Sickle cell anaemia
Sickle cell anaemia is caused by the mutation of a single defective gene. If a patient inherits the recessive gene from both parents, he will develop the full-fledged form of the disease. If a patient only inherits a recessive gene from one parent and a dominant gene from another, he will not develop the full-fledged form of the disease and the heterozygosity may confer him immunity to blood-borne parasitic diseases such as malaria. All S7 biology students should be familiar with the above information. However, you may not know how the life a man is totally devastated by one infinitesimal defective gene. Patients afflicted by sickle cell disease are more likely to get infection especially pneumonia and experience severe pain because of the blockage of blood vessels by clumped blood cells. Lack of blood supply to organs like spleen is the culprit of susceptibility to infection. The following anecdote is a vivid illustration of agony suffered by a sickler.
' A kid with sickle cell always feels different - deprived. I couldn't do the activities the other kids did, especially sports. So I tried to excel things like drawing and artwork, where there was no exertion. I was mostly a loner because I couldn't run with the crowd.
I had some crisis before, but the first time I remember getting pain medication was born when I was eleven. The introduction of the pain medicine into my system - man, it felt so good for the pain to stop, you know. It was Demerol they gave me, and after that I had a lot of hope that I'd be able to stop the pain when it came. From then on, I knew I wouln't have to be in pain for a long time - when I had an attack, all I had to do was go down to the hospital and get some medicine and it would stop the pain...............It was hard for me to keep up with classes when I got to high school because I was sick so much. I was very thin and it was a bad thing to be real skinny. I couldn't gain weight. So I withdrew from people and that's why I became a loner.'
The patient also described the pain he suffered.
' It feels like someone has a handful of my intestine and he's squeezing it like at a pulsing kind of rate thing - just like a pulse. It can be to the very mild or to the very extreme. I've had pain so bad - you know, I just wanted someone to kill me and get it over with, it hurt that bad. I've had mostly the regular things with sickle cell, like my gallbladder operation and the pneumonias and the abscess in my neck when I was in my early twenties. I had hepatitis B, too, but that was from the intravenous street drugs. I was so sick that time that the doctors were telling my parents they'd help with the funeral arrangements and everything.'
When we study sickle cell disease in our biology class, we may not have this deep feeling. One day when you receive medical training, you have to think from the point of view of a patient and understand the disease not only from scientific but also from social and personal aspects.
Reference:
Nuland (1997), How We Live, (p. 112-114), Vintage, U.S.
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