First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family

We describe the first case of prenatal diagnosis for pyruvate kinase (PK) deficiency in Chinese and emphasize that this disease is an important differential diagnosis in pediatric patients with non-spherocytic hemolytic anemia. A Han Chinese child with a history of severe transfusion-dependent hemolytic anemia was diagnosed to have PK deficiency. Prenatal diagnosis was performed on the second child based on the genetic findings from the family. The index patient was compound heterozygous for a missense mutation (c.1073G > A. p.Gly358Glu) from his father and a large deletion (c.283 + 1914_c.1434del5006) from his mother. The fetus was a simple heterozygote for the paternal mutation. Pregnancy was allowed to continue and a healthy baby was born. Severe PK deficiency warranting prenatal diagnosis is seen in Han Chinese. Genetic characterization and genotype-phenotype correlation studies on PKLR in different populations are indicated to better define the role of prenatal diagnosis in PK deficiency.