Heterogeneity of Hereditary Methaemoglobinaemia: A Study of 4 Cuban Families with NADH‐Methaemoglobin Reductase Deficiency Including a New Variant (Santiago de Cuba Variant)

NADH-methaemoglobin reductase deficiency has been found in 4 Cuban families; 3 subjects carried the mild form of the deficiency while in 2 sibs of the fourth family the deficiency was associated with neurological involvement. The parents in this family were consanguinous and the sibs were shown to be homozygous for a new fast electrophoretic variant. It was named Diaphorase Santiago de Cuba.