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

Updated: Dec 21, 2020
  • Author: Mary Denshaw-Burke, MD, FACP; Chief Editor: Emmanuel C Besa, MD  more...
  • Print

Hereditary methemoglobinemias may be divided into two categories as follows [17] :

  • 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.

Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!