What is the role of genetics in the etiology of methemoglobinemia?

Updated: Dec 09, 2018
  • Author: Mary Denshaw-Burke, MD, FACP; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Hereditary methemoglobinemias may be divided into two categories as follows [16] :

  • Methemoglobinemia due to an altered form of hemoglobin (ie, Hb M)
  • Methemoglobinemia due to an enzyme deficiency (NADH reductase deficiency) that decreases the rate of reduction of iron in the hemoglobin molecule

Several variants of hemoglobin M have been described, including Hb Ms, Hb MIwate, Hb MBoston, Hb MHyde Park, and Hb MSaskatoon. These are usually autosomal dominant in nature. Alpha-chain substitutions cause cyanosis at birth, whereas the effects of beta-chain substitutions become clinically apparent in infants at 4-6 months of age.


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