National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Rh deficiency syndrome


Other Names:
Rh-null syndrome
Categories:
The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome:[1]
  • The regulator type is associated with many different changes (mutations) in the RHAG gene . 
  • The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus.
As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner.[2] Management is individualized according to the severity of hemolytic anemia.[3]
Last updated: 2/4/2016

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Kleinman S. A primer of red blood cell antigens and antibodies. UpToDate. April 11, 2014; http://www.uptodate.com/contents/a-primer-of-red-blood-cell-antigens-and-antibodies.
  2. Huang CH, Chen Y, Reid ME & Seidl C. Rhnull disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background. Blood. July, 1998; 15;92(2):664-71.. http://www.ncbi.nlm.nih.gov/pubmed/9657769.
  3. Brugnara C. Stomatocytosis and xerocytosis. UpToDate. February 2, 2016; http://www.uptodate.com/contents/stomatocytosis-and-xerocytosis.