Medical researchers are developing a new surveillance system to determine the number of patients diagnosed with inherited blood disorders known as hemoglobinopathies. NIH’s National Heart, Lung, and Blood Institute (NHLBI) is funding the four year pilot project along with CDC and six state health departments to learn more about the extent of hemoglobinopathies in the U.S.
Hemoglobinopathies can cause problems with hemoglobin which if abnormal can cause sickle cell diseases and hemoglobin E, or too little hemoglobin can cause organ damage and shorten the lifespan. While all states now test newborns for some of these diseases, there is no system presently to track the diseases nationally. In addition, patients born before the screening program began or immigrated to the U.S are not tracked.
Through the initial phase of the program, researchers hope to determine the prevalence of the hemoglobinopathies among screened newborns and patients not identified through newborn screening. The data should help determine the prevalence of various conditions and help to describe the demographic characteristics of individuals with these conditions as well as their geographic distribution.
Data collected from the $27 million “Registry and Surveillance System in Hemoglobinopathies” project will help researchers determine the most effective way to develop future homoglobinopathy registries. Research findings based on the data from disease registries may provide new ideas for drug therapies and possibly spur the development of tests to determine the severity of diseases over the lifespan.
To work with the states, NHLBI has signed an interagency agreement with CDC’s National Center on Birth Defects and Developmental Disabilities. As part of the project, CDC set up cooperative agreements to create surveillance programs with state health departments in California, Florida, Georgia, Michigan, North Carolina, and Pennsylvania.