A new method for diagnosing sickle cell disease has been found by researchers from Cambridge and Oxford Universities. This new test would be cheaper and easier to use than existing methods and provide a simpler alternative for use in developing nations.
A new method for diagnosing sickle cell disease has been found by researchers from Cambridge and Oxford Universities. This new test would be cheaper and easier to use than existing methods and provide a simpler alternative for use in developing nations.
Early detection in babies could help families be better prepared to manage the condition.
Dr John Gibson
Sickle cell disease is an inherited disorder that affects red blood cells. Each year 200,000 infants are born with sickle cell disease in Africa while the condition affects 15,000 people in the UK.
Normal red blood cells contain haemoglobin A, a protein that helps red blood cells carry oxygen around the body, but sickle cell sufferers carry an alternative form of the protein, haemoglobin S. This change causes the red blood cell to adopt a new, inflexible, shape, similar to a sickle, meaning that they can no longer fit through the body's small blood vessels.
These sickle cells can then stick to the blood vessels, blocking the flow of blood to organs and leading to extreme periods of pain for the sufferer. These sickle cells are also destroyed more quickly in the blood compared to normal blood cells, resulting in anaemia.
The research team have discovered that deoxygenated sickle cells, unlike normal red blood cells, allow sugars into the cell when placed in certain solutions. This causes the cells to break open and release haemoglobin, which could be used to indicate the presence of sickle cells and ultimately the development of a simpler diagnostic test.
Dr John Gibson, from the Department of Veterinary Medicine and one of the lead researchers, said: "This research could have a significant impact on people with sickle cell in two ways: Our findings could result in a simple test to diagnose sickle cell based on whether red blood cells absorb sugars. This would be particularly important in pregnancy as mothers with sickle cell tend to be anaemic and have more sickling crises, which could be life-threatening to the baby. As the test is simple and likely to be inexpensive, it could be used to diagnose the condition in developing countries that don't have the resources for expensive tests. Early detection in babies could help families be better prepared to manage the condition."
It is thought that the abnormalities in the S haemoglobin lead to changes in the permeability of the red blood cell membrane causing the cells to shrink. This research has lead to a greater understanding of the mechanisms and pathways by which sickle cells lose salts and water and become dehydrated. This research could also lead to the development of drugs to block this pathway and hopefully reduce both the number of sickle cells in the blood and crises.
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