CD59-Mediated Hemolytic Anemia (CD59)

CD59-mediated hemolytic anemia is an autosomal recessive disorder caused by pathogenic variants in the gene CD59. Onset of symptoms begins in infancy. This disorder is characterized by severe muscle weakness of the lower limbs with comparatively more mild weakness in the hands and demyelination of sensory and motor nerves. The disease course is typically characterized by relapsing and remitting polyneuropathy (disease of the peripheral nerves) that worsens during times of illness or infection. Rarely, individuals will not have peripheral nervous system involvement until adulthood. No clear genotype-phenotype correlation has been established. Life expectancy is reduced and the disease may cause sudden death.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):