The inherited diseases of hemoglobin are an emerging global health burden
TL;DR: It is estimated that in excess of 300,000 children are born each year with a severe inherited disorder of hemoglobin and that approximately 80% of these births occur in low- or middle-income countries, with the true magnitude of this burden still unknown.
About: This article is published in Blood.The article was published on 2010-06-03 and is currently open access. It has received 696 citations till now. The article focuses on the topics: Global health & Public health.
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23 Apr 2021
TL;DR: Studies from past decades related to such translational research as the use of hydroxyurea in treatment, as well as the therapeutic promise of red-cell ion-channel blockers, and antiadhesion and anti-inflammatory therapy are highlighted.
Abstract: Sickle-cell disease is one of the most common severe monogenic disorders in the world. Haemoglobin polymerisation, leading to erythrocyte rigidity and vaso-occlusion, is central to the pathophysiology of this disease, although the importance of chronic anaemia, haemolysis, and vasculopathy has been established. Clinical management is basic and few treatments have a robust evidence base. One of the main problems of sickle-cell disease in children is the development of cerebrovascular disease and cognitive impairment, and the role of blood transfusion and hydroxycarbamide for prevention of these complications is starting to be understood. Recurrent episodes of vaso-occlusion and inflammation result in progressive damage to most organs, including the brain, kidneys, lungs, bones, and cardiovascular system, which becomes apparent with increasing age. Most people with sickle-cell disease live in Africa, where little is known about this disease; however, we do know that the disorder follows a more severe clinical course in Africa than for the rest of the world and that infectious diseases have a role in causing this increased severity of sickle-cell disease. More work is needed to develop effective treatments that specifically target pathophysiological changes and clinical complications of sickle-cell disease.
966 citations
TL;DR: Anaemia is disproportionately concentrated in low socioeconomic groups, and that maternal anaemia is strongly associated with child anaemia, and the epidemiology, clinical assessment, pathophysiology, and consequences of anaemia in low-income and middle-income countries are reviewed.
842 citations
TL;DR: These estimates can help countries and the international community gauge the need for appropriate diagnoses and genetic counselling to reduce the number of neonates affected by HbS and could be used for other inherited disorders.
838 citations
TL;DR: The number of SCA births in children under five globally from 2010 to 2050 is estimated and the number of lives that could be be saved following implementation of specific health interventions starting in 2015 is estimated.
Abstract: Background
The global burden of sickle cell anaemia (SCA) is set to rise as a consequence of improved survival in high-prevalence low- and middle-income countries and population migration to higher-income countries. The host of quantitative evidence documenting these changes has not been assembled at the global level. The purpose of this study is to estimate trends in the future number of newborns with SCA and the number of lives that could be saved in under-five children with SCA by the implementation of different levels of health interventions.
720 citations
Cites background from "The inherited diseases of hemoglobi..."
...prevalence and burden of these disorders are still lacking [6,21,37]....
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...Conclusion Multiple warnings regarding the effect of epidemiological and demographic transitions in low-income countries and their consequences for SCA burden have been published [6,66]....
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...Five disorders constitute approximately 25% of these births, two of which, haemoglobinopathy and glucose-6-phosphate dehydrogenase deficiency, are monogenic diseases [6]....
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...It has been suggested that the burden of haemoglobinopathies is going to increase over the coming decades [6,39]....
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...In the long term, in the absence of a definitive treatment for SCA, the best intervention to reduce excess mortality caused by this disorder and to keep public health costs associated with the follow-up care of SCA patients through their lifetime manageable, especially in lowincome countries, is to avoid the births of affected newborns [6,37]....
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15 Mar 2018
TL;DR: SCD is characterized by a remarkable phenotypic complexity; common acute complications are acute pain events, acute chest syndrome and stroke; chronic complications (including chronic kidney disease) can damage all organs.
Abstract: 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. Other pathophysiological mechanisms that contribute to the SCD phenotype are vaso-occlusion and activation of the immune system. SCD is characterized by a remarkable phenotypic complexity. Common acute complications are acute pain events, acute chest syndrome and stroke; chronic complications (including chronic kidney disease) can damage all organs. Hydroxycarbamide, blood transfusions and haematopoietic stem cell transplantation can reduce the severity of the disease. Early diagnosis is crucial to improve survival, and universal newborn screening programmes have been implemented in some countries but are challenging in low-income, high-burden settings.
645 citations
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4,248 citations
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TL;DR: New strategies for specific therapy, including expanded use of chronic transfusions, bone marrow transplantation, and hydroxyurea, now offer hope for prevention of many or all of the hemolytic and vaso-occlusive manifestations of sickle cell disease.
2,745 citations
01 Jan 2006
TL;DR: This first edition provides information on disease control interventions for the most common diseases and injuries in developing countries to help them define essential health service packages and offers preventive and case management guidelines critical to improving the quality of care.
Abstract: This first edition provides information on disease control interventions for the most common diseases and injuries in developing countries to help them define essential health service packages. Life expectancy in developing countries increased from forty to sixty-three years between 1950 and 1990 with a concommitant rise in the incidence of noncommunicable diseases of adults and the elderly. It is still necessary to deal with under nutrition and communicable childhood diseases. Also, new epidemic diseases like AIDS are emerging, and the health of the poor during economic crisis is a growing concern. These health developments intensify the need for better information on the effectiveness and cost of health interventions. The information is intended for health practitioners at every level. Individual chapters offer preventive and case management guidelines critical to improving the quality of care. The need for health sector reform is global. Both developed and developing countries, and centrally planned and market oriented health systems share basic dissatisfaction with the present organization and financing of health care delivery and a conviction that there are better ways to obtain results with the available resources. This book attempts to assist health sector reformers to review existing services and adapt them to provide the most cost effective interventions available.
2,381 citations
TL;DR: To demonstrate a method for using genetic epidemiological data to assess the needs for equitable and cost-effective services for the treatment and prevention of haemoglobin disorders, online databases, reference resources, and published articles are obtained.
Abstract: To demonstrate a method for using genetic epidemiological data to assess the needs for equitable and cost-effective services for the treatment and prevention of haemoglobin disorders. We obtained data on demographics and prevalence of gene variants responsible for haemoglobin disorders from online databases, reference resources, and published articles. A global epidemiological database for haemoglobin disorders by country was established, including five practical service indicators to express the needs for care (indicator 1) and prevention (indicators 2-5). Haemoglobin disorders present a significant health problem in 71% of 229 countries, and these 71% of countries include 89% of all births worldwide. Over 330,000 affected infants are born annually (83% sickle cell disorders, 17% thalassaemias). Haemoglobin disorders account for about 3.4% of deaths in children less than 5 years of age. Globally, around 7% of pregnant women carry b or a zero thalassaemia, or haemoglobin S, C, D Punjab or E, and over 1% of couples are at risk. Carriers and at-risk couples should be informed of their risk and the options for reducing it. Screening for haemoglobin disorders should form part of basic health services in most countries.
1,433 citations
TL;DR: Feature of the transmission biology of P. vivax give this species greater resilience than the less robust Plasmodiumfalciparum in the face of conditions adverse to the transmission of the parasites, therefore, as control measures become more effective, the residual malaria burden is likely increasingly to become that of Pivax.
Abstract: We estimate that the global burden of malaria due to Plasmodium vivax is approximately 70-80 million cases annually. Probably approximately 10-20% of the world's cases of P. vivax infection occur in Africa, south of the Sahara. In eastern and southern Africa, P. vivax represents around 10% of malaria cases but 50% of all malaria cases. About 80-90% of P. vivax outside of Africa occurs in the Middle East, Asia, and the Western Pacific, mainly in the most tropical regions, and 10-15% in Central and South America. Because malaria transmission rates are low in most regions where P. vivax is prevalent, the human populations affected achieve little immunity to this parasite; as a result, in these regions, P. vivax infections affect people of all ages. Although the effects of repeated attacks of P. vivax through childhood and adult life are only rarely directly lethal, they can have major deleterious effects on personal well-being, growth, and development, and on the economic performance at the individual, family, community, and national levels. Features of the transmission biology of P. vivax give this species greater resilience than the less robust Plasmodiumfalciparum in the face of conditions adverse to the transmission of the parasites. Therefore, as control measures become more effective, the residual malaria burden is likely increasingly to become that of P. vivax.
1,018 citations