Blood Disorders and Public Health
America's public health system encompasses governments, healthcare providers, and others working to improve population health. The lack of a public health framework for many blood disorders, both rare and common, is a particular concern.
The public health system encompasses governments, healthcare providers, and others working to improve population health. The lack of a public health framework for many blood disorders, both rare and common, is a particular concern.
- For example, even a relatively common blood disorder such as venous thromboembolism (VTE), with a U.S. prevalence of at least 1 million people, lacks an established mechanism for surveillance. Little is definitively known about the magnitude of the public health burden of VTE. Although VTE is an important cause of mortality and may account for more than 100,000 deaths per year, fewer than 40,000 deaths associated with VTE are recorded each year in vital records. That underestimate reflects in part the low use of autopsies, which are required to detect many fatal pulmonary emboli.
- Hereditary hemochromatosis is a genetic disorder present in about 1 million Americans, although few individuals at any point in time have symptomatic iron overload disease. The opportunity to detect iron overload at an early stage and intervene through therapeutic phlebotomy to prevent the development of clinical disease, specifically liver cirrhosis and cancer, remains a challenge.
- At least 3 million Americans have sickle cell trait. They are carriers of the sickle cell gene mutation, also known as Hb AS, but the extent to which the carrier status poses health threats is not well established.
- In the U.S., rare diseases are defined as disorders affecting fewer than 200,000 people (about 1 in 1500 people), although in the European Union, the cutoff is a prevalence of 1 in 2000 people. Medications that are targeted to rare diseases are known as orphan drugs. The rare blood disorders considered in the remaining papers in this supplement are bleeding or coagulation disorders, the most common of which are hemophilia A and B, and the hemoglobinopathies: sickle cell disease and thalassemia.
- Globally, sickle cell disease and thalassemia are not rare, with more than 300,000 affected births each year. In the U.S., it is estimated that perhaps 100,000 people live with sickle cell disease and a few thousand with clinically noteworthy thalassemia.
We propose a framework for public health to address rare conditions that affect relatively small numbers of people and are often neglected in public health programs.
Blood disorders have a vital importance to public health and vice versa. 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. Public health systems are responsible for the assessment of the frequency and seriousness of these conditions, the appropriateness of screening tests and preventive services, and barriers to access evidence-based services. Public health professionals should be involved in activities to inform and influence policy development in order to ensure access to cost-effective services that improve health outcomes. Public health is not just about intervening to reduce the burden of common diseases and exposures but also about giving appropriate attention to the needs of people with rare disorders.
Grosse SG, James AH, Lloyd-Puryear MA, Atrash HK. A Public Health Framework for Blood Disorders. Am J Prev Med 2011; 41(6S4): S319–S323.
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