Dr Julie Makani
| Research Area: | Global Health |
|---|---|
| Keywords: | Sickle Cell Disease, Genetics, Haematology and Malaria |
Sickle Cell Disease (SCD), is the single most important genetic cause of childhood mortality world-wide. Although SCD is essentially an African problem, where over 90% of affected individuals are born, virtually no systematic studies have been conducted and there are limited data on even the most basic issues, such as the common complications and the current mortality. The research group has established a systematic framework for prospective studies in Tanzania and they have recruited an active cohort of 1,600 SCD patients, which is one of the largest in Africa. The aim is to describe the clinical spectrum of SCD in E Africa by defining the major causes of morbidity and mortality, in order to determine the most appropriate interventions to be introduced in Africa. This study will also allow better understanding of the molecular, genetic and environmental mechanisms determining disease course and severity in Africa.
Due to its molecular basis, SCD presents great opportunities for integrating clinical, epidemiological, patho-physiological and genetic research. However, the fundamental problems limiting health care, training and research in Africa include lack of infrastructure and low critical mass of scientists and health care professionals. This has led to collaboration to support training programmes in Haematology and Blood transfusion in Tanzania with the intention of developing sustainable human resource capacity (pre-service and continuing professional training) in order to get adequate well-trained, knowledgeable people, with their own scientific and clinical capabilities to participate and contribute to sustainable health care solutions.
Julie is a Clinical Research Fellow in the Nuffield Department of Medicine and is based in the Department of Haematology and Blood Transfusion at Muhimbili University of Health and Allied Sciences (www.muchs.ac.tz) which is the main clinical, academic and research centre in Tanzania.
| Name | Department | Institution | Country |
|---|---|---|---|
| Prof Thomas N Williams MRCP | Tropical Medicine | Oxford University | UK |
| Prof Kevin Marsh | Tropical Medicine | Oxford University | UK |
| SL Thien | Guys, Kings and St Thomas School of Medicine | UK | |
| Sharon Cox | London School of Hygiene & Tropical Medicine | UK | |
| Prof Andrew Prentice | London School of Hygiene and Tropical Medicine | UK | |
| Charles Newton | Institute of Child Health, University College London | UK | |
| Fanella Kirkham | Institute of Child Health, University College London | UK | |
| Ephata Kaaya | Muhimbili University of Health and Allied Sciences | Tanzania | |
| Pius Magesa | Muhimbili University of Health and Allied Science | Tanzania | |
| Khadija Malima | KEMRI Wellcome Programme / University of Oxford | Kenya | |
| Prof Bob W Snow | Tropical Medicine | Oxford University | UK |
| Simon Hay | University of Oxford | Nairobi | |
| Ms Rebecca Lingwood | University of Oxford, Continuing Educaton | UK | |
| Bernard Davies | University College London | UK |
2007. Valid consent for genomic epidemiology in developing countries. PLoS Med, 4 (4), pp. e95. | Read more
2007. Sickle cell disease in Africa: burden and research priorities. Ann Trop Med Parasitol, 101 (1), pp. 3-14. Read abstract | Read more
Sickle cell disease (SCD) has recently been recognised as a problem of major public-health significance by the World Health Organization. Despite the fact that >70% of sufferers live in Africa, expenditure on the related care and research in the continent is negligible, and most advances in the understanding and management of this condition have been based on research conducted in the North. In order to target limited resources, African countries need to focus research and interventions on areas that will lead to the maximum impact. This review details the epidemiological and clinical background of SCD, with an emphasis on Africa, before identifying the research priorities that will provide the necessary evidence base for improving the management of African patients. Malaria, bacterial and viral infections and cerebrovascular accidents are areas in which further research may lead to a significant improvement in SCD-related morbidity and mortality. As patients with high concentrations of foetal haemoglobin (HbF) appear to be protected from all but mild SCD, the various factors and pharmacological agents that might increase HbF levels need to be assessed in Africa, as options for interventions that would improve quality of life and reduce mortality. Hide abstract
2004. Stroke in sickle cell disease in Africa: case report. East Afr Med J, 81 (12), pp. 657-659. Read abstract
Stroke, including asymptomatic cerebrovascular events, is a significant cause of morbidity and mortality in sickle cell disease, occurring with an incidence of 10 to 25%. Extensive research has established that cerebral stenosis, involving the circle of Willis, is the most common mechanism in children. We report a child with sickle cell disease who presented with cortical blindness and right-sided hemiplegia. Computerised tomography of the brain revealed an infarct involving the left parietal region and extending to the occipital region. Stroke in SCD is multifactorial, but high-risk individuals can be identified by simple well-established strategies such as transcranial doppler ultrasonography. There are approaches for both primary and secondary interventions, which have been shown to be effective and need to be incorporated into management guidelines for SCD patients. Before schemes are recommended into health care policies, research in the appropriate setting is required. Hide abstract
2003. Admission diagnosis of cerebral malaria in adults in an endemic area of Tanzania: implications and clinical description. QJM, 96 (5), pp. 355-362. Read abstract | Read more
Cerebral malaria is commonly diagnosed in adults in endemic areas in Africa, both in hospitals and in the community. This presents a paradox inconsistent with the epidemiological understanding that the development of immunity during childhood confers protection against severe disease in adult life. Hide abstract
Determining the Neurocognitive Dysfunction in SCD Children
The commonest neurological complication in children with sickle cell disease is stroke, with United States estimates suggesting that 25% of SCA will have had a stroke by the age of 45 years. This is thought to be due to an occlusive vasculopathy and measurement of cerebral blood flow velocity (CBFv) using Transcranial Doppler (TCD) ultrasonography can be used to predict high risk children. There is now increasing evidence that there is a high prevalence of ‘silent’ cerebral infarcts ...
Identifying genetic factors determining foetal haemoglobin levels in Sickle Cell Disease
Despite their apparent genetic simplicity, it has long been appreciated that both ß-thalassemia and sickle cell disease (SCD) display a remarkable diversity in the severity of their disease. High levels of HbF have been shown to have a beneficial effect in both of these disorders, although the mechanism for the ameliorating effect differs. The occurrence of some complications of SCD like osteonecrosis, acute chest syndrome, and painful episodes are reduced by increased concentrations of HbF, ...
