Glucose-6-phosphate dehydrogenase deficiency: Difference between revisions

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==Case Studies==
==Case Studies==
[[Glucose-6-phosphate dehydrogenase deficiency case study one|Case #1]]
[[Glucose-6-phosphate dehydrogenase deficiency case study one|Case #1]]
==Diagnosis==
===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:
* [[Complete blood count]] - Hemoglobin decreases by 3-4 g/dL
* Increased [[reticulocyte]] count
* [[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===
* [[Heinz body|Heinz bodies]]
*  Beutler fluorescent spot test
* The Motulsky dye-decolouration test
* Direct DNA testing and/or sequencing of the G6PD gene.
====Heinz bodies: Early diagnosis====
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.


==Treatment==
==Treatment==

Revision as of 18:13, 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

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Glucose-6-phosphate dehydrogenase deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

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  • The most important measure is prevention - avoidance of the drugs and foods that cause hemolysis.
  • Vaccination against some common pathogens (e.g. hepatitis A) may prevent infection-induced attacks.

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bn:গ্লুকোজ-৬-ফসফেট ডিহাইড্রোজেনেজ স্বল্পতা bg:Глюкозо-6-фосфатдехидрогеназна недостатъчност de:G6PD-Mangel hr:Manjak enzima glukoza-6-fosfat dehidrogenaze he:חוסר G6PD simple:Favism th:โรคพร่องเอนไซม์ G-6-PD


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