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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

Genetic Hemoglobin Disorders, Infection, and Deficiencies of Iron and Vitamin A Determine Anemia in Young Cambodian Children

TL;DR: In Cambodia, where a high prevalence of genetic Hb disorders exists, ferritin and sTfR are of limited use for assessing the prevalence of iron deficiency, and new low-cost methods for detecting genetic HB disorders are urgently required.
Journal ArticleDOI

Oxidative stress and β-thalassemic erythroid cells behind the molecular defect.

TL;DR: The changes in β-thalassemic red cell homeostasis related to the oxidative stress and its connection with production of microparticles and with malaria infection are discussed and novel cytoprotective systems such as ASHP, eIF2α, and peroxiredoxin-2 have been suggested to be important against ROS.
Journal ArticleDOI

Distribution of hemoglobinopathy disorders in Saudi Arabia based on data from the premarital screening and genetic counseling program, 2011-2015.

TL;DR: Further improvement in preventive measures in high-risk regions, and enhanced community awareness to provide the highest rate reduction for these disorders are recommended.
Journal ArticleDOI

The Search for Genetic Modifiers of Disease Severity in the β-Hemoglobinopathies

TL;DR: The most important factors to consider when planning an experiment to find associations between β-hemoglobinopathy-related complications and DNA sequence variants are discussed, with a focus on how to successfully perform a genome-wide association study.
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.
Journal ArticleDOI

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.