Congenital methaemoglobinemia

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• Causes

  • HbB gene mutation
  • CYB5R3 gene mutation
  • Haemoglobin M
  • NADH-cytochrome b5 reductase deficiency
  • Glucose-6-phosphate dehydrogenase deficiency

• Parents

  • Methaemoglobinaemia
  • Autosomal recessive congenital metabolic disease

• Description

  • "Autsomal recessive. Two types: 1)Deficiency of the enzyme NADH methemoglobin reductase. 2)Presence of altered form of haemoglobin (Hb M). "