Eder's methemoglobinemia

Methemoglobinemia Eder a

Methemoglobinemia is an extremely rare orphan disease caused by hereditary deficiency of HbF reductase (MetHbR) or a decrease in its activity. This genetically determined disorder of the enzymatic metabolism of intracellular and cytosolic hemoglobin - MetHbR of erythrocytes, is characterized by severe hemolytic anemia.

In modern literature, three main clinical types of Eder methemoglubinemia are identified with the manifestation of several forms of the disease.

Type I - varicegthemal methemoglyu nonpolychromia - is represented not only by normochromic, but also by microcytic hemolytic anemia, complicated by chronic respiratory distress. The mechanism of occurrence of the disorder is explained by a deficiency of erythrocyte metahemoglobin ferreductase. The functional characteristics of the enzyme are clinically manifested by the combination of a homozygous gene, a defective coding sequence and