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Patients with sickle cell disease may suffer from frequent and severe pain or they might have a mild form of this disease; symptoms vary greatly and are not easily predictable. But now, research led by Guillaume Lettre, PhD, a researcher in the lab of Joel Hirschhorn, MD, PhD, in Endocrinology at Children's Hospital Boston, and Vijay Sankaran, an MD-PhD student in the lab of Stuart Orkin, MD, in Hematology/Oncology at Children's, have found five new gene variants that may prove useful in predicting sickle cell disease severity.
These variants influence the levels of fetal hemoglobin, which are high at birth but gradually decline as the switch is made to adult hemoglobin. Past research at Children's showed that in sickle cell disease, the more fetal hemoglobin is retained, the more benign the patient's symptoms.
Dr. Lettre describes this study as a first step toward an improved understanding of fetal hemoglobin regulation in sickle cell patients, while cautioning that the clinical usefulness of these variants has yet to be validated. An eventual understanding of the factors behind varying fetal hemoglobin levels could allow doctors to ameliorate the pain crises and other severe symptoms of sickle cell disease, and pave the way for better, more targeted therapies in the future. The researchers reported their findings in the August 19 issue of the Proceedings of the National Academy of Sciences.
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