Sickle cell traced back to one child… 7,300 years ago

14 March 2018 08:17

Research suggests the history of sickle-cell disease can be traced back to a mutation in one person

Research suggests the history of sickle-cell disease can be traced back to a mutation in one person

New research suggests the history of sickle-cell disease can be traced back to a mutation in one person - a development researchers hope will make treatment less complicated for the many people who suffer from the painful illness.

People suffering from sickle-cell disease usually contract it as a result of both parents having the gene mutation.

Symptoms include shortness of breath, strokes, vision problems and other severe complications.

7,300 years ago

In a study published on Thursday in the American Journal of Human Genetics, Daniel Shriner and Charles Rotimi from the Center for Research on Genomics and Global Health presented findings from analysing the genomes of nearly 3,000 people, 156 of whom had sickle cell.

The researchers say they traced the mutation back for 7,300 years, and found it started with just one child.

This child, according to the scientists, was born with a heightened immunity to malaria - a positive gene mutation to carry in sub-Saharan Africa.

However, if two people with this gene mutation have a child, the child has a 25% chance of contracting sickle cell disease.

Dr Rotimi said the results of the study will give doctors "a better understanding of how to classify sickle patients in terms of disease severity".

Once upon a time?

For decades scientists have wondered whether the mutation happened just once, or whether it happened at different times in different places.

Sickle cells were first found in the US in people of African origin, but they are also common in people from the eastern Mediterranean (particularly Greece), the Middle East and parts of Asia.

Researchers had been questioning where there was just a "once upon a time" or whether different groups of people - from Senegal, Cameroon, Benin and the Central African Republic.

But Dr Shriner and Dr Rotimi have found that the gene mutations from each area were so similar that they seemed to follow an exact pattern that was distributed by migrations of the Bantu people.

The Bantu, from West Africa, moved eastward and southward about 2,500 years ago.

Of the research findings, Dr Rotimi said: "The information that we have now seems to make it quite clear that the multiple origin is not supported."

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