Sickle Cell Disease
Sickle cell disease affects one in fifty births in Ghana. This means that about 14,000 babies are born each year with sickle cell disease in Ghana. Of the record number of 2,400 babies born on New Year’s day in 2018 in Ghana; 48 would have been born with sickle cell disease without their parents knowing about it because we don’t have a national program for screening for the disease.Sickle cell disease is an inherited blood disorder caused by a mutation in haemoglobin; the red coloured protein inside our red blood cells. The sickle haemoglobin causes red blood cells to change their normal shape into banana-like shapes, which are unstable resulting in the cells breaking up easily, and blocking the blood vessels.
The common symptoms are:
Sickle cells break apart easily and become damaged leaving patients without enough intact red blood cells. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually become irreversibly damaged in 10 to 20 days, leaving a shortage of red blood cells (anemia). Without enough red blood cells, your body can't get the oxygen it needs to feel energized, causing fatigue.
Painful swelling of hands and feet.
The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
Episodes of pain.
Periodic episodes of pain, called crises, are a major symptom of sickle cell disease. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to many parts of the body including the chest, abdomen and joints. Pain can also occur in bones. The pain varies in intensity and can last for a few hours to a few weeks. Some people have only a few pain episodes. Others have a dozen or more crises a year. Patients may need to be hospitalized if a crisis is severe enough. Some adolescents and adults with sickle cell disease also have chronic pain, which can result from bone and joint damage, ulcers and other causes.
Sickle cells damage the spleen, which is an organ that fights infection, leaving patients more vulnerable to infections. Doctors commonly give infants and children with sickle cell disease vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.
A simple blood test called hemoglobin electrophoresis can determine whether you have sickle cell disease or not.
Myths about sickle cell disease:
You can get if from only one parent:
Not true, both parents must transmit their sickle haemoglobin (or another haemoglobin such as haemoglobin C, which when combined with one sickle haemoglobin can cause sickle cell disease) to the child, for the child to get sickle cell disease.
Sickle cell patients are bound to die before the age of 21, and not suitable for marriage:
Not true, with proper management sickle cell patients can live a productive adult life. It is important to find them at the time of birth to put them on therapy to stop infections. If managed well sickle cell patients grow to become healthy adults with active employment in the medical profession, as actors.
The disease occurs only occurs in blacks:
That is not true. It is found among people in India, the Mediterranean, and African origins.
Sickle-trait people get sickle cell disease as they get older:
Not true. Once you have sickle cell trait, that is what will remain with you till you die. The genes you inherit do not change over time.
There is no cure for sickle cell disease:
Not true, there is actually a cure for sickle cell disease called bone marrow transplantation (BMT). However, this cure is challenging, and expensive. There is no BMT in many African countries including Ghana.
Nearly 2% of births in sub-Saharan Africa are affected with sickle cell disease (SCD). Bacteria-related deaths in SCD have reduced dramatically in children in the last 30 years in the West, and it is anticipated that a similar drop will occur in Africa once prevention and prompt management of infections becomes widely implemented on the continent. During this same period, the death rate among adolescents and adults with SCD has not improved largely because we cannot predict, prevent and effectively manage the end-stage organ damage typical of this disease. The SickleGenAfrica Network is made up of African scientists and international collaborators who are going to study 7,000 children and adults with SCD in Africa to identify genetic markers associated with the development of organ damage, with a special emphasis on the body’s defence against molecules released from damaged red blood cells that cause tissue injury. The long-term goal of the network is to develop strategies to predict, prevent and treat organ damage in SCD.
To align the survival of individuals who have sickle cell disease in Africa with national norms.
To develop prognostic biomarkers of organ damage through the discovery of key genetic modifying factors and cognate mechanisms, and build capacity and career pipelines in Africa to support patient-centred research to advance the development of innovative therapy for SCD.
PROFESSOR SOLOMON OFORI-ACQUAH
Professor Solomon Ofori-Acquah is also Dean of the School of Biomedical and Allied Health Sciences, University of Ghana
Professor Ofori-Acquah was appointed Dean of the School of Biomedical and Allied Health Sciences in the University of Ghana in January 2017, and as Associate Professor of Medicine and Human Genetics, and Director of the Center for Translational and International Hematology in the University of Pittsburgh in 2013. He was born in Cape Coast, attended Adisadel College, and migrated to England in 1985 after “A” levels. He graduated from the Bromley College of Technology in 1989 with a Higher National Certificate in Medical Laboratory Sciences and a Fellowship (Part 1) in Laboratory Hematology in 1990. He graduated from Birkbeck College, University of London with an MSc in Bio-molecular Organization in 1992, and from King’s College School of Medicine and Dentistry, University of London in 2000 with a PhD in Molecular Genetics. Throughout his graduate studies he worked full-time as a Hematology Biomedical Scientist, at Farnborough hospital in Kent, and later at King’s College Hospital in London. After his PhD training he moved from the UK to the US to maintain his research interest in sickle cell disease. He was appointed Assistant Professor of Cell Biology and Neuroscience in 2002 at the University of South Alabama, and later joined Emory University, Atlanta, USA as Assistant Professor of Pediatrics in 2007 until his relocation to the University of Pittsburgh in 2013.
Professor Ofori-Acquah’s research interests are in the molecular pathogenesis, genetics and innovative therapy of acute complications of sickle cell disease with a focus on the lungs. He developed the first mouse model of the acute chest syndrome that helped to define extracellular heme as a prototypical erythroid danger associated molecular pattern molecule. His work on acute chest syndrome published in the prestigious Journal of Clinical Investigations in 2013 established him as one of the leading Sickle Cell Disease Research Scientist in the world; this year he will deliver the Symposium Keynote Address at the Annual Sickle Cell Disease Research and Education Symposium in the US. Currently, Pro. Ofori-Acquah maintains two active research programmes; one in the US focused primarily on preclinical studies using mouse models, and a second in Ghana focused on the influence of genetic variation on the risk and severity of major complications of sickle cell disease in two large patient cohorts in Accra and in Kumasi. The genetics work in Ghana is supported by the $5.5 million NIH grant with collaborative sites in Nigeria, South Africa, Tanzania and the US.
Professor Ofori-Acquah has received numerous research, training and achievement awards and honors. The NIH has continuously funded his work since 2004 with multiple R01 and R25 grants, and U01 and U54 awards totaling millions of US dollars. He has authored over 60 research papers, reviews and book chapters, and mentored over thirty students at undergraduate, graduate, postgraduate levels as well as many early stage investigators. He is a member of the review panels of several research grant agencies including the NIH, Wellcome Trust, American Society of Hematology, American Heart Association, and the UK Lottery. He serves on the advisory boards of many government and non-government entities, including the National Technical Advisory Committee for Newborn Screening for Ghana in 2011-2013. He is a founding Member of the Ghana Biomedical Convention serving as the first Chair of the organization’s Scientific Committee in 2008, and assuming that position again in 2014. He was Vice-President and President of the Ghana Biomedical Convention in 2012 and 2013 respectively. In 2016 he received an Appreciation Award for his role in founding the Ghana Biomedical Convention.
PROFESSOR GORDON AWANDARE
Professor Gordon Awandare is also Director of West African Centre for Cell Biology of Infectious Pathogens (WACCBIP)
Gordon Awandare is an Associate Professor at the Department of Biochemistry, Cell and Molecular Biology of the University of Ghana. He is also the Director of the West African Centre for Cell Biology of Infectious Pathogens (WACCBIP). He obtained his BSc Biochemistry degree in 1998 and MPhil Biochemistry in 2002, both from the University of Ghana. He subsequently undertook his doctoral studies at the University Of Pittsburgh Graduate School Of Public Health, Pittsburgh, Pennsylvania, where he graduated with a PhD degree in Infectious Diseases and Microbiology in 2007, winning the Most Outstanding Student’s award in the process. Prof Awandare did his postdoctoral fellowship at the Malaria Vaccine Division of the Walter Reed Army Institute of Research in Silver Spring, Maryland from 2007-2010.
Prof Awandare joined the Department of Biochemistry, Cell and Molecular Biology as a Lecturer in 2003, after working as a Principal Research Assistant at the Noguchi Memorial Institute for Medical Research from 2001-2003. He was promoted to Senior Lecturer in 2011, became Head of Department in 2013 and was promoted to Associate Professor in 2015. In 2014, he led the establishment of WACCBIP, after winning one of the World Bank’s African Centres of Excellence grants. Since returning from study leave in 2010, Prof Awandare has won several major competitive grants as Principal Investigator (PI), securing more than 17 million USD in funding for research, equipment, civil works, and fellowships for over 100 graduate students and postdoctoral fellows.
Prof Awandare’s research focuses on the biology and pathogenesis of Plasmodium falciparum in children, including providing a better understanding of host immune responses and exploitation of parasite invasion mechanisms for vaccine development. He has several research publications in some of the leading international Infectious Diseases and Immunology journals, including more than 20 as first author or last/corresponding author.
Prof Awandare’s professional achievements include his role in the discovery of complement receptor 1 (CR1) as a protein used by P. falciparum to invade red blood cells. He has received several awards including the University of Ghana’s Distinguished Award for Meritorious Service in 2013, and the 2015 Royal Society Pfizer award for his achievements in molecular and cellular studies of malaria.
PROFESSOR JULIE MAKANI
Professor Julie Makani is Head of Department of Haematology, Muhimbili University of Allied Sciences
Julie Makani is Associate Professor in the Department of Haematology and Blood Transfusion at Muhimbili University of Health and Allied Sciences (MUHAS) (http://www.muhas.ac.tz), the main clinical, academic and research centre in Tanzania. Tanzania has recognized sickle cell disease (SCD), as a major public health problem and it has been included as a priority condition in the national strategy for Non-Communicable Diseases in the Ministry of Health
With global partnerships, Muhimbili has developed a systematic framework for comprehensive research that is integrated into healthcare, advocacy and education. With prospective surveillance (2004 – 2016) of over 5,000 SCD patients; this is one of the largest single-center, SCD research programs in the world. Scientific themes include clinical research, biomedical research (including genomics) and public health [including ethics, social/behavioral science, population health and health policy]. The aim is to use SCD as a model to establish scientific and healthcare solutions in Africa that are locally relevant and globally significant.
Julie trained in Medicine (Tanzania) and Internal Medicine (UK), and completed her PhD in clinical epidemiology of SCD. She is a consultant physician at the MUHAS University Hospital, MAMC and was an honorary visiting research fellow in the Nuffield department of clinical medicine, University of Oxford www.ndm.ox.ac.uk/researcher/juliemakani. She is a Principal Investigator (PI) for Sickle Pan African Consortium (SPARCO)/ SickleInAfrica http://www.sickleinafrica.org/; Site PI for MUHAS for H3ABioNet https://www.h3abionet.org/ and Co-PI SickleGenAfrica http://sicklegenafrica.com/
She has held a Commonwealth Scholarship for post graduate studies in London and Wellcome Trust Research Fellowships [Training (2003 – 2009) and Intermediate (2012 - 2017)] and Tutu Leadership Fellowship (2009) www.alinstitute.org. She received the 2011 Royal Society Pfizer Award for her work in using anaemia in SCD as a model of translating genetic research into health benefit http://www.youtube.com/watch?v=sd17odE1YLs . She is a Fellow of Royal College of Physicians of United Kingdom and Tanzania Academy of Sciences.
Currently, there is an ongoing global effort to apply genomic science and associated technologies to further the understanding of health and disease in different populations, and, in particular, to identify individuals and populations who are at risk, due to genetic and/or environmental factors, for developing a specific disease. Possible outcomes of such research include early and more accurate diagnosis, the development of new drugs and potentially, personalized medicine - the systematic use of information about each individual patient to select or optimize the patient's preventative and therapeutic care.
However, most African countries are being left behind in this genomic revolution and if this is not urgently addressed, genomics will contribute to the widening of global and ethnic inequalities in health and economic well-being.
In response to this challenge, the African Society of Human Genetics, the National Institutes of Health (NIH) and the Wellcome Trust (WT) convened a Frontiers Meeting in Yaoundé, Cameroon in March 2009 to discuss a research agenda to study genetic diversity in health and disease in African populations. The meeting brought together scientific experts from a number of different fields to identify the major scientific questions, as well as the ethical and practical issues of pursuing a large-scale genomics research program in Africa. The key aim of the meeting was to engage with African scientists and other stakeholders in order to outline research priorities and discuss the appropriate study design needed to inform and ultimately impact health in the African populations. Following this meeting the concept of H3Africa was developed and the initiative was announced in June 2010. H3Africa is supported by the NIH Director's Common Fund as an initiative within its Global Health Program and by the Wellcome Trust as part of their continuing research portfolio in Africa.
For more information on the Consortium visit: www.h3africa.org