Dr Sylvester Ikhisemojie
Sickle cell anaemia is a challenging inherited disorder that is prevalent in Sub-Saharan Africa.
Its distribution closely mirrors those areas where malaria is endemic. It is thought that it was a mutation developed to cope with the burden of malaria such that the normal adult haemoglobin developed a resistant nature which allowed some specific amino acid substitution to take place and create this red cell.
Unfortunately, as with all good things, there is a downside to this; the development of the SS and SC genotype essentially occurring when carriers of the gene — called a trait — marry one another and have children, some of whom may develop the disease.The result is that red blood cells, which flow within the vessels like a stack of coins in people without the disease, are unable to flow in those who have it because they attain a new, boat-shaped nature that is unable to move with ease through the blood vessels. This singular abnormality is responsible for the various problems which ensue in the lives of these individuals. Many people will be familiar with the frequent nature of the crises they endure and it will just suffice here to mention them.
These are the vaso-occlusive crisis, also known as bone-pain crisis; haemolytic crisis, where the person develops a marked yellowing of the eyes and the body; sequestrative crisis, where the internal organs like the spleen and the liver act like a huge sponge that soaks up the blood and thus withdraws all that blood from the circulation; and finally, the aplastic crisis, a phenomenon in which the usual sites of blood cell production are unable to reproduce them. This is especially life-threatening.
However, it is with the lesser known problems, although all of them serious, that this piece would address.
There are other immense challenges people with sickle cell anaemia face and we shall look at them from the head and neck region downwards towards the feet.
In the head region, they are prone to suffering from strokes even at pre-school age. This is made possible by the development of blood clots within the vessels that travel to the brain to cause blockage at a vital point. This leads to weakness of a part of the body, paralysis or death. Another common problem is that of falls. These individuals frequently have low blood counts. Without regular checks in a hospital, this deterioration will be missed and the sufferer may be so low in blood count that oxygen supply to the brain is compromised. The person faints and could sustain a fatal or life-changing head injury from the fall. Lastly, the abnormally shaped red cells can block the vital retinal vessels and cause blindness.
Sometimes, severe chest pain occurs following even minimal physical exertion. This pain is usually centrally placed, over the sternum or breast bone and may persist for several hours to days. The internal chest organs are frequently not involved in this distressing cycle of pain. In the abdominal cavity, however, the picture is starkly different. The spleen is often lost practically by the time a sufferer is about five-year-old, thus removing an important organ which helps to rid the system of some organisms.
Repeated crises eventually deprive this organ of substantial blood supply, such that it is eventually isolated from the rest of the circulation.
The kidneys may also similarly suffer, in that they could begin to fail slowly over a span of time. If this is a progressive pattern, then chronic kidney failure is the rule. Also, the gall-bladder is prone to producing and storing stones which cause severe pain and is susceptible to severe infections. Often, they are quite numerous and, in the end, the remedy will be to surgically remove the gall bladder. The intestines are not spared either because they are sometimes deprived of their normal blood supply, with resulting intestinal obstruction. When only a few areas of the intestines are involved, recovery could occur with adequate fluid intake or therapy and antibiotic usage. However, when the area is large, an emergency operation would be the way to deal with this problem, especially if symptoms other than pain are present.
In males in particular, the added problem they face is a malady known as priapism, where the penis is suddenly erect without any obvious sexual stimulus and may be persistent for several hours to days. This has been seen in children as young as two and can occur at any age. It is a painful, distressing anomaly which is usually relieved by an operation. This also would save the penis from suffering permanent damage and an eventual loss of function.
They may also suffer from problems with the bones and joints. The joint most frequently involved is the hip joint. In this case, the end artery there gets obstructed by the abnormally shaped red blood cells seen in these individuals, and leads to a progressive loss in the blood supply to the head of the femur and its eventual collapse. These lead to severe joint pain, a progressive inability to walk properly and loss of normal productivity. Again, a replacement surgery for the damaged head of the affected femur is the definitive treatment. Sadly, it is expensive, and thus outside of the reach of most of the people who require this procedure.
Around the ankles, people with this condition need to be especially wary of sustaining injuries that involve skin loss. Sometimes though, these wounds could develop following very trivial injury before they develop into larger wounds despite treatment. When these become long-standing, ulcers develop in these areas of the body with often frustrating treatment. Long hospital stay is the rule as surgical intervention does not guarantee success. Frequently, repeated wound dressings are undertaken. Skin-grafting is often employed but may prove to be inadequate. The most frustrating of all these skin and bone problems is chronic bone infection. It is usually better to do everything possible to prevent such an infection from becoming established. If that effort fails, treatment may last an entire lifetime.
These problems can be avoided mostly by not disregarding the need for regular follow-ups in the designated centres where these individuals are cared for and advised, and not neglecting the need to take adequate amounts of fluids and thus preventing the blood cells from clumping together within the blood vessels.
It can also be avoided by seeking advice quickly once they have observed anything unusual in their bodies. The outcome of any potential problem is often determined by how quickly a problem is brought to a doctor’s attention and the vigour with which it is pursued. Parents who have children with this disorder should note that, as always, prevention is better than cure. They must take more than a cursory interest in the welfare of those who have the disorder.
Source: The Punch