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Study tracks worldwide spread of beneficial blood cell gene variant
Date:7/28/2014

Two beneficial variants of a gene controlling red blood cell development have spread from Africa into nearly all human populations across the globe, according to a new study led by King's College London. The international team studied the genomes of world populations to look for the origin of changes in a key regulator gene which stimulate fetal haemoglobin production into adulthood. Fetal haemoglobin is normally found in fetuses and infants, but some patients with inherited blood disorders who are able to keep making it as adults experience milder symptoms of their condition.

Sickle cell anaemia is an inherited blood disorder in which red blood cells behave abnormally and can clog blood vessels, leading to acute unpredictable painful spells called a sickle cell crisis which typically last a week. The recurrent sickle crises and chronic anaemia lead to serious complications in the joints, bones, lungs, eyes, brain, liver and kidneys, and early death. Thalassaemia is a group of inherited blood disorders where insufficient haemoglobin - the oxygen-carrier in blood cells - is produced, leading to anaemia. Symptoms of beta thalassaemia can range from moderate to severe, with the most severe form requiring blood transfusions for the rest of the person's life. The only 'cure' for both sickle cell anaemia and beta thalassaemia is a bone marrow transplant, but this option is only available to a small number of patients.

Studies have shown that carriers of these conditions are protected against malaria; having one copy of the sickle cell gene significantly increases your chances of surviving malaria. As a result, these blood disorders are more prevalent in parts of the world where malaria is common. However, sickle cell disease is rapidly emerging as a public health issue both globally and in the UK where it is the most common severe genetic disorder, affecting an estimated 13,000 people.

The new study, published in the Annals of Human Gen
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Contact: Jenny Gimpel
jenny.gimpel@kcl.ac.uk
44-020-784-84334
King's College London
Source:Eurekalert

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