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

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-msbeih@perfuse.org +msbeih@wikidoc.org, -psingh@perfuse.org +psingh13579@gmail.com, -agovi@perfuse.org +agovi@wikidoc.org, -rgudetti@perfuse.org +ravitheja.g@gmail.com, -lbiller@perfuse.org +lbiller@wikidoc.org,...)
No edit summary
 
(10 intermediate revisions by 3 users not shown)
Line 1: Line 1:
__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}}
 
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}


[[Category:Disease]]
{{WH}}
[[Category:Hematology]]
{{WS}}
[[Category:Mature chapter]]
[[Category: (name of the system)]]
[[Need content]]

Latest revision as of 23:26, 19 December 2018


Glucose-6-phosphate dehydrogenase deficiency Microchapters

Home

Patient Information

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

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Glucose-6-phosphate dehydrogenase deficiency laboratory findings On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Glucose-6-phosphate dehydrogenase deficiency laboratory findings

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Glucose-6-phosphate dehydrogenase deficiency laboratory findings

CDC on Glucose-6-phosphate dehydrogenase deficiency laboratory findings

Glucose-6-phosphate dehydrogenase deficiency laboratory findings in the news

Blogs on Glucose-6-phosphate dehydrogenase deficiency laboratory findings

Directions to Hospitals Treating Glucose-6-phosphate dehydrogenase deficiency

Risk calculators and risk factors for Glucose-6-phosphate dehydrogenase deficiency laboratory findings

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.

Template:WH Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Glucose-6-phosphate_dehydrogenase_deficiency_laboratory_findings&oldid=1510987"