Rh-null hemolytic anemia (RHN)

Definition:

Rh (Rhesus) null hemolytic anemia (RHN) is a rare autosomal recessive disorder characterized by an absence of Rh antigens and a varying degree of hemolytic anemia and spherostomatocytosis. The Rh protein family comprises Rh50 glycoprotein and Rh30 polypeptides, which form a complex essential for Rh antigen expression and erythrocyte membrane integrity. It is reported that RHN is caused by mutations of RHAG that encodes Rh50 glycoprotein.

References:

[1]. C H Huang, et al. The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease. J Biol Chem. 1998 Jan 23;273(4):2207-13. [Content Brief]

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