C131645Level 7
Hexokinase Deficiency
**Semantic type:** Disease or Syndrome
**Definition:** A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia.
**Synonyms:** - Erythrocyte Hexokinase Deficiency - HK1 Deficiency
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