- Source: Rh deficiency syndrome
Rh deficiency syndrome is a type of hemolytic anemia that involves erythrocytes whom membranes are deficient in Rh antigens. It is considered a rare condition.
Signs and symptoms
Clinically, people with Rh deficiency show mild to moderate chronic hemolytic anemia with variable degrees of spherostomatocytosis.
Causes
The condition is caused by silent alleles at the RH locus (amorph type) or suppressor genes unrelated to the locus (regulator type) that individuals inherit in an autosomal recessive manner.
History
Vos originally described Rh-deficiency syndrome in 1961, when a sample of blood failed to respond with several Rh antisera. However, R. Ceppellini used the term "Rhnull" for the first time. So far, at least 43 people from 14 families have been reported in the literature as having the Rhnull phenotype.
See also
List of hematologic conditions
RHAG
References
Further reading
Huang, C.-H.; Cheng, G.-J.; Reid, M.E.; Chen, Y. (1999). "Rhmod Syndrome: A Family Study of the Translation-Initiator Mutation in the Rh50 Glycoprotein Gene". The American Journal of Human Genetics. 64 (1). Elsevier BV: 108–117. doi:10.1086/302215. ISSN 0002-9297. PMC 1377708. PMID 9915949.
External links
Kata Kunci Pencarian:
- Siklus menstruasi
- Besi
- Iodin
- Rh deficiency syndrome
- List of syndromes
- Androgen insensitivity syndrome
- Kallmann syndrome
- List of hematologic conditions
- Androgen deficiency
- Infant respiratory distress syndrome
- Bloom syndrome
- Laron syndrome
- Sjögren syndrome