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hereditary methemoglobinemia
Epidemiology: very uncommon
Pathology:
- 3 forms
1) type 1 (HM1) in which the enzyme is only deficient in erythrocytes with a mild cyanosis
2) type 2 (HM2), in which the enzyme is completely deficient
3) type 3 (HM3) where deficiency is seen in all blood cells
Genetics:
- associated with defects in CYB5R3
Clinical manifestations:
- minimal to moderate cyanosis
- type 2 is a severe form accompanied with mental retardation & neurological impairment
Laboratory:
- increased venous blood methemoglobins of 10-20% of total hemoglobin
General
methemoglobinemia
genetic disease of the blood/bone marrow
Database Correlations
OMIM 250800
References
OMIM :accession 250800