Prevalence Rate of Undiagnosed Diamond-Blackfan Anemia (IBMFS) among Patients with Congenital Heart Disease (11-330B)

Protocol ID

11-330B

Protocol Description

The purpose of this research is to learn about the association between congenital heart disease and inherited bone marrow failure syndromes, specifically Diamond Blackfan Anemia (DBA). It has been found in previous studies that there are several congenital heart diseases associated with DBA including: ventricular septal defects, atrial septal defects, coarctation of the aorta, tetralogy of Fallot, and other complex cardiac anomalies. In this study a sample of blood will be taken to measure the size of the red blood cells, determine fetal hemoglobin levels, and eADA activity. One or more of these three factors have been shown to be elevated in most cases of DBA. With this research it may improve our understanding of bone marrow failure disease and hopefully lead to eventual development of effective treatments or therapies.

Eligibility Criteria

Anyone above the age of 6 months that has been diagnosed with a congenital heart disease

Primary Investigator(s)

  • Diana Osorio, MD

Contact Information

Jeffrey Lipton, MD
(718) 470-3460
jlipton@nshs.edu

Last Update

November 23, 2011
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