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Disease Profile
Rh deficiency syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
No data available
ICD-10
D58.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Rh-null syndrome
Categories
Blood Diseases; Congenital and Genetic Diseases
Summary
The Rh deficiency
- The regulator type is associated with many different changes (
mutations ) in the RHAGgene . - 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
Learn more
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.
References
- Kleinman S. A primer of red blood cell antigens and antibodies. UpToDate. April 11, 2014; https://www.uptodate.com/contents/a-primer-of-red-blood-cell-antigens-and-antibodies.
- 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.. https://www.ncbi.nlm.nih.gov/pubmed/9657769.
- Brugnara C. Stomatocytosis and xerocytosis. UpToDate. February 2, 2016; https://www.uptodate.com/contents/stomatocytosis-and-xerocytosis.