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Disorders of the red cell membrane 

Disorders of the red cell membrane
Chapter:
Disorders of the red cell membrane
Author(s):

Patrick G. Gallagher

DOI:
10.1093/med/9780199204854.003.220510

July 30, 2015: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

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date: 18 December 2017

The integrity of the red-cell membrane depends on molecular interactions between proteins and protein–lipid interactions: vertical interactions stabilize the membrane lipid bilayer; horizontal interactions provide resistance against shear stress.

This disorder affects 1 in 25 000 individuals of northern European descent. There is typically a dominant family history, but the condition is genetically heterogeneous: combined spectrin and ankyrin deficiency is the most common defect observed, followed by band 3 deficiency, isolated spectrin deficiency, and protein 4.2 deficiency. These affect vertical membrane interactions with loss of surface area relative to red-cell volume....

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