Rh deficiency syndrome
| Rh deficiency syndrome | |
|---|---|
 | |
| Rh deficiency syndrome is inherited in an Autosomal recessive manner. | |
| Specialty | Hematology  |
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.[1]
Signs and symptoms
[edit]Clinically, people with Rh deficiency show mild to moderate chronic hemolytic anemia with variable degrees of spherostomatocytosis.[2]
Causes
[edit]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.[3]
History
[edit]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.[4]
See also
[edit]References
[edit]- ^ Chérif-Zahar B, Raynal V, Le Van Kim C, D'Ambrosio AM, Bailly P, Cartron JP, Colin Y (1993). "Structure and expression of the RH locus in the Rh-deficiency syndrome" (PDF). Blood. 82 (2): 656–62. doi:10.1182/blood.V82.2.656.656. PMID 8329719.
- ^ Nash, R.; Shojania, A. M. (1987). "Hematological aspect of Rh deficiency syndrome: A case report and a review of the literature". American Journal of Hematology. 24 (3). Wiley: 267–275. doi:10.1002/ajh.2830240306. ISSN 0361-8609. S2CID 32655603.
- ^ Cartron, Jean-Pierre (2001). "Rh-deficiency syndrome". The Lancet. 358. Elsevier BV: S57. doi:10.1016/s0140-6736(01)07069-6. ISSN 0140-6736.
- ^ Shahverdi, Ehsan; Morady Moghaddam, Mostafa; Abolghasemi, Hassan (1 July 2018). "First Report of Known Rare Rhnull Phenotype Individuals in Iran". International Journal of Hematology-Oncology and Stem Cell Research. 12 (3): 181–184. PMC 6305262. PMID 30595819.
Further reading
[edit]- 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.