EARLY DIAGNOSIS OF THE SICKLE CELL DISEASE

Sickle cell disease (SCD) is an inherited genetic disease that causes the red blood cell of an individual to be sickle-shaped rather than the usual disc shape. This condition can have grave implications on the quality of life of an individual. The disease usually happens when an offspring receives two altered Hemoglobin genes (one from each parent), resulting in the production of sickled red blood cells.

Some people have just one of the sickle cell genes from a parent, and therefore only have the trait, but do not develop symptoms like individuals with the disease who have inherited two sickle cell genes from both parents. The hemoglobin is  an important part of the red blood cell that carries oxygen and gives the blood its color.

When there is a specific change in the gene that codes for the normal hemoglobin (HbA), the resulting hemoglobin gives the red blood cell a sickled shape. The sickled red blood cells (RBCs) tend to get stuck to each other and block blood vessels leading to the pain crisis that individuals with SCD face. Anemia is quite a common problem also because the sickled RBCs are destroyed faster, therefore patients with SCD may develop moderate continuous anemia. Another risk is the sickled RBCs getting stuck in the spleen leading to reduced function of the spleen and a high risk of death. Many other symptoms like bone necrosis, chest syndrome, and renal failure can occur in SCD patients depending on their exposure to adverse situations like dehydration, extreme heat or cold, or infections. Other complications can occur resulting in death.

Living with SCD can be difficult for many people because of the crisis and various episodes. Despite this, many try to carry on with their normal lives in between any sickness or crisis they have. It is important to make the effort to reduce the incidence of the disease and this is achievable with better healthcare systems. The surefire way to prevent the disease starts with couples taking a genetic test to find out if they have the altered hemoglobin gene. The condition usually happens when the offspring gets the altered hemoglobin gene from both parents. For a couple where each partner has at least one sickle cell gene, there is a minimum of 25% probability that one of their offspring will have SCD. To eliminate the probability of having a sickle cell child, two individuals, each having the sickle cell gene must not reproduce. Therefore, if more couples take this genetic test to find out their compatibility (regarding the sickle cell gene), there would be fewer cases of sickle cell disease.

Sickle cell disease has become one of the most common inherited diseases in many parts of the world including Africa. Africa has the highest incidence of the disease with about 2% of all children born in sub-Saharan Africa carrying the disease. This means that in Nigeria, 20 out of 1000 births have sickle cell disease. According to the WHO1, half of the world’s global incidence of the disease is in Nigeria – the most populous country in the African continent. The percentage of the sickle cell trait carriers (those that have just one sickle cell gene from one parent) is also not surprisingly high in the continent. In Nigeria, for example, 24% of the population are carriers of the sickle cell trait, and the higher the number of carriers of the trait, the higher the incidence of the disease in that same population. It is evident that there is a need for better health education and premarital counseling for sickle cell compatibility.

In places like Africa where the burden of the disease is high, we need to strengthen our healthcare system to adequately manage sickle cell disease and improve life quality. For a healthcare system to overcome sickle cell disease, there must be adequate care management, appropriate care facilities, early diagnosis, and prophylaxis.

Many people in these regions with a high incidence have limited knowledge of the disease and are only diagnosed with the disease when they present with symptoms. By this time, they may already have complications that could have been avoided or minimized if the diagnosis was done early and prophylactic measures were put in place. Research has shown that morbidity and mortality rate of the disease reduces when healthcare systems offer an early diagnosis of the disease, relevant preventive measures against symptoms, health education and counseling for the parents as well as access to care. Strengthening the healthcare system in these ways will enable treatment to commence before any complication and will greatly improve the quality of life of individuals with SCD. Early diagnosis of the disease may include neonatal screening or prenatal screening. The prenatal screening which involves checking the genetic information of a fetus in the early stages of pregnancy may come with some ethical concerns in certain cultures. This might be because of the likely decision of pregnancy termination that may be made.

Neonatal screening is another way to an early diagnosis of sickle cell disease. This screening will confirm the genetic status of any newborn who has the risk of having sickle cell disease and ensure preventive measures start early enough to avoid health complications and enhance the wellbeing of the individual. This is a critical step in the management of the disease, and a major step in strengthening the healthcare system to do this will include providing the capacity and resources to carry out neonatal screening for sickle cell disease. Many high-income countries already have this in place for every child born who is at risk. If other developing nations adopt this, it can be a large contribution to reducing their incidence rate. As of now, many of these countries screen for sickle cell disease after the child has grown a few years and already has symptoms they do not understand.

Prophylaxis and treatment, if started early in life is a major game changer and life booster for anyone with sickle cell disease. Healthcare systems should invest more into growing their capacity for neonatal screening and making it accessible to everyone who needs it.

Contact us at Biologix to find out more about our neonatal screening service

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