Methemoglobinemia screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Template:Aksiniya K. Stevasarova, M.D.
Overview
Congenital (Hereditary) Methemoglobinemia
There are three main congenital conditions that lead to methemoglobinemia:
1. Cytochrome b5 reductase deficiency and pyruvate kinase deficiency
3. Presence of abnormal hemoglobin (Hb M)
Acquired or Acute Methemoglobinemia
Some of the most common causes include different oxidant drugs, toxins and chemicals.
Screening
Currently in the United States the newborn screening for G6PD is not routinely done. It is performed only in neonates presenting with jaundice. [1]
Currently we have a screening test for G6PD deficiency that has been tested in Thai population, since G6PD is very common in this pateint population. It is called methemoglobin reduction test (MRT), it is not expensive and it uses cord blood of neonates to check for the enzyme deficiency. Even though it has low sensitivity around 65%, it does have acceptable specificity arounf 90%. [2]
- ↑ "PMID: 10916676" Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):21-38. Glucose-6-phosphate dehydrogenase deficiency. Mehta A1, Mason PJ, Vulliamy TJ.
- ↑ "pmid11529386" J Med Assoc Thai. 2001 Jun;84 Suppl 1:S91-8. The value of methemoglobin reduction test as a screening test for neonatal glucose 6-phosphate dehydrogenase deficiency. Sanpavat S1, Nuchprayoon I, Kittikalayawong A, Ungbumnet W.