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Sickle cell disease, discovered 106 years ago, still afflicts African Americans

By Glenn Ellis
On September 9, 2016

Glenn Ellis

( – September is National Sickle Cell Awareness Month. First officially recognized by the federal government in 1983, National Sickle Cell Awareness Month calls attention to sickle cell disease (SCD), a genetic disease.

Most people who are diagnosed with sickle cell anemia are African Americans. And about one in every 365 African-American children are born with it. Sickle cell disease is a blood disorder that's inherited – meaning it's passed down from parents to their children. Babies are born with sickle cell disease when they inherit two abnormal genes (one from each parent). These genes cause the body's red blood cells to change shape.

It's a chronic disorder causing pain in the extremities and back, infections, organ failure and other tissue damage, skin infections, loss of eyesight, severe blood clots and strokes.

Normal red blood cells are shaped like discs or donuts with the centers partly scooped out. They are soft and flexible so they can easily move through very small blood vessels and deliver oxygen throughout a person's body.

Sickle cells are stiffer. Instead of being disc shaped, they're curved like crescent moons, or an old farm tool known as a sickle. That's where the disease gets its name.

While sickle cell disease primarily affects persons of African descent, it is also present in Portuguese, Spanish, French Corsicans, Sardinians, Sicilians, mainland Italians, Greeks, Turks and Cypriots. Sickle cell disease also appears in Middle Eastern countries and Asia.

The disorder we call “sickle cell disease” often abbreviated as SCD, had been present in Africa for at least five thousand years and has been known by many names in many tribal languages. What we call its “discovery” in 1910 occurred, not in Africa, but in the United States. A young man named Walter Clement Noel from the island of Grenada, a dental student studying in Chicago, went to Dr. James B. Herrick with complaints of pain episodes, and symptoms of anemia. Herrick was a cardiologist and not too interested in Noel’s case so he assigned a resident, Dr. Ernest Irons to the case. Irons examined Noel’s blood under the microscope and saw red blood cells he described as “having the shape of a sickle.” When Herrick saw this in the chart, he became interested because he saw that this might be a new, unknown, disease. He subsequently published a paper in one of the medical journals in which he used the term “sickle shaped cells.”

Originally from Africa and brought to the Americas by the forced immigration of slaves, it is more frequent where the proportion of African descendants is greater. Carriers of the sickle cell trait have some resistance to the often-fatal malaria. This is why it is found more frequently in persons of Middle Eastern, Indian, Mediterranean and African heritage because those geographic regions are most prone to malaria.

However, in areas such as the U.S., where malaria is not a problem, the trait no longer provides a survival advantage. Instead, it poses the threat of sickle cell disease, which occurs in children of carriers who inherit the sickle cell gene from both parents.

There are several types of sickle cell disease, and the most common one is sickle cell anemia. It makes you feel tired, because your blood cells don't last as long as other people's do.

Normally, red blood cells live about 120 days. New ones that replace them are made in the soft, spongy center of your bones called the marrow. If you have sickle cell anemia, your red blood cells start dying after only 10 to 20 days. Your bone marrow can't replace them fast enough, which causes anemia. Red blood cells carry oxygen around your body, which gives you energy. If you don't have enough of them, you'll get tired and you might also feel short of breath.

SCD patients learn to function in a constant state of pain and when that pain becomes debilitating, they often end up in the emergency room. What brings people to the emergency room is called a crisis; in which the blood can’t deliver oxygen to the extremities. It is a sudden onset of severe, excruciating pain, which people describe as feeling as if all their bones are breaking. The pain is so bad and sudden that people require high doses of opioids.

Racism and the disease stigma itself are two barriers that you just can’t get away from. Clearly we can’t pretend that racism doesn’t play some part in this. If this were a White disease, people still wouldn’t be dying in their forties. That’s the bottom line. Sickle cell was “discovered” 106 years ago and there is only one drug, hydroxyurea, and blood transfusions to treat it.

There has been progress in sickle cell disease. People didn’t used to live to be adults. Kids would die of stroke or of really bad infections before they were 20, and in some countries they still do.

Remember, I’m not a doctor. I just sound like one.

Take good care of yourself and live the best life possible!

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