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Here we reported a Chinese Han infant patient with severe transfusion-dependent CHA. Next-generation sequencing (NGS) revealed the co-existence of 2 compound heterozygous mutations of PKLR and SPTA1 genes. PKLR gene is located on chromosome 1q22 and encodes pyruvate kinase (PK). PK participates in anaerobic glycolysis providing 50% ATP for mature RBCs. PKLR gene misfunction leads to pyruvate kinase deficiency (PKD) with ATP deprivation and shortened RBCs lifespan. And SPTA1 gene, located on chromosome 1q23.1, encodes a-spectrin, a major component of cytoskeleton. Defects in SPTA1 gene leads to unstable RBCs membrane, characterized by peripheral accumulated RBCs with abnormal shape, such as hereditary spherocytosis (HS), hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP). Both of the 2 genes result in diseases inherited in autosomal recessive manner, so clinical symptoms only occur in homozygotes or compound heterozygotes with 2 mutant alleles.

Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy