World Sickle Cell Day - Need for public awareness
Monday, June 19 2017 was celebrated as World Sickle Cell Day. It is an annual celebration to focus attention on this genetic health condition all over the world. There is a high risk of premature child death if not managed properly.
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Effective control with early detection, public awareness and early management to prevent complications can reduce the associated mortality.
Sickle Cell Disease (SCD) 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 disease 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 underlying abnormality is that in SCD, 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 RBCs 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 because the cells are not getting enough oxygen. Sickled red blood 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 have 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 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.
It is worth noting that one in four (25 per cent ) chance of having a child with the disease when both parents have the trait, simply means 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, all three could escape the disease or all three may have a mix of the various combinations.
Symptoms
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 anaemia and may develop one or more of the following conditions and symptoms as part of the disorder:
Acute chest syndrome - trapping of red blood cells in the lungs.
Aplastic crisis - Bone marrow temporarily slows its production of RBCs due to infection.
Hand-foot syndrome (dactylitis) - Painful swelling of the hands and feet below two years of age.
Infection - Children with sickle cell anaemia are at an increased risk for certain bacterial infections.
Painful crises - Can occur in any part of the body and may be caused by cold or dehydration or stress.
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 anaemia with sometimes 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 (priapism), eye damage and delayed growth.
Bone marrow transplant as cure
Besides a bone marrow transplant, there is no known cure for sickle cell disease. Transplants can become a complicated procedure and currently not routinely done in Ghana. However, even after bone marrow transplant the disease may be cured in the individual but the sufferer can still transmit to his/her children as the defect is locked on the genes.
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 help in new red cell production are also advised. There are other drugs that increase fetal haemoglobin(HbF), a relatively better haemoglobin . 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 SCD should also drink plenty of fluids and get plenty of rest.
Early detection of this condition is priceless, fortunately, the national newborn screening for this condition is about taking off. It used to be done only in Komfo Anokye
Teaching Hospital but there are plans to scale it up. Korle Bu will soon start its newborn screening for sickle cell disease.
The introduction into our expanded programme of immunisation, of the pneumococcal vaccine is a big plus for this condition. Detection of risk factors for stroke is done with transcranial Doppler ultrasound.
Perhaps the single most important measure is educating the populace about knowing their sickle cell status while in school before they start developing feelings for the opposite sex. In this respect, certain organisations have been helpful particularly, the Sickle Cell Condition Advocates (SICCA) which is spearheading nationwide education and testing of the populace, as well as establishing sickle cell clinics nationwide. However, we all have a part to play. So wherever we are, let's spread this news on sickle cell awareness on Monday, June 19. Let's update our social media profiles with a focus on sickle cell disease.
[email protected]. A member of Paediatric society of Ghana