ABSTRACT
Objective To explore the clinical characteristics and gene analysis of hexokinase deficiency (HKD). Methods Clinical symptoms, hemolysis, laboratory findings and gene analysis of a boy with HKD in our department were retrospectively analyzed, and the literatures of HKD were reviewed. Results The patient was a six months old boy presented with neonatal hyperbilirubinemia, nonspherocytic hemolyticanemia, and increased proportion of reticulocytes. Genetic testing found two compound heterozygous mutations in HK1: c.995+5G > A (intron 12) inherited from father and c.2216G C (exon 20) inherited from the mother. In the literature, clinical features of the HKD patients were mainly anemic, neonatal jaundice and hepatosplenomegaly, and the gene detection mainly includes point mutation in HK1 gene exon and intron nucleotide. Conclusions In the case with neonatal anemia, jaundice, increased indirect bilirubin, HKD should be considered. Gene analysis can be used for early diagnosis.