The intersection of sickle cell disease, stigma, and pain in Africa.

Sickle cell disease (SCD) is a significant public health concern in sub-Saharan Africa, where it is the most prevalent genetic disorder, presenting numerous health care and sociocultural challenges. A case study of a young girl from Ghana's Ashanti region illustrates the stigma surrounding SCD, driven by traditional beliefs and misconceptions that perceive SCD as a spiritual affliction. This stigma results in social ostracism and discrimination, impacting affected individuals and their families.

Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.

Sickle cell disease (SCD) is a single gene blood disorder characterised by frequent episodes of pain, chronic anaemic, acute chest syndrome, severe disease complications and lifelong debilitating multi-system organ damage. Genetic testing and screening programs for SCD and the sickle cell trait (SCT) are valuable for early diagnosis and management of children living with SCD, and in the identification of carriers of SCT. People with SCT are for the most part asymptomatic and mainly identified as through genetic testing or when they have a child with SCD.

Caught between pity, explicit bias, and discrimination: a qualitative study on the impact of stigma on the quality of life of persons living with sickle cell disease in three African countries.

Purpose: Sickle cell disease (SCD) is an inherited blood disorder characterized by unpredictable episodes of acute pain and numerous health complications. Individuals with SCD often face stigma from the public, including perceptions that they are lazy or weak tending to exaggerate their pain crisis, which can profoundly impact their quality of life (QoL).

Methods: In a qualitative phenomenological study conducted in Cameroon, Ghana, and Tanzania, we explored stakeholders' perceptions of SCD-related stigma using three analytical frameworks: Bronfenbrenner's Ecological Systems Theory; The Health Stigma and Discriminatory Framework; and A Public Health Framework for Reducing Stigma.

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.

Quality of Life in Sickle Cell Disease: What Matters.

Health-related quality of life (HRQoL) represents the practical effects of an illness in terms of symptoms and impacts, and of consequent treatments, as perceived by the patient. HRQoL is a complex multidimensional phenomenon in sickle cell disease (SCD) involving external stressors, thought patterns, emotional distress, physiological arousal, pain, and other complications of SCD. Social determinants of health comprise food and housing security, employment and education, and experiences of racism and discrimination; these social determinants also potentially affect health, HRQoL, and access to health care.

A case-control and seven-year longitudinal neurocognitive study of adults with sickle cell disease in Ghana.

Ageing in sickle cell disease (SCD) is associated with a myriad of end-organ complications, including cerebrovascular damage and cognitive impairment (CI). Although CI is very common in SCD, little is known about cognitive functioning and how it changes with age. This study examines cognitive patterns of 63 adults with SCD and 60 non-SCD, age- and education-matched controls in Ghana.

Promoting Adherence to Iron Chelation Treatment in Beta-Thalassemia Patients.

Thalassaemia is one of the commonest inherited genetic disorders world-wide with around 25,000 births of the most severely affected transfusion dependent children annually. Patients with transfusion dependent thalassaemia require regular blood transfusions to maintain life but because of this will develop iron overload. To remove the excess iron, patients are required to take iron chelation therapy (ICT).

Sickle Cell Disease Genomics of Africa (SickleGenAfrica) Network: ethical framework and initial qualitative findings from community engagement in Ghana, Nigeria and Tanzania.

Objectives: To provide lay information about genetics and sickle cell disease (SCD) and to identify and address ethical issues concerning the Sickle Cell Disease Genomics of Africa Network covering autonomy and research decision-making, risk of SCD complications and organ damage, returning of genomic findings, biorepository, data sharing, and healthcare provision for patients with SCD.

Design: Focus groups using qualitative methods.

Setting: Six cities in Ghana, Nigeria and Tanzania within communities and secondary care.

The Sickle Cell Disease Ontology: Enabling Collaborative Research and Co-Designing of New Planetary Health Applications.

Sickle cell disease (SCD) is one of the most common blood disorders impacting planetary health. Over 300,000 newborns are diagnosed with SCD each year globally, with an increasing trend. The sickle cell disease ontology (SCDO) is the most comprehensive multidisciplinary SCD knowledge portal.

Treatments for priapism in boys and men with sickle cell disease.

Background: Sickle cell disease comprises a group of genetic haemoglobin disorders. The predominant symptom associated with sickle cell disease is pain resulting from the occlusion of small blood vessels by abnormally 'sickle-shaped' red blood cells. There are other complications, including chronic organ damage and prolonged painful erection of the penis, known as priapism.

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.

Sickle Cell Disease-Genetics, Pathophysiology, Clinical Presentation and Treatment.

Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder. Understanding the pathogenesis and pathophysiology of the disorder is central to the choice of therapeutic development and intervention.

Utilising the 'Getting to Outcomes' Framework in Community Engagement for Development and Implementation of Sickle Cell Disease Newborn Screening in Kaduna State, Nigeria.

Background: Sickle Cell Disease (SCD) has been designated by WHO as a public health problem in sub-Saharan Africa, and the development of newborn screening (NBS) is crucial to the reduction of high SCD morbidity and mortality. Strategies from the field of implementation science can be useful for supporting the translation of NBS evidence from high income countries to the unique cultural context of sub-Saharan Africa. One such strategy is community engagement at all levels of the healthcare system, and a widely-used implementation science framework, "Getting to Outcomes" (GTO), which incorporates continuous multilevel evaluation by stakeholders about the quality of the implementation.

Low-dose hydroxycarbamide therapy may offer similar benefit as maximum tolerated dose for children and young adults with sickle cell disease in low-middle-income settings.

The multiple clinical benefits of hydroxycarbamide in sickle cell disease are supported by a large body of evidence. The maximum tolerated dose (MTD) is the regimen recommended by guidelines from a panel of National Heart, Lung, and Blood Institute (NHLBI) experts, but other dosage regimens have been used in babies (BABY-HUG) 9 to 18 months old (20 mg/kg per day) and developing countries such as India (10 mg/kg per day); however, there has been no direct comparison of the efficacy, effectiveness, or cost-effectiveness of these different regimens. The purpose of this review was to investigate the current situation with various hydroxycarbamide regimens with particular relevance to low-middle-income countries.

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.

Treatments for priapism in boys and men with sickle cell disease.

Background: Sickle cell disease comprises a group of genetic haemoglobin disorders. The predominant symptom associated with sickle cell disease is pain resulting from the occlusion of small blood vessels by abnormally 'sickle-shaped' red blood cells. There are other complications, including chronic organ damage and prolonged painful erection of the penis, known as priapism.

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.

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.

SWIM (sickle with ibuprofen and morphine) randomised controlled trial fails to recruit: lessons learnt.

Objectives: Sickle With Ibuprofen and Morphine (SWIM) trial was designed to assess whether co-administration of ibuprofen (a non-steroidal anti-inflammatory drug) resulted in a reduction of opioid consumption delivered by patient-controlled analgesia (PCA) for acute pain in sickle cell disease.

Design: A randomised, placebo-controlled, double-blind trial.

Setting: UK multicentre trial in acute hospital setting.

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.

Psychological therapies for sickle cell disease and pain.

Background: Sickle cell disease comprises a group of genetic blood disorders. It occurs when the sickle haemoglobin gene is inherited from both parents. The effects of the condition are: varying degrees of anaemia which, if severe, can reduce mobility; a tendency for small blood capillaries to become blocked causing pain in muscle and bone commonly known as 'crises'; damage to major organs such as the spleen, liver, kidneys, and lungs; and increased vulnerability to severe infections.

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.