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Daily Archives: May 18, 2010

Sickle Cell Disease and Death

Bennie Abram had a promising football career at the University of Mississippi. Until he was felled by his genetics. The 20-year-old junior was going through conditioning workouts when he suddenly collapsed and died. His autopsy has now been completed and the medical examiner has attributed his death to sickle cell disease.

Sickle cell disease occurs predominantly in those with an African ancestry. There is some evidence that this is the case because this genetic abnormality might afford some protection against malaria that is so common in the African continent. Regardless, it is not a rare problem in Americans of African descent.

So what is sickle cell disease?

It is a problem of hemoglobin, which is the molecule within our red blood cells (RBCs)that carries oxygen (O2) from the lungs to the tissues and brings carbon dioxide (CO2) from the tissues back to the lungs. It is essential for life. The type of hemoglobin that we have depends upon our genetic makeup. Our genes and our chromosomes are paired and we receive one of each pair from each of our parents. Normal hemoglobin is called hemoglobin A. The normal individual will receive a hemoglobin A gene from each parent and therefore his genetic makeup, as far as hemoglobin production is concerned, would be called AA.

Abnormal hemoglobin of the sickle variety is designated as S. An individual who received one normal hemoglobin gene and one sickle hemoglobin gene would then have a genetic profile designated as SA. A person who received a sickle gene from both parents would have no hemoglobin A but only hemoglobin S genes and would be designated SS.

Sickle cell disease comes in two varieties: Sickle Cell Anemia and Sickle Cell Trait. The former is associated with SS hemoglobin and is more severe than the latter which is associated with an SA genetic pattern. Sickle Cell Trait is the milder form of the disease and has fewer symptoms and fewer medical problems than someone with full blown Sickle Cell Anemia.

In sickle cell disease the red blood cells will often take on a sickled form in that they look like crescent moons. They are not round and plump like normal red blood cells but rather take on this unusual form and it is the physical shape of the red blood cells that causes the problems. These sickled cells can plug up blood vessels and block blood flow, which can then lead to ischemia — a big word meaning poor blood supply — in the organs affected. This could be the spleen and indeed the spleen can die and lead to a medical crisis where it would has to be removed are emergent basis. It can lead to plugging of vessels to the heart, the lungs, the kidneys, the liver, the joints, the gastrointestinal tract, and the brain. This can lead to extreme pain in the joints and even death from a heart attack or stroke. It can lead to severe kidney and liver damage and to an infarction (death of tissue due to lack of blood supply) of the bowel.

These episodes of vascular occlusion are called a Sickle Crisis and it is a true medical emergency. Treatment includes pain medications to relieve the discomfort and and large amounts of IV fluids to lessen the sludging of the sickled cells within the small blood vessels. Oxygen is also given since this helps supply more O2 to the tissues that are being deprived by the slow blood flow. Most of these crises last a few days to a week and then resolve. They resolved faster and with less complications if aggressively treated early on.

Any situation that leads to dehydration or an elevation of body temperature or if an infection is present within the victim’s body can lead to a Sickle Crisis. In the case of Bennie Abram, who apparently had Sickle Cell Trait, it is likely that the dehydration that accompanied his training session helped precipitate this event. These crises are unpredictable and occur in a seemingly random pattern. Staying well hydrated helps, but even then a crisis can occur. This is the reason Bennie had gone though similar training exercises in the past without problem. This time he wasn’t so lucky. That’s the unpredictable nature of this disease.

There’s a great deal of research underway regarding genetic therapy for this disease. If the genetic makeup of the individual can be altered to do away with the S hemoglobin gene and replace it with a hemoglobin A gene then this disease could be cured. Hopefully that won’t be far down the road.

 
 
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