Skip to Content

congenital methemoglobinemia



  1. methemoglobinemia due to formation of any one of a group of abnormal a chain [MIM*141800] or ß chain [MIM*141900] hemoglobins collectively known as hemoglobin M. Slate-gray cyanosis occurs in early infancy, without pulmonary or cardiac disease, and is resistant to ascorbic acid or methylene blue therapy; autosomal dominant inheritance;
  2. methemoglobinemia due to deficiency of cytochrome b5 reductase [MIM*250790] or methemoglobin reductase [MIM*250700], the enzyme responsible for reduction of intraerythrocyte methemoglobin; cyanosis is improved by ascorbic acid or methylene blue; autosomal recessive inheritance;

Synonym(s): hereditary methemoglobinemia, hereditary methemoglobinemic cyanosis, primary methemoglobinemia

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.