Spherocytosis, Type 5 (EPB42)

Spherocytosis, type 5 is an autosomal recessive disorder caused by pathogenic variants in the gene EPB42. This mild- to moderately-severe chronic non-immune hemolytic anemia can present in newborns as jaundice (within the first 24 hours) or can present later in childhood as anemia resulting from a hemolytic or aplastic crisis associated with viral infection. In addition to the shortage of red blood cells, splenomegaly, and jaundice, other symptoms of this disorder can include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Information concerning life expectancy for this disorder is limited.

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

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