Hereditary Methemoglobinemia

Hereditary methemoglobinemia is an autosomal dominant disorder which is due to either to the presence of one of the M hemoglobins or the deficiency of the enzyme cytochrome B5 reductase. Cytochromeb5 reductase reductase deficiency have lifelong cyanosis of variable degree, depending on the level of methemoglobin, but usually have no associated symptoms or other physical findings.

A 18 year old male referred our hospital with breathlessness, weakness, headache, central cyanosis which is sustained from the birth. He had been investigated by cardiology and pneumonology departments of different hospitals in respect of congenital
heart diseases and lung diseases. Our diagnostic evaluation revealed hereditary methomoglobinemia. We found cytchrome b5 reductase enzyme deficiency in this patient.
Methoboglobinemia especially hereditay form is rare cause of central type cyanosis that is way when we investigate cyanosis in adult patient, we should keep hereditary methomoglobinemia in our minds.

Keywords: Hereditary methemoglobinemia, cycthcrome B5 reductase enzyme, hemoglobine M

Herediter Methemoglobinemi

Anahtar Kelimeler: Herediter mnethemoglobinemi, sitokrom B5 reduktaz enzimi, hemoglobin M