Sickle cell disease SCD is the most common inherited genetic hematological disorder in Kenya rnand other parts of Africa. It is characterized by the presence of sickled red cells in the blood. In rnareas of low oxygen tension the abnormal sickled red blood assume a sickle and become rigid rnand hence can block small blood vessels impairing blood flow.rn The commonest forms of SCD in our environment in order of prevalence are HbSS HbSC and rnHbS-thal1. If a person inherits two sickle haemoglobins HbS from both parents the individual rnhas HbSS while a person who inherits one sickle haemoglobin HbS from one parent and another rnhaemoglobin variant HbC from the other parent has HbSC. Similarly the individual who inherits rnone sickle haemoglobin from one parent and another haemoglobin variant Hb -thalasaemia rnfrom another parent has HbS-thal. It is worthy to note that SCD does not include sickle cell rntrait also known as the carrier state HbAS. Recognition of the public health impact of sickle cell rndisease and trait is necessary so as to help establish appropriate interventions and survival policies rnand programmes with an aim of reducing the associated morbidity and mortality.rn II. Burden of Sickle Cell Diseasern Sickle cell disease affects nearly 100 million people worldwide and it is responsible for over 50 rnof deaths among those with the most severe form of the disease. It is estimated that each year rnover 300000 children are born annually with this disease and over 70 of these births occur in rnSub-Saharan Africa2.rn In Kenya it is estimated that 14000 children are born with sickle cell disease annually and it rncontributes significantly to both child and adult morbidity and mortality. The sickle cell disease rnburden follows malaria endemic patterns in Kenya. The high burden areas include lake-region rnwestern and coastal region of Kenya. Due to migration patterns Sickle Cell is also found in the rnurban and commercialized areas in Kenya. rnIII. Infant Screening of Sickle Cell Diseasern Infant screening is a public health intervention that involves the screening of infants for rnconditions that are treatable but not clinically evident.rn Screening of sickle cell disease can be done at various stages preconception antenatal and across rnthe life course of a patient. The best outcome is achieved when screening is done before six 6 rnmonths of age after which most of the complications will start to set in. Without interventions nine rnout of ten children born with sickle cell disease in Sub Saharan Africa die before their fifth birthday. rn1 Grosse S. D. Odame I. Atrash H. K. Amendah D. D. Piel F. B. Williams T. N. 2011. Sickle cell disease in Africa: a neglected cause of early rnchildhood mortality. American journal of preventive medicine 416 Suppl 4 S398S405. https://doi.org/10.1016/j.amepre.2011.09.013rn 2 World Health Organisation. The facts. https://www.afro.who.int/health-topics/sickle-cell-diseasern 10rnNewborn screening is recommended as a method of early detection for early intervention in sickle rncell disease to improve health outcomes. In countries that have adopted newborn screening the rnmortality rate has reduced by 25-75 because of early interventions like prophylactic treatments3. rnMethods of newborn screening include iso electric focusing IEF and validated point of care rapid rntests. The advantage of validated point of care tests includes increases accessibility affordability rnand reduces need for high technical expertise for interpretation. Confirmation should be done by rnHB electrophoresis HBE.rn I V. Rationale for Screening of Sickle Cell Diseasern Numerous studies provide clear evidence that life-threatening early complications of SCD rnsepsis splenic sequestration crisis etc. can be largely avoided if the diagnosis is made early and rnpreferably in the first three to six months of life. Simple but very effective prophylactic measures rnsuch as vaccination malaria prophylaxis or penicillin and Erythromycin prophylaxis can then be rninitiated sufficiently early. This can considerably reduce morbidity and mortality. rnThe World Health Organization SCD strategy for the African Region gives guidance that member rnstates should institute new born screening programs in their countries as one of the public health rninterventions. Kenya has also prioritized new born screening in the recently launched National rnstrategic plan for the prevention and control of Non Communicable Diseases 2021/2-2025/6.rn Screening identifies infants with other hemoglobinopathies hemoglobinopathy carriers and in rnsome states infants with -thalassemia syndrome.rn Screening of newborns will allow the country to have data on sickle cell for policy and planning
This guideline lays out the implementation framework for conducting universal screening rnfor sickle cell disease. It is intended for use by healthcare workers working at all levels of rnhealth care
Various types of data will be collected from different sources including non-governmental rnorganizations to monitor the implementation progress. These data will be collected through rnroutine methods surveys and periodic assessments among others.
In 2006 the World Health Assembly recognized sickle cell as a disease of public health concern. Over rnthe last 10 years there has been progress in terms of advocacy diagnosis new treatment trends rnavailability of medicines development of policies and guidelines to standardize the care of sickle rncell disease. WHO estimates that 70 of SCD deaths are preventable with: a Early Identification rnof SCD b appropriate clinical management and c patient-centered care. These are supported by rnguidelines which are being used in developed countries to manage sickle cell disease. rnOver the past 10 years there have been concerted efforts in Africa to address the burden of SCD. rnOrganizations within the region spearheading efforts on the response to SCD include CONSA and rnSickle cell Pan-African Research Consortium SPARCO. The Consortium on Newborn Screening rnin Africa CONSA is an international network that seeks to demonstrate the benefits of newborn rnscreening and early interventions for children with Sickle Cell Disease SCD in sub-Saharan Africa. rnThey provide standard-of-care practices for screening and early intervention therapies such as rnantibiotic prophylaxis and immunizations at participating institutions screening 10000 16000 rnbabies per year in each country and providing clinical follow-up for SCD-positive babies.rn In July 2021 the Ministry of Health launched its first national guidelines for the control and rnmanagement of sickle cell disease in Kenya. The guidelines outline the importance of early diagnosis rnthrough newborn screening. Research and pilot programs in Kisumu Homabay Kilifi Eldoret rnand Taita-Taveta have shown positive uptake acceptance and feasibility of newborn screening. rnRecently Kisumu County launched its newborn screening program and centre of excellence for rnsickle cell disease care. This is in line with other African countries like Ghana Tanzania and Nigeria rnworking within the SPARCO network.rn In Kenya the existence of a technical working group comprising of sickle cell disease stakeholders rncoordinates national response to sickle cell disease. Advocacy groups working under the national rnumbrella of The Sickle Cell Federation Kenya continue to advocate for early diagnosis and rnintervention for sickle cell patients through newborn screening. The major gaps identified are rnlack of awareness of sickle cell among the population and health providers. Furthermore lack rnof access to diagnostics and late diagnosis care and treatment have been identified as a major rnbarrier to good health and wellbeing among sickle cell patients. rnThe financing of diagnosis and treatment of sickle cell disease is not covered by most insurance rncompanies. The provision of the support by the few insurance companies is insufficient. Sickle cell rndisease is categorized as a congenital condition and thus fits as an exclusion by most insurance rncovers. Currently NHIF does not have a comprehensive care cover for the diagnosis and treatment rncosts of sickle cell disease. Sickle cell disease patients and their families incur significant out of rnpocket expenditures and suffer financial hardships accessing these services which is against the rnspirit of universal health coverage of leaving no one behind. rn12rnThere exists skill and knowledge gaps among healthcare providers on management of SCD. The rntertiary level facilities have sufficient capacity and competencies among the health workforce rnyet the primary healthcare facilities where majority access their services lack the capacity to rndiagnose and manage sickle cell disease. This disparity has resulted in late diagnosis and subrnoptimal management. The cost of care in private facilities is prohibitive to most patients. rnThere are initial efforts to create a central registry for sickle cell disease in Kenya. The research institutions rnand some healthcare providers have developed their own registries that are not linked to share rninformation with other stakeholders. The missing link between private institutions and government rndoes not allow for statistical quantification of the burden of sickle cell disease in the country. rnThe essential drug list in Kenya has incorporated Hydroxyurea for management of sickle cell rndisease. However the diagnostic capacity is very low in most institutions because of either rnlack of laboratory equipment quality assurance programs with sound maintenance programs. rnIn Kenya there are only about five HBE machines in public health facilities. This is coupled with rnfrequent machine breakdowns and erratic supplies of commodities and consumables. Despite the rnavailability of validated point-of-care rapid diagnostic tests they have not been procured for use rnat public facilities.
Sickle Cell Disease SCD is a significant contributor of NCD-related child mortality globally causing rn6-15 of deaths in children aged less than 5 years. The prevalence and mortality are significantly rnhigher in Africa being common in malaria endemic zones. In Kenya the burden of SCD is increasing rnwith an estimated 14000 children born with the condition every year. Between 2 to 4 out of every rn100 newborns in areas with a high burden of sickle cell gene have sickle cell disease. It is estimated rnthat without appropriate intervention 50-90 of those born with the condition die before their rnfrn ifth birthday.rn The burden of SCD is not limited to the medical costs but also other factors that contribute to rnreduced quality of life. These include stigma and discrimination psychosocial and emotional rnchallenges absence of medical care and unemployment. Children living with sickle cell disease rnexperience frequent school absenteeism which affects their progress in life and limits their rnpotential. The majority of them have delayed milestones. For PLWSCD each life stage i.e childhood rnadolescents and adulthood brings its own unique challenges in development and socialisation.