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Final chapter to 60-year-old blood group mystery
Date:4/7/2013

haemoglobin level confers a risk of anaemia, which is one of the most frequent reasons for an individual to visit their doctor. The team are pursuing further research to deduce how Smim1 protein regulates red blood cell formation.

"As the molecular machinery underlying red blood cell formation has been researched for decades in fish, mice and man, our discovery that a gene which was considered hypothetical until recently actually controls a red blood cell membrane protein with an important role in the regulation of haemoglobin levels is astonishing," says Professor Ellen van der Schoot from the Sanquin research laboratories in Amsterdam. "A better understanding of how the SMIM1 gene is regulated is important and this effort will greatly benefit from the Blueprint project which will be releasing its results on the biology of blood cells and their precursors this year."

"We have worked for nearly a decade to identify the donors across England that lack the Vel blood group so that we can provide matched and safe blood to patients with antibodies against Vel" says Mr Malcolm Needs from NHS Blood and Transplant in Tooting, London. "The discovery of the SMIM1 gene was achieved so quickly and it is truly amazing to see how medical genomics is changing the care landscape for NHS patients."


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Contact: Aileen Sheehy
press.office@sanger.ac.uk
44-012-234-96928
Wellcome Trust Sanger Institute
Source:Eurekalert

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