Glucose-6-phosphate dehydrogenase deficiency

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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

Diagnosis

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

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.

Epidemiology and Demographics

  • G6PDD is said to be the most common enzyme deficiency disease in the world, affecting approximately 400,000,000 people globally.[1]
  • A side effect of this disease is that it confers protection against malaria, in particular the form of malaria caused by Plasmodium falciparum, the most deadly form of malaria.
  • A similar relationship exists between malaria and sickle-cell disease. An explanation is that cells infected with the Plasmodium parasite are cleared more rapidly by the spleen. This phenomenon might give G6PD deficiency carriers an evolutionary advantage.

Classification

There are four forms of G6PD:

  1. Hereditary nonspherocytic hemolytic anemia
  2. Severe deficiency
  3. Mild deficiency
  4. Non-deficient variant
  5. 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.[2] 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.

Risk Factors

  • Ethnic groups
    • African American
    • Middle Eastern decent, particularly Kurdish or Sephardic Jewish
  • Male
  • Family history of the deficiency

Pathophysiology

Mechanism of G6PD
Mechanism of G6PD















History and Symptoms

History

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

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:

Specific tests for G6PD anemia

  • 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 RBCs 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 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

Primary Prevention

  • 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.

References

  1. http://www.rddiagnostics.com/g6pd_faq.htm
  2. "Common G6PD variant from Saudi population". Retrieved 2007-10-28.
  3. Gaskin RS, Estwick D, Peddi R (2001). "G6PD deficiency: its role in the high prevalence of hypertension and diabetes mellitus". Ethnicity & disease. 11 (4): 749–54. PMID 11763298.
  4. "The G6PD Deficiency Homepage -- Table 2". Retrieved 2007-10-28.
  5. 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.

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