[Hereditary methemoglobinemias].
The different forms of hereditary methemoglobinemia are described. Dominant hereditary methemoglobinemia (hemoglobin M diseases) is due to punctual mutations on the alpha or beta globin chain leading to its permanent oxidation. Recessive hereditary methemoglobinemia is due to a deficit of the NADH-cytochrome b5 reductase, with two different clinical presentations according to whether the deficit is limited to blood cells (type I) or is generalized (type II); the latter is extremely severe and justifies a prenatal diagnosis. Finally, the only known case of recessive hereditary methemoglobinemia due to a deficit of b5 cytochrome is quoted.
Beauvais
P
P
Hôpital Armand-Trousseau, Paris, France.
D003579:Cytochrome Reductases / Q000378:metabolism*; D042966:Cytochrome-B(5) Reductase; D015786:Cytochromes b5; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007070:Immunoglobulin A / Q000032:analysis; D007136:Immunoglobulins / Q000032:analysis; D008708:Methemoglobinemia / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
D007070:Immunoglobulin A; D007136:Immunoglobulins; C038767:immunoglobulin B; D015786:Cytochromes b5; D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase
Les méthémoglobinémies héréditaires.