Sickle cell: one gene, many faces, and a quest for a cure

September is National Sickle Cell Awareness Month–a month selected to call attention to a life-long illness affecting around 100,000 Americans, the majority of whom are African American or Hispanic.

People living with sickle cell disease experience ongoing crises where cells block the blood stream, causing excruciating pain and damage to the organs and tissues, and a shorter lifespan.

While new developments in bone marrow and stem cell transplantation now offer the hope of a cure and a healthy life to sickle cell patients, many people of color have a hard time accessing treatment.

“As a doctor who treats sickle cell patients, I am all too familiar with the fact that history is still affecting the ways we approach medicine and treatment for all,” explained Ahmar Urooj Zaidi, M.D., a hematologist and sickle cell physician at Children’s Hospital of Michigan.

“One in 13 African Americans is born with the sickle cell trait and, unfortunately, there is no disease more intertwined with racism, prejudice and bias than sickle cell disease.”

The National Heart, Lung, and Blood Institute (NHLBI), a leader of federally funded research efforts on sickle cell disease, is actively exploring several safe and effective treatment options, and leading several initiatives designed to find a widely available cure for sickle cell disease.

One promising strategy that is being studied in a clinical trial–a study that tests how well a new medical approach works in people–is half-match bone marrow transplants.

The NHLBI also completed the Trans­cranial Doppler with Transfusions Changing to Hydroxyurea (TWiTCH) trial. The TWiTCH study found that daily treatment with hydroxyurea–an oral medicine to help reduce or prevent several complications of sickle cell disease–is as effective as blood transfusions at reducing blood flow velocities in the brain, a key risk factor for stroke.

Another area of promise for sickle cell disease treatment is gene editing, which involves changing the DNA.

NHLBI is also conducting early research using small molecule drugs. In one recent NHLBI-funded study, researchers found a small molecule that binds to hemoglobin and increases its ability to bind to oxygen; this could reduce sickling of red blood cells. However, this approach has not been tested in humans yet.

Sickle cell patients who participate in research studies are critical partners in discovering potential therapies and new approaches that improve understanding of sickle cell disease.

To find out more about how you or a loved one can participate in a clinical trial, go to clinicaltrials.gov and search sickle cell disease.