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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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Prevalence of β-thalassemic patients associated with consanguinity and anti-HCV - antibody positivity - a cross sectional study.

TL;DR: Higher total consanguinity rate and coefficient of inbreeding among thalassemic patients indicated genetic basis of the disease, however, higher anti-HCV positivity among patients reflects the poor facilities of transfusion.
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The association between malaria parasitaemia, erythrocyte polymorphisms, malnutrition and anaemia in children less than 10 years in Senegal: a case control study

TL;DR: Malaria parasitaemia, stunting and haemoglobin genetic disorders represented the major causes of anaemia among study participants and could be achieved by developing integrated interventions targeting both malaria and malnutrition.
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State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies.

TL;DR: State‐of‐the‐art tools are usually available in centers that also provide prenatal diagnosis and should consist of gap‐PCR for the common deletions, direct DNA sequencing for all kind of point‐mutations and the capacity to uncover novel or rare mutations or disease mechanisms.
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Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients.

TL;DR: A gene-centric association study in 1514 African American participants from the Cooperative Study of Sickle Cell Disease for acute chest syndrome (ACS) and painful crisis provided new leads to gaining a better understanding of clinical variability in SCD, a "simple" monogenic disease.
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The effect of hydroxyurea on compound heterozygotes for sickle cell-hemoglobin D-Punjab—A single centre experience in eastern India

TL;DR: The role of hydroxyurea in the treatment of patients with HbSD‐Punjab, a rare hemoglobinopathy with phenotypic expression similar to that of sickle cell anemia is unknown.
References
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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.