RHCE gene related symptoms and diseases

All the information presented here about the RHCE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RHCE gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Jaundice Very Common - Between 80% and 100% cases
Hemolytic anemia Very Common - Between 80% and 100% cases
Stomatocytosis Very Common - Between 80% and 100% cases
Hyperbilirubinemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RHCE gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Unconjugated hyperbilirubinemia
  • Increased red cell osmotic fragility
  • Compensated hemolytic anemia
  • Spherocytosis
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Rare diseases associated to RHCE gene

Here you will find a list of rare diseases related to the RHCE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RH DEFICIENCY SYNDROME


Alternate names

RH DEFICIENCY SYNDROME Is also known as rh-null hemolytic anemia, regulator type, rh-null disease, regulator type, rh-null syndrome

Most common symptoms of RH DEFICIENCY SYNDROME

  • Anemia
  • Jaundice
  • Hemolytic anemia
  • Hyperbilirubinemia
  • Stomatocytosis


More info about RH DEFICIENCY SYNDROME

SOURCES: ORPHANET OMIM

RH-NULL, AMORPH TYPE; RHNA


Description

The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Two RH-null types, the regulator type (OMIM ) and the amorph type, arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene (OMIM ). The amorph type arises from mutations at the RH locus itself that silence Rh expression. The RH locus contains the RHD (OMIM ) and RHCE genes tandemly arranged at chromosome 1p36-p34. Four genes must therefore be silenced to produce the RH-null phenotype. The absence of the D antigen, produced by the RHD gene, is common in the human population; the D-negative phenotype may result from deletion or genetic alteration of the RHD gene. The RH-null amorph phenotype thus arises from inactivating mutations in RHCE on a D-negative background (summary by Huang et al., 1998, Huang et al., 2000).Clinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Rh-null patients rarely develop antibodies without stimulation, and most cases occur in response to pregnancy or transfusion (Silvy et al., 2015).

Most common symptoms of RH-NULL, AMORPH TYPE; RHNA

  • Anemia
  • Jaundice
  • Hemolytic anemia
  • Spherocytosis
  • Stomatocytosis


More info about RH-NULL, AMORPH TYPE; RHNA

SOURCES: OMIM


Potential gene panels for RHCE gene

RhE/e Antigen Genotyping Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the RHCE gene.

More info about this panel

RhC/c Genotyping Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the RHCE gene.

More info about this panel

Red Cell Genotyping Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti Red Cell Genotyping Panel that also includes the following genes: RHCE RHD SLC14A1 ACKR1 GYPA GYPB KEL BCAM ART4

More info about this panel

RHCE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RHCE gene.

More info about this panel


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