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Therapeutic Areas: Hematology | Family Medicine
Disease Category: Anemia
Location: United States, NY
Entrance into the International Fanconi Anemia Registry (IFAR)
To obtain clinical and genetic information on patients with this
heterogeneous disorder, in order to learn how to optimize growth
and development of affected children, and to increase our
understanding of this rare syndrome.
Patients affected with Fanconi anemia will be admitted to The
Rockefeller University Hospital for 3-5 days. They will receive a
complete physical examination and drawing of blood for various
laboratory studies. Consultations with subspecialists in genetics,
hematology, endocrinology, gastroenterology, neurology,
dermatology, etc. will be obtained as warranted. Genetic counseling
and dietary instruction will be provided. Since growth failure
associated with endocrine abnormalities is one of the most common
findings in FA, and one of the least studied, we will evaluate
patients for growth hormone, glucose metabolism, thyroid function,
adrenal function and pubertal function.
CW ID: 23169
Date Last Changed:
July 25, 2013
Agata Smogorzewska, M.D., Ph.D.The Rockefeller University Hospital1230 York AvenueNew York, NY 10065Phone: (212) 327-7850
Research Center Information: The Rockefeller University Hospital
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