June I9, was the World Sickle Cell Disease Day and considering the devastating effects of this condition and the fact that it could be prevented, I dedicate this week’s write up to sickle cell.
Sickle cell disease is an inherited disorder in which one inherits two abnormal haemoglobins, one from each parent, one of which must be the Haemoglobin S. Sickle Cell Anaemia(SCA) results when both abnormal haemoglobin chains are of the S type.
There are different types of sickle cell diseases determined largely by the various abnormal haemoglobin combinations. These include SC, sickle-fetal haemoglobin (SF), sickle beta-plus-thalassaemia (HbS/β+) and sickle beta-zero-thalassaemia (HbS/β0).
The commonest of these is the SS type, so my discussion will centre on it as a prototype even though the other types also manifest similar symptoms.
The underlying abnormality is that in SCA, the red blood cells (RBC's) are abnormally shaped. The cells change from the normal round, doughnut shape to the elongated shape of a sickle, or letter 'C'.
Sickled cells are usually stiff and pointed, unlike normal RBC's which move easily through small blood vessels. Their shape means that they have a tendency to get stuck in narrow blood vessels and block the flow of blood. This can cause severe pain in the sufferer and lead to organ damage due to the cells not getting enough oxygen.
Sickle cells have a shorter-than-normal life span which leads to a low red blood cell count. Normal red blood cells can live up to approximately 120 days, whereas a sickled cell lives for only 10 to 20 days.
Children affected with the disease, inherited a sickle cell gene from each parent. Someone who inherits only one sickle cell gene and a normal gene from the other parent will have the sickle cell trait, but not the disease.
People who carry the trait don't have sickle cell disease or exhibit any signs of the disorder but they can still pass the disease on to their future children. When two people who have the traits marry, there is a 25 per cent chance that the offspring will have the sickle cell disease.
When one parent carries the trait and the other actually has the disease, the odds increase to 50 per cent that the child will inherit the disease.
Now let me clarify something that a lot of people get wrong, when we say that there is a one in four (25 per cent) chance of having a child with the disease when both parents have the trait, what we are saying is that with each pregnancy, there is a 25 per cent chance of having a child with sickle cell disease.
Please note that it is not that when you have four children, then one of them will have the disease. As a matter of fact it could be that if the couple decides to have three children, all three could have the disease or escape the disease.
Symptoms of sickle cell disease can vary and range from mild to severe. The symptoms also vary depending on whether it is SS, SC or the other types. Those with SS tend to have more severe manifestation of the disease.
Most children with sickle cell disease have anemia and may develop one or more of the following conditions and symptoms as part of the disorder:
* Acute chest syndrome - Inflammation or trapped red blood cells in the lungs.
* Aplastic crisis - Bone marrow temporarily slows its production of RBC's due to infection.
* Hand-foot syndrome (dactylitis) - Painful swelling of the hands and feet.
* Infection - Children with sickle cell anemia are at an increased risk for certain bacterial infections. High fevers are usually a common sign and require immediate attention by a doctor.
* Painful crises - Can occur in any part of the body and may be caused by cold or dehydration. The pain may be so severe that hospitalisation would be required.
* Splenic sequestration crises - The spleen becomes enlarged by trapping the abnormal RBC's. This leads to fewer cells in the general circulation and worsens the anemia, sometimes it has fatal consequences.
* Stroke - Poor blood flow can occur in the brain when sickle cells block small blood vessels. This may lead to stroke.
Other possible complications can include: leg ulcers, bone and joint damage, gallstones, kidney damage, painful prolonged erections in males, eye damage and delayed growth.
Besides a bone marrow transplant, there is no known cure for sickle cell disease. Transplants can become a complicated procedure and are not advised for everyone.
To qualify ,a child would need bone marrow from a 'matched' donor with a low risk of being rejected. There are significant risks towards the procedure, along with a high chance of rejection of the transplanted marrow. It is worth noting that bone marrow transplant cannot be done in Ghana.
Also with bone marrow transplant, even though the person with the disease is cured, the person can still transmit the disease to his/her children as the defect is locked in the genes; totally unaffected by the bone marrow transplant.
Even without a cure, children with sickle cell disease can lead very normal lives. Certain types of medication can be taken to help manage the pain, and immunisations can prevent infections.
Infants and young children usually require two daily doses of penicillin, until they are at least five years old. They should also be fully immunised with all regular childhood vaccinations.
Daily vitamin supplements, such as Folic acid which can help a child produce new RBC's are also advised. Children who develop serious complications such as anemia or stroke may receive regular transfusions of red blood cells to prevent or treat these complications.
There are other drugs that are currently helping to increase the amount of a certain type of haemoglobin usually produced by the fetus called fetal haemoglobin(HbF).
These drugs are not routinely given to children in Ghana, purely, because of the cost of the medications and the monitoring process one undergoes once on it. An example is Hydroxyurea, which interferes with the sickling process and makes red blood cells less sticky.
This helps decrease the number and intensity of painful episodes and other complications. Children with SCA should also drink plenty of liquid and get plenty of rest.
It is also advised that children avoid extreme temperatures. The average life span someone with sickle cell disease can live up to is at least 40 years old, and many even longer.
Early detection of this condition is priceless, unfortunately though, the national newborn screening for this condition is yet to take off. In addition, making available subsidised costs of hydroxyurea to help improve the condition is long overdue.
The introduction of the pneumococcal vaccine is a very laudable idea especially for children with this condition. Detection of risk factors for stroke is done with transcranial Doppler ultrasound, a machine that is not available even though it does not cost that much.
Perhaps, the single most important measure is educating the populace about knowing their sickling status whilst in school before they start developing feelings for the opposite sex.
Again one does not have to stop at the sickling test alone but even when negative, the electrophoresis will identify whether one status is normal or a carrier as the haemoglobin C will test negative for sickling.
In this wise, certain organisations have been helpful, particularly the Sickle Cell Condition Advocates (SICCA) which is spearheading nation-wide education and testing of the populace as well as establishing sickle cell clinics nationwide.
Please be reminded to contribute your widow’s mite to the Korle-Bu Children’s block fund. If everybody contributed two cedis, the estimated 23 million dollars to build and improve the Child Health emergency room and the paediatric intensive care unit could easily be built to cater for our children.
You can call our hotline (0302) 665405 to contribute to this worthy cause or you can come to the second floor of the Children’s block of the Korle-bu Teaching Hospital. Corporate bodies are particularly encouraged to donate.
You can also contribute through account number 1131130007184, Ghana Commercial Bank, Korle-Bu Branch. Account name is Child Health Foundation. Our children need us.
A member of Paediatric Society of Ghana.