Pyruvate Kinase Deficiency
Autozomálně recesivní · 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.
Co se diagnózou změní
Mitapivat, an oral medicine that activates pyruvate kinase, is approved for adults, and a diagnosis guides decisions on iron monitoring and spleen removal.
Analyzované geny
Známé také jako
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
