Hereditary elliptocytosis pathophysiology

Hereditary elliptocytosis Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Pathophysiology

Genetics

Being an almost wholly autosomal dominant disorder, there is no predilection towards either sex in hereditary elliptocytosis. The most important exception to this rule of autosomal dominant inheritance is for a subtype of hereditary elliptocytosis called hereditary pyropoikilocytosis (HPP). This condition is autosomal recessive.

Figure 1 - A pedigree showing the typical inheritance pattern of an autosomal dominant trait.