Korean J Pediatr |volume=60 |issue=4 |pages=106–111 |date=April 2017 |pmid=28461823 |pmc=5410616 |doi=10.3345/kjp.2017.60.4.106 |url=}}</ref>
* [[Heinz body|Heinz bodies]]
*[[Hemoglobinuria]]
*  Beutler fluorescent spot test
*Neonatal [[hyperbilirubinemia]]
* The Motulsky dye-decolouration test
*Elevated lactate dehydrogenase in [[hemolysis]]
* Direct DNA testing and/or sequencing of the G6PD gene.
*Decreased [[haptoglobin]] in [[hemolysis]]
====Heinz bodies: Early diagnosis====
*Negative direct antiglobulin test or [[coombs test]] in non immumne hemolysis 
When a macrophage in the spleen "sees" an [[RBC]] with a [[Heinz body]], it removes the precipitate and a small piece of the membrane, leading to characteristic "bite cells". However, if a large number of [[Heinz bodies]] are produced, as in the case of [[G6PD deficiency]], some [[Heinz bodies]] will nonetheless be visible when viewing [[RBC]]s that have been stained with crystal violet. This easy and inexpensive test can lead to an initial presumption of [[G6PD deficiency]], which can be confirmed with the other tests.
====Beutler fluorescent spot test: Late diagosis====
The '''Beutler fluorescent spot test''' is a rapid and inexpensive test that visually identifies [[Nicotinamide adenine dinucleotide phosphate|NADPH]] produced by [[G6PD]] under [[ultraviolet light]]. When the blood spot does not fluoresce, the test is positive; it can be false-positive in patients who are actively hemolysing. It can therefore only be done several weeks after a hemolytic episode.
====Bite or Blister cells====
* In glucose-6-phosphate dehydrogenase deficiency, "bite" or "blister" cells are produced when accumulated oxidized hemoglobin remains adherent to the erythrocyte membrane, which creates an adjacent membrane-bound clear zone.


==References==
==References==
{{reflist|2}}
{{Reflist|2}}
 
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Latest revision as of 23:26, 19 December 2018


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [3] [4]

Overview

Laboratory findings consistent with the diagnosis of G6PD deficiency include hemoglobinuria, neonatal hyperbilirubinemia, elevated lactate dehydrogenase in hemolysis.

Laboratory Findings

Laboratory findings consistent with the diagnosis of G6PD deficiency include:[1]

References

  1. Isa HM, Mohamed MS, Mohamed AM, Abdulla A, Abdulla F (April 2017). "Neonatal indirect hyperbilirubinemia and glucose-6-phosphate dehydrogenase deficiency". Korean J Pediatr. 60 (4): 106–111. doi:10.3345/kjp.2017.60.4.106. PMC 5410616. PMID 28461823.

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