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Inequities in funding, research on Sickle Cell Disease

GLENN ELLIS | 4/24/2017, 8:28 a.m.
Remember a year ago when your friends were pouring buckets of ice-cold water over their heads in the name of ...
Channelle Allen, left, and her 11-year-old daughter, Tisha Allen, are shown outside of their home in Augusta, Georgia. Tisha has sickle cell anemia and undergoes regular blood transfusions for her disease. Andrew Davis Tucker of The Augusta Chronicle

Strategies for Well-Being

Remember a year ago when your friends were pouring buckets of ice-cold water over their heads in the name of science? In total, a whopping $220 million was raised from the challenge. It helped anywhere from 12,000 to 15,000 people in US who reportedly live with ALS.

But did you know that sickle cell anemia is the single most common life-threatening genetic disease in the United States? I sure didn’t.

Over 100,000 Americans suffer from sickle cell disease and it is a torturous, painful life to live. Yet, the funding and publicity of sickle cell disease lags drastically far behind that of virtually every other genetic illness.

People with sickle cell disease have a lower-than-normal number of red blood cells because sickle cells don’t live as long as normal cells after they leave the bone marrow. Sickle cells usually die after about 10 to 20 days, compared to normal red blood cells, which live an average of 120 days. The bone marrow can’t make new red blood cells fast enough to replace all the dying ones. This causes anemia, low blood count that results in pain, fatigue, shortness of breath and related symptoms

Sickle cell disease is inherited. Hemoglobin, the oxygen-carrying protein that is responsible for the red color of blood, is made of iron-containing heme and proteins called globins. People who have the disease inherit two copies of the globin gene that causes sickle cell disease. Those who live with the condition inherit a copy of the gene from each parent.

Contrary to popular belief, sickle cell disease is not a “Black disease.”

Sickle cell disease is most common in people whose families come from, or have ancestors from, sub-Saharan Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries (such as Turkey, Greece and Italy), India and Saudi Arabia.

However, Sickle cell disease occurs in approximately one out of every 500 African American births and one out of every 36,000 Hispanic American births. About 2.5 million people in the United States have sickle cell trait, which occurs when a person inherits one copy of the globin gene.

Research has helped patients live longer. In the 1970s, life expectancy for individuals with sickle cell disease was about 14 years. Today, many individuals live into their 40s and longer.

There is no “moonshot” for sickle cell. There are no “ice bucket challenges. Fewer than a dozen US labs are working all-out on sickle cell disease, a number that has stayed constant for years.

This is a disease that doesn’t get the attention or the funding it should. There’s a stigma that comes from thinking it affects only African Americans. People dismiss it by saying, “Oh, sickle cell patients just have pain.”

The mainstays of treatment are transfusions and a drug called hydroxyurea, an old drug approved by the FDA as part of some types of chemotherapy in 1967. It also is now the only FDA-approved therapy to prevent pain crises in SCD.

HU was approved for adults with SCD in 1998, 30 years after its approval for chemotherapy. There has been no commercial interest in developing a pediatric formulation, despite the need. The only curative treatment for SCD is bone marrow transplantation, which comes with high risks.