Case report: pyruvate kinase deficiency.
Pyruvate kinase deficiency is a rare cause of congenital hemolytic anemia. Despite a paucity of reports, splenectomy resulted in successful outcomes for two siblings with this disorder. The sisters were diagnosed at birth with profound jaundice and congenital nonspherocytic hemolytic anemia.
Rothman
J M
JM
South Jersey Hospital System, Millville, USA.
D000293:Adolescent; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics* / Q000601:surgery; D005260:Female; D006801:Humans; D011770:Pyruvate Kinase / Q000172:deficiency*; D013156:Splenectomy
D011770:Pyruvate Kinase