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Making Rare Blood Disorders a Public Health Issue

December 8, 2011
Blood cells, courtesy NIH

Photo courtesy

Our December supplement makes the seemingly counterintuitive argument that rare diseases, including a number of blood disorders, should be ranked as a public health concern.

But as Scott D. Grosse, PhD, of the Centers for Disease Control and Prevention and colleagues make clear in their introductory essay in the supplement, “a public health framework is needed to address public health services and functions for all rare disorders, including blood disorders, regardless of the incidence or prevalence of a given disorder.”

Indeed, note Grosse and co-authors Andra H. James, MD, of Duke University, Hani K Atrash, MD, MPH, of the CDC, and Michele A. Lloyd-Puryear, MD, PhD, of the National Institutes of Health, it’s a particular concern that even relatively common blood disorders fly below the public health system’s radar, meaning there is no established mechanism for surveillance.

For example, they say, venous thromboembolism has a U.S. prevalence of at least 1 million people, but “little is definitively known about the magnitude of [its] public health burden.” Hereditary hemochromatosis is a genetic disorder present in about 1 million Americans, but “the opportunity to detect iron overload at an early stage and intervene … to prevent the development of clinical disease … remains a challenge,” they add. And although at least 3 million Americans have sickle cell trait or are carriers of the sickle cell gene mutation, “the extent to which the carrier status poses health threats is not well established.”

Of course, as Grosse and colleagues reminded us, some of the disorders discussed in this supplement are considered rare in the U.S. and Western Europe but not on a global basis. Sickle cell disease and thalassemia, for example, are seen in 300,000 births a year and are common in sub-Saharan Africa and much of Asia. Thus, the need for a public health perspective for such disorders is essential.

Grosse and colleagues offer a public health framework for rare diseases, including blood disorders, based on an adaptation of essential services for public health generally, including surveillance, assessment of the health status of those affected and their need for services, research, screening, education, access, evaluation of the effectiveness of services provided to those affected, and better methods for informing the policymaking process.

“Whether relatively common or relatively rare, people with blood disorders have health challenges specific to their conditions that require knowledgeable healthcare providers, access to screening and diagnostic testing, and information to help them manage their conditions,” the researchers conclude. “Public health is not just about intervening to reduce the burden of common diseases and exposures.”

What’s Your Take?

With all of the issues the public health system must address, how can we insure that blood disorders don’t fall through the cracks, either domestically, where many of those noted in our supplement are rare, or globally, where they can be far more common but public health infrastructure and resources are often stretched painfully thin?

Post a comment below or send your thoughts to

— Bill Silberg, AJPM Editor-at-Large

2 Comments leave one →
  1. C. William Keck permalink
    December 9, 2011 3:34 pm

    The lack of a public health approach to blood disorders in the United States is just one of many examples of opportunities lost to improve health status. Our separation of the illness and injury care industry from the public health “system,” with preferential funding of the former, makes it very difficult if not impossible for public health agencies and communities to mount disease-specific interventions beyond those for which they already have funding and expertise. The public health agenda continues to expand as resources steadily decline.

    Of course, that doesn’t change the fact that designing a “system” to actually improve health should be a major priority. Some first steps are under way under the auspices of the Patient Protection and Affordability Care Act signed into law by President Obama in March 2010. However, until we are able to realize full integration of the philosophies and services of illness care and public health, we will continue to find examples of health issues handled less well than they should be on both a population and personal level.

    C. William Keck, MD, MPH
    AJPM Blog Contributing Editor

  2. December 9, 2011 12:36 pm

    Most of what needs to be said about venous thromboembolism prevention has already been said. It is time for action. In 2008, the U.S.Surgeon General published the landmark “Call to Action to Prevent Deep Vein Thrombosis and Pulmonary Embolism.” The report very nicely summarizes (Section IV, pages 26–32) the key activities needed by three main groups—(1) communities, (2) the healthcare system, and (3) policymakers and government—to decrease morbidity and mortality from deep vein thrombosis and pulmonary embolism. Each of the three groups was provided with a clear mission and suggestions for actions to pursue that mission and ways to evaluate progress. All of that is rendered in easy-to-read, succinct language. The paper is a great resource and a clear marching plan. Individuals and organizations can get involved in a large variety of areas. Pick one or two and get started!

    Stephan Moll, MD, Department of Medicine, Hemophilia and Thrombosis Center, Clot Connect Program, University of North Carolina School of Medicine, Chapel Hill, NC.

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