Hereditary spherocytosis: Genetics

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Hereditary spherocytosis is a genetic condition. In most cases it is inherited from a parent. Learn how HS is inherited and what happens in a de novo mutation.

Key points

  • Hereditary spherocytosis (HS) is an inherited blood disorder of the red blood cells.
  • HS affects approximately 1 in 2000-3000 people. The number of cases may be higher as mild cases can go undiagnosed.
  • A person can inherit HS through an autosomal dominant inheritance, autosomal recessive inheritance, or a de novo mutation. A de novo mutation occurs by chance and is not inherited from either parent.
Last updated: January 2nd 2019