Sickle cell disease: tipping the balance of genomic research to catalyse discoveries in Africa

Makani, Julie; Ofori-Acquah, Solomon F.; Tluway, Furahini; Mulder, Nicola; Wonkam, Ambroise

doi:10.1016/s0140-6736(17)31615-x

Cited by 11 publications

(9 citation statements)

References 13 publications

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“…Genomic studies conducted in SCD in Tanzania have already reported variability in prevalence of and co-existence of genomic loci that influence HbF, α-thalassemia, and G6PD levels [ 25 , 37 ]. Further research is required, and is ongoing, to increase understanding in the complex interplay of genetic, environmental and socio-economic factors influencing variability of disease spectrum [ 44 ].…”

Section: Discussionmentioning

confidence: 99%

A ten year review of the sickle cell program in Muhimbili National Hospital, Tanzania

et al. 2018

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BackgroundAfrica has the highest burden of Sickle cell disease (SCD) but there are few large, systematic studies providing reliable descriptions of the disease spectrum. Tanzania, with 11,000 SCD births annually, established the Muhimbili Sickle Cell program aiming to improve understanding of SCD in Africa. We report the profile of SCD seen in the first 10 years at Muhimbili National Hospital (MNH).MethodsIndividuals seen at MNH known or suspected to have SCD were enrolled at clinic and laboratory testing for SCD, haematological and biochemical analyses done. Ethnicity was self-reported. Clinical and laboratory features of SCD were documented. Comparison was made with non-SCD population as well as within 3 different age groups (< 5, 5–17 and ≥ 18 years) within the SCD population.ResultsFrom 2004 to 2013, 6397 individuals, 3751 (58.6%) SCD patients, were enrolled, the majority (47.4%) in age group 5–17 years. There was variation in the geographical distribution of SCD. Individuals with SCD compared to non-SCD, had significantly lower blood pressure and peripheral oxygen saturation (SpO2). SCD patients had higher prevalence of severe anemia, jaundice and desaturation (SpO2 < 95%) as well as higher levels of reticulocytes, white blood cells, platelets and fetal hemoglobin. The main causes of hospitalization for SCD within a 12-month period preceding enrolment were pain (adults), and fever and severe anemia (children). When clinical and laboratory features were compared in SCD within 3 age groups, there was a progressive decrease in the prevalence of splenic enlargement and an increase in prevalence of jaundice. Furthermore, there were significant differences with monotonic trends across age groups in SpO2, hematological and biochemical parameters.ConclusionThis report confirms that the wide spectrum of clinical expression of SCD observed elsewhere is also present in Tanzania, with non-uniform geographical distribution across the country. Age-specific analysis is consistent with different disease-patterns across the lifespan.

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Section: Discussionmentioning

confidence: 99%

A ten year review of the sickle cell program in Muhimbili National Hospital, Tanzania

et al. 2018

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“…For example, Koshy et al [4] found notable interethnic differences in the allele frequencies of single nucleotide variants (SNVs) in TGM1 which is associated with autosomal recessive lamellar ichthyosis. A notable example of an 'African' genetic disease is sickle cell disease (SCD), for which 64% of new born cases annually are from sub-Saharan Africa [5]. SCD is caused by an SNV in the β-globin gene which results in a Glu6Val substitution.…”

Section: Data For the African Contextmentioning

confidence: 99%

Development to Enable Precision Medicine in Africa

Mulder

2017

Per. Med.

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“…The Sickle Pan African Research Consortium (SPARCO) and the Sickle Africa Data Coordinating Centre (SADaCC) set out to develop a multi-national standardised electronic patient consented database of sickle cell disease (SCD) patients in sub-Saharan Africa (SSA) ( Makani et al, 2017 ; Wonkam and Makani, 2019 ). The success of this initiative would depend on the concurrent development of skills in SCD healthcare and research within an acceptable ethical, legal and socially acceptable framework to support research and improve healthcare for SCD ( Makani et al, 2017 ; Munung et al, 2019 ).…”

Section: Introductionmentioning

confidence: 99%

Skills Capacity Building For Health Care Services and Research Through the Sickle Pan African Research Consortium

et al. 2022

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Skills development, the building of human capacity, is key to any sustainable capacity building effort, however, such undertakings require adaptable and tailored strategies. The Sickle Pan-African Research Consortium (SPARCo) is building capacity in sickle cell disease (SCD) management and research in sub-Saharan Africa, including a multi-national SCD patient registry, this is underpinned by skills development activities in data, research, and SCD management.Method: The SPARCo Skills Working Group was set up with the mandate of coordinating skills development activities across the three SPARCo sites in Ghana, Nigeria and Tanzania. To tailor activities to the requirements of the consortium, a needs assessment was conducted at the start of the project which identified skills required for SCD management and research and catalogued existing external and internal training programmes. The needs assessment highlighted differences in skill levels between the sites and different organisational structures which required tailored skills development activities at individual, site and consortium levels.Strategy: Based on the needs and the resources available, different types of training activities were implemented: these included online, blended and face to face activities. In order to create a sustainable skills development programme, existing short, medium, long-term, on-job training activities were used wherever possible. World Sickle Cell Day (19th June) was leveraged for training and health education activities.Results: SPARCo has recorded 1,726 participants in skills development activities across the three sites. Skills have been enhanced in data management, SCD and research to underpin the core deliverables of SPARCo.Conclusion and Lessons Learned: The baseline needs assessments and continual review and adjustment were critical for development of an effective skill development strategy for the consortium. This adaptability was particularly valuable during the COVID-19 pandemic. The sustainability plan leveraged existing programmes and activities and has created a pool of people with required skills for health care and research in SCD. To be effective, skills development programmes need to take into account existing capacity, training opportunities and local conditions. The model was applied to SCD and is adaptable to other skills development in healthcare and research in low and middle- income countries.

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Sickle cell disease: tipping the balance of genomic research to catalyse discoveries in Africa

Cited by 11 publications

References 13 publications

A ten year review of the sickle cell program in Muhimbili National Hospital, Tanzania

A ten year review of the sickle cell program in Muhimbili National Hospital, Tanzania

Development to Enable Precision Medicine in Africa

Skills Capacity Building For Health Care Services and Research Through the Sickle Pan African Research Consortium

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