Defining global strategies to improve outcomes in sickle cell disease: a Lancet Haematology Commission.

All over the world, people with sickle cell disease (an inherited condition) have premature deaths and preventable severe chronic complications, which considerably affect their quality of life, career progression, and financial status. In addition, these people are often affected by stigmatisation or structural racism, which can contribute to stress and poor mental health. Inequalities affecting people with sickle cell disease are also reflected in the distribution of the disease—mainly in sub-Saharan Africa, India, and the Caribbean—whereas interventions, clinical trials, and funding are mostly available in North America, Europe, and the Middle East.

Development of multi-level standards of care recommendations for sickle cell disease: Experience from SickleInAfrica.

Sickle Cell Disease (SCD) causes significant morbidity and mortality particularly in sub-Saharan Africa (SSA) where it contributes to early childhood deaths. There is need to standardize treatment guidelines to help improve overall SCD patient health outcomes. We set out to review existing guidelines on SCD and to set minimum standards for management of SCD for the different referral levels of healthcare.

Multispectral imaging for MicroChip electrophoresis enables point-of-care newborn hemoglobin variant screening.

Hemoglobin (Hb) disorders affect nearly 7% of the world's population. Globally, around 400,000 babies are born annually with sickle cell disease (SCD), primarily in sub-Saharan Africa where morbidity and mortality rates are high. Screening, early diagnosis, and monitoring are not widely accessible due to technical challenges and cost.

The Consortium on Newborn Screening in Africa for sickle cell disease: study rationale and methodology.

Sickle cell disease (SCD) is a common condition within sub-Saharan Africa and associated with high under-5 mortality (U5M). The American Society of Hematology instituted the Consortium on Newborn Screening in Africa (CONSA) for SCD, a 7-country network of sites to implement standardized newborn hemoglobinopathy screening and early intervention for children with SCD in sub-Saharan Africa. CONSA's overall hypothesis is that early infant SCD screening and entry into standardized, continuous care will reduce U5M compared with historical estimates in the region.

Establishing a Sickle Cell Disease Registry in Africa: Experience From the Sickle Pan-African Research Consortium, Kumasi-Ghana.

Sickle cell disease (SCD) is the most common clinically significant hemoglobinopathy, characterized by painful episodes, anemia, high risk of infection, and other acute and chronic complications. In Africa, where the disease is most prevalent, large longitudinal data on patients and their outcomes are lacking. This article describes the experiences of the Kumasi Center for SCD at the Komfo Anokye Teaching Hospital (KCSCD-KATH), a Sickle Pan-African Research Consortium (SPARCO) site and a SickleInAfrica Consortium member, in establishing a SCD registry for the evaluation of the outcomes of patients.

Enablers and barriers to newborn screening for sickle cell disease in Africa: results from a qualitative study involving programmes in six countries.

Objectives: Given the fundamental role of newborn bloodspot screening (NBS) to enable prompt diagnosis and optimal clinical management of individuals with sickle cell disease (SCD), we sought to systematically assess enablers and barriers to implementation of NBS programmes for SCD in Africa using established qualitative research methods.

Setting: Childbirth centres and NBS laboratories from six countries in East, West and Southern Africa.

Participants: Eight programme leaders involved with establishing and operating NBS programmes for SCD in Angola, Democratic Republic of Congo, Ghana, Liberia, Nigeria and Tanzania.

Utilization of Pneumococcal Vaccine and Penicillin Prophylaxis in Sickle Cell Disease in Three African Countries: Assessment among Healthcare Providers in SickleInAfrica.

Sickle cell disease is a genetic disease with a predisposition to infections caused by encapsulated organisms, especially Pneumococcal vaccines and prophylactic penicillin have reduced the rate of this infection and mortality in sickle cell disease. However, implementation of these interventions is limited in Africa. The objectives of the study were to assess health care providers' behaviors with the implementation of pneumococcal vaccination and penicillin prophylaxis and to identify barriers to their use.

Implementing newborn screening for sickle cell disease in Korle Bu Teaching Hospital, Accra: Results and lessons learned.

Background: Early diagnosis of sickle cell disease (SCD) through newborn screening (NBS) is a cost-effective intervention, which reduces morbidity and mortality. In sub-Saharan Africa (SSA) where disease burden is greatest, there are no universal NBS programs and few institutions have the capacity to conduct NBS. We determined the feasibility and challenges of implementing NBS for SCD in Ghana's largest public hospital.

Empowering newborn screening programs in African countries through establishment of an international collaborative effort.

In an effort to explore new knowledge and to develop meaningful collaborations for improving child health, the First Pan African Workshop on Newborn Screening was convened in June 2019 in Rabat, Morocco. Participants included an informal network of newborn screening stakeholders from across Africa and global experts in newborn screening and sickle cell disease. Over 150 attendees, representing 20 countries, were present including 11 African countries.

Exploring the Role of Shared Decision Making in the Consent Process for Pediatric Genomics Research in Cameroon, Tanzania, and Ghana.

It is customarily perceived that in Africa, decisions around research participation may be based not only on individual reflection but also on discussions with others. Some authors have argued that such decision making is reflective of a more traditional communitarian African worldview; one critique of such a perspective is that it is lacking an empirical grounding. In this study, we explore decision making around enrollment in sickle cell genomics research in three countries in Africa, namely, Ghana, Cameroon, and Tanzania.

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.

Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction in childhood mortality from SCD. Policies and methodologies for NBS vary in different countries, and this might have consequences for the quality of care and clinical outcomes for SCD across Europe.

Relation Between Religious Perspectives and Views on Sickle Cell Disease Research and Associated Public Health Interventions in Ghana.

Sickle cell disease (SCD) is highly prevalent in Africa with a significant public health burden for under-resourced countries. We employed qualitative research methods to understand the ethical, legal, and social implications of conducting genomic research in SCD under the Human Heredity and Health in Africa (H3Africa) initiative. The present study focused on religious and cultural aspects of SCD with the view to identifying beliefs and attitudes relevant to public health interventions in Ghana.

Sickle cell disease.

Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 and 400,000 neonates globally each year, the majority in sub-Saharan Africa. Haemoglobin molecules that include mutant sickle β-globin subunits can polymerize; erythrocytes that contain mostly haemoglobin polymers assume a sickled form and are prone to haemolysis.

Organ damage in sickle cell disease study (ORDISS): protocol for a longitudinal cohort study based in Ghana.

Introduction: Sickle cell disease is highly prevalent in Africa with a significant public health burden. Nonetheless, morbidity and mortality in sickle cell disease that result from the progression of organ damage is not well understood. The Organ Damage in Sickle Cell Disease Study (ORDISS) is designed as a longitudinal cohort study to provide critical insight into cellular and molecular pathogenesis of chronic organ damage for the development of future innovative treatment.

Perspectives from NHLBI Global Health Think Tank Meeting for Late Stage (T4) Translation Research.

Almost three-quarters (74%) of all the noncommunicable disease burden is found within low- and middle-income countries. In September 2014, the National Heart, Lung, and Blood Institute held a Global Health Think Tank meeting to obtain expert advice and recommendations for addressing compelling scientific questions for late stage (T4) research-research that studies implementation strategies for proven effective interventions-to inform and guide the National Heart, Lung, and Blood Institute's global health research and training efforts. Major themes emerged in two broad categories: 1) developing research capacity; and 2) efficiently defining compelling scientific questions within the local context.

Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease.

Sickle cell disease (SCD) is a debilitating single gene disorder caused by a single point mutation that results in physical deformation (i.e. sickling) of erythrocytes at reduced oxygen tensions.

Community engagement to inform the development of a sickle cell counselor training and certification program in Ghana.

Sickle cell disease (SCD) and sickle cell trait (SCT) are highly prevalent in Africa. Despite public health implications, there is limited understanding of community issues for implementing newborn screening and appropriate family counseling. We conducted a 3-day workshop in Kumasi, Ghana, with community leaders as lay program development advisors to assist the development and implementation of a Sickle Cell Counselor Training and Certification Program.

Newborn Screening for Sickle Cell Disease in Liberia: A Pilot Study.

Background: In malaria-endemic countries in West Africa, sickle cell disease (SCD) contributes to childhood mortality. Historically, Liberia had regions wherein hemoglobin S and beta-thalassemia trait were mutually exclusive. Data on hemoglobinopathies in the Monrovia, the capital, are outdated and do not reflect urban migration.

Filterability of freshly-collected sickle erythrocytes under venous oxygen pressure without exposure to air.

We previously found that blood samples collected from steady-state patients with sickle cell disease (SCD) without exposure to air contain a new type of reversibly sickled cells (RSCs) with blunt edges at a level of as high as 78%. Since partial oxygenation of once-deoxygenated sickled cells with pointy edges to near venous oxygen pressure generates similar sickled cells with blunt edges in vitro, we named them as partially oxygenated sickled cells (POSCs). On the other hand, partial deoxygenation of once-oxygenated SS cells to venous oxygen pressure generates partially deoxygenated sickled cells (PDSCs) with pointy edges.

Sickle cell disease and H3Africa: enhancing genomic research on cardiovascular diseases in African patients.

Background: Sickle cell disease (SCD) has a high prevalence in sub-Saharan Africa. There are several cardiovascular phenotypes in SCD that contribute to its morbidity and mortality.

Discussion: SCD is characterised by marked clinical variability, with genetic factors playing key modulating roles.

Using formative research to develop a counselor training program for newborn screening in Ghana.

Sickle cell disease (SCD), sickle cell trait (SCT) and related conditions are highly prevalent in sub-Saharan Africa. Despite the public health implications, there is limited understanding of the unique needs regarding establishing and implementing extensive screening for newborns and appropriate family counseling. We sought to gain understanding of community attitudes and beliefs about SCD/SCT from counselors and potential counselors in Ghana; obtain their input about goals for counseling following newborn screening; and obtain guidance about developing effective counselor education.