Pyruvate Kinase Deficiency
Autoszomális recesszív · Estimated at around 1 in 20,000 people.
A recessive condition caused by changes in PKLR, ranging from mild anaemia to severe anaemia needing regular transfusions, often with jaundice, gallstones and iron overload.
Mit változtat a diagnózis
Mitapivat, an oral medicine that activates pyruvate kinase, is approved for adults, and a diagnosis guides decisions on iron monitoring and spleen removal.
Vizsgált gének
Más néven
anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient; hemolytic anaemia due to pyruvate Kinase deficiency; hemolytic anaemia due to red cell pyruvate kinase deficiency; hemolytic anemia due to pyruvate Kinase deficiency; hemolytic anemia due to red cell pyruvate kinase deficiency; PK deficiency; pyruvate kinase deficiency of erythrocyte
