H. Elliptocytosis
Primary defect:
a
&
b
Spectrin:
Protein 4.1
30 – 40% Europeans & Arabians
Incidence:
1 in 2000 – 4000 Americans
Seen in all racial & ethnic groups
Mode of inheritance:
Autosomal dominance:
Clinical types:
Common HE
Spherocytic HE
Stomatocytic HE
Pyropoikilocytosis