Vel blood group
Small integral membrane protein 1 (Vel blood group antigen) | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Symbol | SMIM1 | ||||||
Chr. 1 p36.32 | |||||||
|
The Vel blood group is a human
Genetics
The Vel blood group is associated with the SMIM1 gene, which is located in the 1p36 region of
Epidemiology
The Vel-negative blood type is rare. The highest prevalence of Vel-negative blood has been reported in Sweden, where approximately 1 in 1200 individuals exhibit this phenotype.[5] Only about 1 in 3000 English people[8] and 1 in 4000 Southern Europeans are Vel-negative, and much lower rates have been reported in people of African and Asian heritage.[5]
Clinical significance
When exposed to Vel-positive blood through
Cases of anti-Vel causing
Autoimmune hemolytic anemia (a condition in which patients produce antibodies against antigens on their own red blood cells, leading to hemolysis)[9]: 956 involving auto-anti-Vel has been reported.[8]
Laboratory testing
An individual's Vel blood type can be determined by
Anti-Vel is a mixture of
History
The Vel blood group was first described in 1952 by Sussman and Miller,
In 1955, a further case was described [19] in which the blood of a woman who had suffered a transfusion reaction was incompatible with more than 1,000 donors, but not with the blood of the first Vel-negative patient.[5] This patient's antibody was the first example of an anti-Vel that could hemolyze red blood cells in vitro.[20] Six other individuals from three generations of this woman's family were found to be Vel-negative, but they did not exhibit an anti-Vel antibody, demonstrating that anti-Vel is not naturally occurring.[2] By 1962, 19 cases of anti-Vel and approximately 50 cases of Vel-negative patients had been described.[20]
Although the Vel blood group has been widely studied due to its significance in transfusion medicine, its genetic and molecular basis remained unclear for several decades.[12][14] In 2013, two research groups simultaneously identified the SMIM1 gene and its protein product as the determinants of the Vel blood group.[12][3][4] The Vel blood group was officially recognized by the International Society of Blood Transfusion in 2016.[7]
References
- ^ ISBN 978-0-8036-3793-1.
- ^ a b c d e f Kniffin CL (2013-05-30). "OMIM Entry # 615264 - BLOOD GROUP, VEL SYSTEM; VEL". Online Mendelian Inheritance in Man. Retrieved 2019-08-14.
- ^ S2CID 84328440.
- ^ PMID 23563608.
- ^ S2CID 37679614.
- S2CID 205346970.
- ^ PMID 29093749.
- ^ ISBN 978-1-118-49354-0.
- ^ ISBN 978-0-7817-6507-7.
- ISBN 978-1-4443-9617-1.
- ISBN 978-0-7216-0384-1.
- ^ PMID 23505126.
- S2CID 73413843.
- ^ S2CID 206354048.
- PMID 26732700.
- ISBN 978-0-08-047615-5.
- S2CID 46177290.
- PMID 13004554.
- PMID 14387975.
- ^ S2CID 41750570.