elliptocytosis type 1

Genetics

• associated with defects in EPB41
• Rhesus-linked form of hereditary elliptocytosis
• genetically heterogeneous
• autosomal dominant

Clinical manifestations

• variable hemolytic anemia

Laboratory

• peripheral blood smear: elliptocytosis

More general terms

• elliptocytosis
• genetic disease of the blood/bone marrow

Database

• OMIM: https://mirror.omim.org/entry/611804