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Beneficial Blood Cell Gene Variants Spreading Worldwide

Update Date: Jul 29, 2014 10:35 AM EDT
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Two beneficial variants of a gene that controls red blood cells development have spread from Africa into nearly all human populations across the globe, according to a new study. 

Researchers studied the genomes of world populations to look for the origin of changes in a key regulator gene which stimulates fetal hemoglobin production into adulthood. Fetal hemoglobin is generally found in fetuses and infants. However, some patients with inherited blood disorders who are able to keep making it as adults, experience milder symptoms of their condition, the press release added.

"Patients who have milder versions of blood disorders, thanks to their ability to keep producing fetal haemoglobin, carry genetic clues that are helping us to understand the function of the genes and biological pathways involved in these diseases," Dr Stephen Menzel, co-author from the Department of Molecular Haematology at King's College London, said in a press release. 

The study also explored genetic factors that can reduce the severity of such blood disorders. 

"King's Health Partners cares for the largest cohort of sickle cell patients in the UK, with an estimated 2,500 patients. Although a newborn in the UK can now expect to live to adulthood, in adults the disorder has evolved into a chronic debilitating disease with acute or chronic pain and organ complications. We hope our research will help to develop biomarkers and ultimately, preventative treatments for inherited blood disorders," added Professor Swee Lay Thein, co-author and Consultant Haematologist at King's College Hospital NHS Foundation Trust in the press release. 

The study is published in the Annals of Human Genetics.

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