Mystery of last blood group solved

Albers, Kees

In collaboration with researchers from the UK, Amsterdam and Groningen, Dr. Kees Albers has discovered the gene for a blood group that has remained a mystery for 60 years.

The researchers showed that a genetic deletion in the SMIM1 gene is responsible for the absence of this blood group, the Vel blood group. About 1 in 5000 individuals are Vel-negative. It is now possible to develop a DNA-test that can identify more reliably individuals who do not have this blood group. This reduces the risk of destruction of red blood cells after blood transfusion of Vel-negative patients carrying antibodies against the Vel blood group. Such transfusion reactions can result in kidney failure or even death. A large genetic association study in more than 70,000 individuals by the Groningen team showed that the SMIM1 gene influences red blood cell traits such as the haemoglobin concentration. The genetic basis of the other 33 blood group systems has been resolved in the past decades, but until now scientists had been unable to identify the gene underlying the Vel blood group.red bloodcells http://www.ncbi.nlm.nih.gov/pubmed/23563608

 

 


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