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Journal ArticleDOI

Inherited haemoglobin disorders: an increasing global health problem.

24 Oct 2001-Bulletin of The World Health Organization (World Health Organization)-Vol. 79, Iss: 8, pp 704-712
TL;DR: It takes considerable time to establish expertise in developing programmes for the control and management of these conditions, and the lessons learned in developed countries will need to be transmitted to those countries in which they occur at a high frequency.
Abstract: Despite major advances in our understanding of the molecular pathology, pathophysiology, and control and management of the inherited disorders of haemoglobin, thousands of infants and children with these diseases are dying through lack of appropriate medical care. This problem will undoubtedly increase over the next 20 years because, as the result of a reduction in childhood mortality due to infection and malnutrition, more babies with haemoglobin disorders will survive to present for treatment. Although WHO and various voluntary agencies have tried to disseminate information about these diseases, they are rarely mentioned as being sufficiently important to be included in setting health care priorities for the future. It takes considerable time to establish expertise in developing programmes for the control and management of these conditions, and the lessons learned in developed countries will need to be transmitted to those countries in which they occur at a high frequency.

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Citations
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Journal ArticleDOI
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

Journal ArticleDOI
TL;DR: Children's and women's haemoglobin statuses improved in some regions where concentrations had been low in the 1990s, leading to a modest global increase in mean haemochemistry and a reduction in anaemia prevalence between 1995 and 2011.

1,335 citations

Journal ArticleDOI
TL;DR: The challenge for the next decade is to build the global epidemiological infrastructure required for statistically robust genomewide association analysis, as a way of discovering novel mechanisms of protective immunity that can be used in the development of an effective malaria vaccine.
Abstract: Malaria is a major killer of children worldwide and the strongest known force for evolutionary selection in the recent history of the human genome. The past decade has seen growing evidence of ethnic differences in susceptibility to malaria and of the diverse genetic adaptations to malaria that have arisen in different populations: epidemiological confirmation of the hypotheses that G6PD deficiency, α + thalassemia, and hemoglobin C protect against malaria mortality; the application of novel haplotype-based techniques demonstrating that malaria-protective genes have been subject to recent positive selection; the first genetic linkage maps of resistance to malaria in experimental murine models; and a growing number of reported associations with resistance and susceptibility to human malaria, particularly in genes involved in immunity, inflammation, and cell adhesion. The challenge for the next decade is to build the global epidemiological infrastructure required for statistically robust genomewide association analysis, as a way of discovering novel mechanisms of protective immunity that can be used in the development of an effective malaria vaccine.

1,002 citations


Cites background from "Inherited haemoglobin disorders: an..."

  • ...Regulatory Variation of Globin Genes The thalassemias are the most common Mendelian diseases of humans and constitute a major global health problem (Weatherall and Clegg 2001)....

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  • ...The thalassemias are the most common Mendelian diseases of humans and constitute a major global health problem (Weatherall and Clegg 2001)....

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Journal ArticleDOI
TL;DR: It would be timely to develop a range of iron bioavailability factors based not only on diet composition but also on subject characteristics, such as iron status and prevalence of obesity.

949 citations

Journal ArticleDOI
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

References
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Journal ArticleDOI
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 Jun 1993
TL;DR: This report examines the controversial questions surrounding health care and health policy and advocates a threefold approach to health policy for governments in developing countries and in the formerly socialist countries, based in large part on innovative research.
Abstract: This is the sixteenth in the annual series and examines the interplay between human health, health policy and economic development. Because good health increases the economic productivity of individuals and the economic growth rate of countries, investing in health is one means of accelerating development. More important, good health is a goal in itself. During the past forty years life expectancy in the developing world has risen and child mortality has decreased, sometimes dramatically. But progress is only one side of the picture. The toll from childhood and tropical diseases remains high even as new problems - including AIDS and the diseases of aging populations - appear on the scene. And all countries are struggling with the problems of controlling health expenditures and making health care accessible to the broad population. This report examines the controversial questions surrounding health care and health policy. Its findings are based in large part on innovative research, including estimation of the global burden of disease and the cost-effectiveness of interventions. These assessments can help in setting priorities for health spending. The report advocates a threefold approach to health policy for governments in developing countries and in the formerly socialist countries. First, to foster an economic environment that will enable households to improve their own health. Policies for economic growth that ensure income gains for the poor are essential. So, too, is expanded investment in schooling, particulary for girls. Second, redirect government spending away from specialized care and toward such low-cost and highly effective activities such as immunization, programs to combat micronutrient deficiencies, and control and treatment of infectious diseases. By adopting the packages of public health measures and essential clinical care dsecribed in the report, developing countries could reduce their burden of disease by 25 percent. Third, encourage greater diversity and competition in the provision of health services by decentralizing government services, promoting competitive procurement practices, fostering greater involvement by nongovernmental and other private organizations, and regulating insurance markets. These reforms could translate into longer, healthier, and more productive lives for people around the world, and especially for the more than 1 billion poor. As in previous editions, this report includes the World Development Indicators, which give comprehensive, current data on social and economic development in more than 200 countries and territories.

2,402 citations

Journal ArticleDOI
TL;DR: Hydroxyurea therapy can ameliorate the clinical course of sickle cell anemia in some adults with three or more painful crises per year and Maximal tolerated doses of hydroxyurea may not be necessary to achieve a therapeutic effect.
Abstract: Background In a previous open-label study of hydroxyurea therapy, the synthesis of fetal hemoglobin increased in most patients with sickle cell anemia, with only mild myelotoxicity. By inhibiting sickling, increased levels of fetal hemoglobin might decrease the frequency of painful crises. Methods In a double-blind, randomized clinical trial, we tested the efficacy of hydroxyurea in reducing the frequency of painful crises in adults with a history of three or more such crises per year. The trial was stopped after a mean follow-up of 21 months. Results Among 148 men and 151 women studied at 21 clinics, the 152 patients assigned to hydroxyurea treatment had lower annual rates of crises than the 147 patients given placebo (median, 2.5 vs. 4.5 crises per year, P<0.001). The median times to the first crisis (3.0 vs. 1.5 months, P = 0.01) and the second crisis (8.8 vs. 4.6 months, P<0.001) were longer with hydroxyurea treatment. Fewer patients assigned to hydroxyurea had chest syndrome (25 vs. 51, P<0.001), and...

2,062 citations


"Inherited haemoglobin disorders: an..." refers background in this paper

  • ...There is also evidence that the frequency of painful vaso-occlusive episodes can be reduced by the administration of hydroxyurea ( 27 ), although it is still uncertain Table 1. Global summary of approximate numbers of annual births of babies with severe haemoglobin disorders (modified from ref....

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Journal ArticleDOI
TL;DR: Transfusion greatly reduces the risk of a first stroke in children with sickle cell anemia who have abnormal results on transcranial Doppler ultrasonography.
Abstract: Background Blood transfusions prevent recurrent stroke in children with sickle cell anemia, but the value of transfusions in preventing a first stroke is unknown. We used transcranial Doppler ultrasonography to identify children with sickle cell anemia who were at high risk for stroke and then randomly assigned them to receive standard care or transfusions to prevent a first stroke. Methods To enter the study, children with sickle cell anemia and no history of stroke had to have undergone two transcranial Doppler studies that showed that the time-averaged mean blood-flow velocity in the internal carotid or middle cerebral artery was 200 cm per second or higher. The patients were randomly assigned to receive standard care or transfusions to reduce the hemoglobin S concentration to less than 30 percent of the total hemoglobin concentration. The incidence of stroke (cerebral infarction or intracranial hemorrhage) was compared between the two groups. Results A total of 130 children (mean [±SD] age, 8.3±3.3 ye...

1,653 citations


"Inherited haemoglobin disorders: an..." refers background in this paper

  • ...There have also been advances in the control of stroke by the use of long-term transfusion regimens ( 25 ), and with an increased understanding of the mechanisms of pulmonary and splenic sequestration crises, and the judicious use of exchange or top-up transfusion, the management of these life-threatening complication is improving (26)....

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Journal ArticleDOI
TL;DR: A wealth of information is produced on the mechanisms by which a single base substitution in the gene encoding the human β-globin subunit, with the resulting replacement of β6 glutamic acid by valine, leads to the protean and devastating clinical manifestations of sickle cell disease.
Abstract: In 1949, the discovery that sickle hemoglobin (α2 βS2) has an abnormal electrophoretic mobility prompted Linus Pauling and his colleagues to christen sickle cell anemia “a molecular disease.”1 The ensuing five decades have produced a wealth of information on the mechanisms by which a single base substitution in the gene encoding the human β-globin subunit, with the resulting replacement of β6 glutamic acid by valine, leads to the protean and devastating clinical manifestations of sickle cell disease. Until recently there was a disappointing lag in the application of this knowledge to the design of safe and effective . . .

1,008 citations


"Inherited haemoglobin disorders: an..." refers background in this paper

  • ...The clinical features of sickle-cell disorders reflect the propensity of the red cells to assume a sickled configuration when blood is oxygenated ( 6 , 7), leading to a shortened red-cell survival and a tendency to vaso-occlusion....

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