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[The clinical and laboratory characteristics of congenital pyruvate kinase deficiency]
1Institute of Hematology and Blood Disease Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, State Key Laboratory of Experimental Hematology, Tianjin 300020, China.
Abstract:
Clinical data of 19 patients with congenital pyruvate kinase deficiency were analyzed. Insufficient pyruvate kinase confirmed the diagnosis. Laboratory parameters of hemolysis were summarized. In cases of neonatal hyperbilirubinemia and unexplained hemolytic anemia, pyruvate kinase activity and next generation sequencing test may help the early diagnosis.
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