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Open AccessJournal ArticleDOI

Inherited haemoglobin disorders: an increasing global health problem.

TLDR
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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Journal ArticleDOI

Molecular Epidemiological Characterization and Health Burden of Thalassemias in the Chaoshan Region, People’s Republic of China

TL;DR: The results indicated a higher prevalence of thalassemia with a heterozygote frequency of 6.29% in Chaozhou, followed by Shantou (3.37%) and a rare mutation, Cap +1 (A>C) (HBB: c-50A>A) was described for the first time in the Chaoshan region.
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Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands

TL;DR: To examine the feasibility of standardized hemoglobinopathy (HBP) carrier testing for pregnant women in The Netherlands in addition to the standard anemia screening.
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A case study of haemoglobinopathy screening in the Netherlands: witnessing the past, lessons for the future.

TL;DR: This study aimed to explore the decision-making process of the past: why was the introduction of a screening programme for haemoglobinopathy considered to be untimely, and did ethnicity play a role given the history in other countries surrounding the introduction in the Netherlands?
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Multiple Testing in the Context of Gene Discovery in Sickle Cell Disease Using Genome-Wide Association Studies:

TL;DR: The purpose of the review is to examine the methodologies employed in dealing with multiple testing in the context of gene discovery using GWAS in sickle cell disease complications.
References
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Journal ArticleDOI

Sickle cell disease

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.

World development report 1993 : investing in health

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.
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Effect of Hydroxyurea on the Frequency of Painful Crises in Sickle Cell Anemia

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.
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Pathogenesis and Treatment of Sickle Cell Disease

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.