Gene Behind Childhood Anemias Found

Dec. 5 -- THURSDAY, Dec. 4 (HealthDay News) -- Scientists have identified a gene mutation that inhibits the production of fetal hemoglobin and causes two life-threatening anemias -- sickle cell disease and thalassemia.

The finding could eventually lead to new treatments that could restore some hemoglobin production, turning these life-threatening diseases into manageable chronic conditions.

"We have identified a gene that directly silences the fetal hemoglobin gene," said lead researcher Dr. Stuart Orkin, an investigator at the Howard Hughes Medical Institute and Children's Hospital Boston. "The regulation of fetal hemoglobin is probably the most important modifier of the severity of sickle cell anemia and thalassemia."

Targeting that gene could be the key to treating both diseases, Orkin said.

"We now have a target that if we could modulate it directly, we could increase fetal hemoglobin and reverse the silencing and reawaken the fetal gene in an adult," Orkin said. "That would have tremendous therapeutic implications in both of those disorders."

While he does not see such treatment as a cure, "it would certainly be a very effective treatment," Orkin said.

The report was published in the Dec. 4 online edition of Science.

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In an earlier study, Orkin's team identified five gene variants involved in hemoglobin production and the severity of disease in 1,600 people with sickle cell anemia. They identified one variant that had the most effect on hemoglobin in a gene called BCL11A, located in chromosome 2.

In the current study, the researchers show that BCL11A directly blocks the production of hemoglobin. To prove the connection, Orkin's group blocked BCL11A, and red blood cells started producing large amounts of hemoglobin.

Hemoglobin is a protein in red blood cells that transports oxygen throughout the body. In sickle cell disease, there is an abnormality in hemoglobin that makes red blood cells stiff and sickle-shaped. In thalassemia, the ability to produce hemoglobin is severely compromised.