Sickle Cell Anemia

“if I were a young man again and had to decide how to make my living,
I would not try to become a scientist. I would rather choose to be a peddler
in the hope to find that modest degree of independence still available under present circumstances.”
-Albert Einstein

It has been 47 years, and I still remember the screams, the shouting, the loud sobbing; the rage and utter desperation that came out of the mouth of the wife of one of my patients when I told her that he had died. It was not an unexpected outcome. Although he was in his early thirties, he had severe sickle cell anemia. He had suffered through years of painful crises, dead bones, horrendous chest syndromes, and a heart attack. He had been on a ventilator for two weeks, and all of the house officers had warned the family that he would not survive.

Plus: we were like family. He had somehow managed to function, at a high level, as one of our most trustworthy orderlies. She also worked in the hospital. Their two kids were known to everyone. Their extended family was always around whenever he had to be admitted. It’s not like she didn’t trust us.

Her outburst caught me by surprise. Later in life, as I developed an increasing number of close and intimate relationships, I began to understand how difficult it must have been for her to say that final good-bye. How she was probably clinging to a thread of hope in the face of the overwhelming odds against him.

One decision that I made after this experience: I would not become a hematologist. In those days there was little or nothing that one could do to help these patients. They begin to suffer in early childhood. By the time that they become adults many of them resemble victims of a devastating train wreck. I remembered her pain, and I decided that I couldn’t possibly cope with the degree of impotence that I experienced that evening.

Slowly, science began to dig into the sickle cell mystery. Linus Pauling was able to find out that the hemoglobin molecule in these patients was abnormal. One single amino acid in a very long protein chain was replaced by another one. This mutation was traced to a single defect in the DNA of sickle cell patients. The first disease that was fully explained by taking a look at genes. Dr. Pauling later won a Nobel Prize for his research.

There was further progress. Scientists began to understand why the red blood cells in sickle patients assumed their odd shape. This abnormality predisposed them to clump together and stick to vessel walls. This clogged up circulation, and caused pain or disability when the tissues downstream could not get any oxygen or nutrition.

Scientists from other parts of the world joined in. It became apparent that there were patients who had sickle cells, but did not suffer nearly as much as others. Other genetic traits were found that gave an advantage to the patients who possessed them. Eventually this finding led to a treatment that helped to considerably diminish complications from this disease in a large percentage of patients.

Still more progress was made in genetics. In Canada a hospital reported that they were able to cure the disease in a child by means of a stem cell transplant. Other medical centers are experimenting with less dramatic stem cell treatments. There are a few medicines under consideration that may help everyone without the considerable expense and risk that stem cell therapy involves.

Many obstacles remain, but for once, after hundreds of years of these people being doomed to eternal pain and disability, there is significant hope. We have to deal with the social issues: most of these patients are disabled, therefore poor. They often have no insurance, or no way to get to the frequent medical visits that they need to make. Almost all of them in this country are African-American, and even though no one likes to admit this, they suffer from prejudice and discrimination just because they’re poor and Black. Because of the almost constant pain that they must endure they are prescribed narcotics. I’ve seen many instances of doctors who refuse to believe that their pain is “real,” therefore their pain medicine refills are denied.

Difficult issues indeed. But there is hope. In the near future no young intern will have to hear the same screams that I heard.

We got to where we are because of research. At first there was no money to be made by trying to figure out the whys of a disease that affected mostly disenfranchised people. There was no immediate medical dividend to finding out the structure of an abnormal hemoglobin molecule. In the 1960’s no one had any inkling of what we’d be able to accomplish with gene therapy sixty years later.

Yet the research money was there. Just to do science; just to find out why this happens, in the absence of immediate tangible return. Yes; much of this knowledge seems relatively useless at the time. Many of these funds look like they were not wisely spent. Yes; there is waste, and there are scientists who are dishonest and publish results that they know full well are inaccurate.

But think of the hope that a new generation of children born with one errant gene will have. An opportunity to live and learn without pain, or strokes at age seven, or poverty.

An interesting aside: the doctor who came up with the name “sickle cell anemia” later on became a physician to the Hollywood elite. He treated Howard Hughes. Before Mr. Hughes died he was coaxed into establishing a foundation to stimulate research. Goodness went a full cycle.

I want to hear tens of thousands of screams like I heard from my friend years ago. This time I want them to come from all of you out there. I want you to hound your legislators and demand, in no uncertain terms, that they stop trying to cripple science and the people who choose it as a livelihood. This is not a negotiable matter. If we have to send a million people to our capital and have them all erupt into the Senate chambers, so be it. We have to stop appeasing ignorance.

Call now. Full funding for the NIH. More investigation into climate change. Extensive documentation of any ill effects that we suffer from the chemicals that surround us.

It’s for us. For our children. For our future together.

Do it now.