Researchers at NIH's National Heart, Lung and Blood Institute have identified genetic risk factors for acquired aplastic anemia that affect both the immune response and hematopoietic cell number and function.

The class II histocompatability antigen HLA-DR2 is more prevalent in Asian and Western patients and may correlate with responsiveness to immunosuppressive therapies. Alterations in certain cytokine genes were found to be more prevalent among bone marrow failure patients.

More recently, genetic studies have been performed of families of patients who had apparently acquired aplastic anemia as adults and lacked the physical abnormalities or a family history typical of inherited forms of bone marrow failure. Multiple pedigrees were defined in whom patients and relatives had mutations in genes called TERC and TERT.

These genes are of critical importance in telomere repair: telomeres are the caps at the end of chromosomes that shorten with each cell division. Telomeres and telomere repair are fundamental to cell senescence, to aging in general, and to the development of cancer. These results provide a link between a basic biologic process and the failed bone marrow, and their identification in individual patients profoundly affects treatment and outcome.

Genetic Risk Factors for Bone Marrow Failure
Neal S. Young, M.D., National Heart, Lung and Blood Institute, Bethesda, MD.
Wednesday, Oct. 19, 10:30 AM

The Bone Marrow Failure Scientific Symposium is presenting the latest advances in aplastic anemia, myelodysplastic syndromes (MDS), paroxysmal nocturnal hemoglobinuria (PNH) and other bone marrow failure diseases. This is the first international meeting covering all bone marrow diseases--life-threatening conditions for which, in most cases, the cause is unknown.

New research on stem cell transplantation, immunosuppressive treatments, drug therapies and alternative approaches will be presented by the world's leading physicians on bone marrow failure diseases.

New studies unveiled at bone marrow failure symposium will be presented at the Bone Marrow Failure Scientific Symposium Oct. 18-19, L'Enfant Plaza Hotel in Washington, DC. Organized by the Aplastic Anemia & MDS International Foundation, Inc. (AA&MDSIF), the symposium is sponsored by the National Institutes of Health, including the Office of Rare Diseases, the National Heart, Lung and Blood Institute and the National Cancer Institute.

Brian Ruberry
brallhealthpr
Aplastic Anemia & MDS International Foundation
aplastic