Sickle cell corrected with gene copy

Jan 16 2006

Scientists in the U.S. say they have found a way to use embryonic stem cells to correct the mutation that causes sickle cell disease in mice.

The study by scientists at the University of California, San Francisco, suggests the technique could allow people born with this genetic defect to live with few or no complications from their illness.

The inherited blood disorder only affects people of African, Mediterranean, Middle Eastern and Indian descent.

With sickle cell disease a genetic mutation causes red blood cells that carry oxygen through the body to become hard and pointed, which makes it difficult for the blood to circulate.

This causes anemia, lung damage and pain in the arms, legs, chest and abdomen.

In the study Y.W. Kan and his colleagues used embryonic stem cells carrying the sickle cell mutation and they replaced the mutated copy of the gene with a healthy copy.

The researchers eventually hope to be able to genetically alter human embryonic stem cells from a patient's own DNA and transplant them into the patient.

The study is published in Proceedings of the National Academy of Sciences.