Rh deficiency syndrome

MedGen UID:: 75772
•Concept ID:: C0272052
•: Disease or Syndrome

Synonym:	Rh Deficiency Syndrome
SNOMED CT:	Rh deficiency syndrome (37272000)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0019107
OMIM®:	268150
Orphanet:	ORPHA71275

Definition

A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the <i>RHAG</i> gene), while the amorph type is due to mutations at the <i>RH</i> locus itself. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRh deficiency syndrome

Hereditary stomatocytosis
- Rh deficiency syndrome

Follow this link to review classifications for Rh deficiency syndrome in Orphanet.

Recent clinical studies

Etiology

Rh-deficiency syndrome.

Cartron JP
Lancet 2001 Dec;358 Suppl:S57. doi: 10.1016/S0140-6736(01)07069-6. PMID: 11784606

Molecular biology and genetics of the Rh blood group system.

Huang CH, Liu PZ, Cheng JG
Semin Hematol 2000 Apr;37(2):150-65. doi: 10.1016/s0037-1963(00)90040-4. PMID: 10791884

Molecular insights into the Rh protein family and associated antigens.

Huang CH
Curr Opin Hematol 1997 Mar;4(2):94-103. doi: 10.1097/00062752-199704020-00004. PMID: 9107525

Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency.

Cherif-Zahar B, Raynal V, Gane P, Mattei MG, Bailly P, Gibbs B, Colin Y, Cartron JP
Nat Genet 1996 Feb;12(2):168-73. doi: 10.1038/ng0296-168. PMID: 8563755

Structure and expression of the RH locus in the Rh-deficiency syndrome.

Chérif-Zahar B, Raynal V, Le Van Kim C, D'Ambrosio AM, Bailly P, Cartron JP, Colin Y
Blood 1993 Jul 15;82(2):656-62. PMID: 8329719

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Diagnosis

Extensive clinical, serologic and molecular studies lead to the first reported Rh(mod) phenotype in Argentina.

Mufarrege N, Franco N, Trucco Boggione C, Arnoni C, de Paula Vendrame T, Bartoli S, Ensinck A, Principi C, Lujan Brajovich M, Mattaloni S, Riquelme B, Biondi C, Castilho L, Cotorruelo C
Transfusion 2020 Jul;60(7):1373-1377. Epub 2020 May 6 doi: 10.1111/trf.15792. PMID: 32378229

In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.

Cambot M, Mazurier C, Canoui-Poitrine F, Hebert N, Picot J, Clay D, Picard V, Ripoche P, Douay L, Dubart-Kupperschmitt A, Cartron JP
Am J Hematol 2013 May;88(5):343-9. Epub 2013 Mar 15 doi: 10.1002/ajh.23414. PMID: 23417980

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