In recent years, a lot of attention has focused on a few debilitating diseases that affect millions of Americans.  Coordinated public and private efforts — including targeted biomedical research, awareness campaigns, and patient advocacy — have enabled us to make remarkable progress toward conquering many of these diseases.

But other, less prevalent diseases that are just as serious have received scant attention.    Sickle cell disease — a devastating 
genetic disorder that affects red blood cells — is such a disease, and  greater awareness and more resources are required if we are to defeat it.

September is National Sickle Cell Awareness Month, and many Americans have never heard of the disease or know little about it.  They are unaware that this disease – which creates oxygen-depleted red blood cells that become “sickle”-shaped and block small blood vessels – causes pain so severe that a flare up is often referred to as a “crisis.”  These sickle cell “crises” can lead to stroke, organ failure, and death. 

Experts estimate that between 70,000 and 80,000 Americans have sickle cell disease, and more than 1,300 babies are born with the condition each year.  Although sickle cell disease is a rare, it is by far the most common genetic blood disorder in this country. 

Unfortunately, the treatment of sickle cell disease has been hampered by too few resources and lack of information.

Health care providers must be familiar with the symptoms of sickle cell and be able to properly diagnose and treat the disease — especially in hospital emergency departments where patients frequently seek treatment during a pain crisis.  However, too many health care professionals have not received in-depth training about sickle cell disease. 

The lack of public information about the disease is also a problem.  Although virtually every state in America has screened newborns for sickle cell since 1986, most adults do not know their sickle cell trait status.   Individuals with sickle cell trait do not have the disease, but they carry a gene that increases their children's chances of having it.  In cases where both parents have sickle cell trait,   there is a 1 in 4 chance – with each pregnancy – that their child will have sickle cell disease. 

Awareness of one’s sickle cell trait status is perhaps the single most effective way to reduce the incidence of the disease.

Many sickle cell patients also require blood transfusion, and most patients do best if they can receive blood transfusions from genetically similar donors. Yet too few individuals of African, Latino, Mediterranean, and South Asian heritage — groups with the highest incidence of sickle cell disease – are aware that they can help sickle cell patients by donating their blood.

Finally, sickle cell’s challenges require greater leadership at the federal level, where national needs can be identified and effective national strategies can be developed.

Research supported by the National Institutes of Health (NIH) has led to the development of more effective newborn screening tools, the identification of blood transfusion as a way to reduce the risk of strokes, and an FDA-approved treatment that aids in the prevention of painful sickle cell episodes. 

Scientists believe that we are on the cusp of developing more accurate screening tools for sickle cell disease, personalizing therapies according to individuals’ profiles, and discovering actual preventions.  With increased resources, so much more is possible.

The Administration and Congress must work together if we are going to prevent or cure sickle cell disease.   We must build on the steps taken in previous Congresses and ensure that the NIH has the resources to build on promising sickle cell research projects.  We also must encourage additional support from public and private sources.  According to a 2006 Pediatrics article, only $1,000 per patient per year is spent on sickle cell disease research, an amount that pales in comparison to the funds devoted to other, better-known diseases.

During National Sickle Cell Awareness Month, we should begin to bridge the gap between need and results.  It is time to promote increased attention to sickle cell disease in our nation’s medical schools and academic medical centers so that health professionals are trained appropriately to diagnose and treat sickle cell patients.  We also need to put our money where it will get the best results – into more research and education about this devastating disease.