SICKLE CELL DISEASE MANAGEMENT - NEWBORN SCREENING IS CRITICAL (DG, SEPT 16, 2011, PAGE 21)

IT has been estimated by the Sickle Cell Foundation of Ghana (SCFG) that about two per cent of babies born in Ghana have sickle cell disease. Although many Ghanaians have heard about the disease, many still remain unaware of the nature of SCD. What is sickle cell disease? Various experts define sickle cell in different ways, mostly in medical language. In the layman’s language, however, one could describe sickle cell as a term used to describe a number of blood disorders that occur when the red blood cells assume an abnormal shape, similar to a sickle ( a farm implement). When this occurs, the cells, which are responsible for carrying oxygen from the heart to various parts of the body, begin to malfunction and eventually stay shorter than they are expected. A reduction in red blood cells could result in anaemia. Again, when sickling cells lose their oxygen, they become sticky and stiff resulting in other complications, including stroke. The most popular notion among many Ghanaians is that anyone with sickle cell is condemned to early death. However, the President of the Sickle Cell Foundation of Ghana (SCFG), Prof. Kwaku Ohene-Frempong challenges this notion as he explains that “it is possible for babies with sickle cell to grow up to become independent living adults when adequate care is available from early childhood.” Are sickling tests effective? In fact, the fear of SCD has led many Ghanaians to accept the norm of undergoing sickling tests as a means to determining their sickling status. However, Dr Frempong insists that sickling tests are not the right approach to managing SCD. In his estimation, these tests do not give a clear picture of one’s status and, therefore, some of those who are declared negative after undergoing sickling tests could sometimes possess genes, which when combined with other genes cause sickle cell. “There are people with AC. They are healthy, but the ‘C’ in their genes is a trait of sickle cell because SC is a type of sickle cell,” he noted. He said the implication therefore is that someone with AC, although declared negative, could produce an offspring with sickle cell disease when the other partner is AS, because the baby could pick the C and S from both parents and this combines to form SC. In fact, what many do not know is that there are four most common types of SCD. Apart from ‘SS’, which is widely known, we have ‘SC’, ‘S/beta-plus thalassemia’ and ‘S/beta-zero thalassemia’. According to Prof Frempong, ‘SC’ is the second most common type of SCD in Ghana. “One per cent of new-borns in Ghana are SS and 0.8 per cent are SC. So this population, in addition to those with other forms of sickle cell disease, constitute about two per cent of the population,” states Prof Frempong. One should, therefore, not be deceived that it is not possible for him or her to have a child with sickle cell disease just because he or she was declared negative following a sickling test. Prof Frempong, who works with the Children’s Hospital of Philadelphia, again explains that sickling tests also leads to a situation where healthy people are declared positive and put on treatment, which should not be the situation. “People with a trait of ‘S’ genes are declared positive, but not all these people are actually sick. For instance those with ‘AS’, although declared positive, are actually healthy and do not need to be put on medication,” he stated. He said it was therefore wrong for persons with ‘AS’ to be put on Folic Acid, because they do not need it. The question to ask, then, is: “if sickling test is not the best way to determine one’s sickling status, which way is appropriate?” There are other tests that could indicate the gene types in your red blood cells and the most common is Haemoglobin Electrophoresis, according to Prof Frempong. He however admits that this test is much expensive than the sickling test. The right way to go Ultimately, the best way to manage sickle cell from causing damage to humans is to ensure early detection and management of the disease. And the best way to detect sickle early enough is through the screening of newly-born babies. “When we screen blood samples of babies, we are able to tell who is born with sickle cell and who is not. Some interventions can then be made to save those born with the disease from any complications that may arise when the disease begins to assert itself,” Prof Frempong mentioned. He said one of the major causes of complications for children with sickle cell disease was infection. “We can put the child on antibiotics so as to reduce the chances of getting infection,” he noted. Although newborn screening, as doctors put it, is the way to go in managing sickle cell, one challenge that health officials usually face is how to convince parents that their children have SCD. So many people do not believe it when they are told that their babies have SCD because as Dr Frempong explains: “a sickle cell baby does not show any signs of the disease until after one year.” This, he explains, is because the ‘A’ Haemoglobin, which is the one affected by sickle cell, is produced in very low amounts when the baby is born. “Below one year, the amount of ‘A’ Haemoglobin in the blood is between 10 to 40 per cent. However, after the first year, the ‘A’ Hemoglobin becomes the dominant Hemoglobin, over 90 per cent,” stated Prof Frempong. If you are reading this, therefore, do not be deceived into thinking that your baby does not have sickle cell simply because he or she looks healthy at birth. National Newborn Screening Programme To promote early screening and management of SCD in Ghana, the Ghana Health Service, Ministry of Health (MOH) and SCFG partnered to design and launch the National Newborn Screening Programme (NNbSP) for SCD in 2010. As part of the implementation of the NNbSP, the screening laboratory at the Noguchi Memorial Institute of Medical Research, Legon, is being expanded to carry out the screening of blood samples from all parts of the country for SCD. Again, plans are underway to construct a blood and sickle cell centre in Kumasi to provide quality and comprehensive care and research into sickle cell. Another critical aspect of the NNbSP is the training of health personnel in all corners of the country to provide quality supportive care for people living with SCD, especially babies and children. In line with this, the foundation recently organised a residential training workshop on the NNbSP for doctors, nurses, midwives, public and community health nurses and allied-health personnel from the Northern, Upper East and Upper West regions. A number of selected topics were treated during the two-day training programme, including: Screening, tracking and follow-up of new-borns with SCD; Interpreting results of laboratory tests for haemoglobin disorders; nursing services; and patient education and support. The workshop helped to re-orient and up-date the knowledge of the health personnel on the management of SCD. It is expected that these health personnel would form core teams in their respective districts for comprehensive management of sickle cell disease. They would equally train other health personnel in both primary and secondary health facilities, so as to ensure that the proper management of sickle cell disease trickles to the grassroots. “We want health personnel in all health centres to be ready to provide adequate and professional care for babies who would be found with sickle cell, when the new-born screening rolls out nationwide,” Mr Eddie Tettey, Vice President of the foundation and programme administrator of the NNbSP, stated in an interview. He said the foundation’s expectation was that the new-born screening would be functional in all parts of the country by four years’ time. “Our main objective is to have a situation where everyone with SCD or its related conditions, in Ghana, is properly diagnosed and offered education, counselling and modern medical and psychosocial services,” Mr Tettey noted. It is difficult to tell the percentage of Ghana’s population that is currently living with sickle cell condition because, as Prof Frempong states: “we do not know how many of those born with the disease are still living.” Therefore, it is crucial for all Ghanaians to support the newborn screening initiative to ensure that children born with SCD receive adequate care and grow up to become healthy adults who can live longer than their predecessors. SCD is a dangerous condition and we must all help the Health Service, MOH, SCFG and other partners to manage the disease effectively and enable Ghanaians live healthy lives.