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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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Citations
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HBB FSC 36-37 (-T) Gene Mutation Detection in Carriers of Thalassemia Minor Using High Resolution Melting Analysis

TL;DR: High-resolution melting analysis could correctly identify all carriers of FSC 36-37 (-T) from who did not have this mutation, indicating HRM is a technique associated with high sensitivity and specificity.

Vascular Function Intervention Trial in sickle cell disease (V-FIT): Trial Protocol

TL;DR: This protocol outlines procedures for capturing participant information as part of the V-FIT study and adheres to the principles outlined in the International Conference on Harmonisation Good Clinical Practice guidelines, protocol and all applicable local regulations.

بررسی ارتباط پلیمورفیسم ژن bcl11a با میزان بیان ژن گاما گلوبین و مقدار هموگلوبین f در افراد مبتلا به بیماری بتا تالاسمی اینترمدیا در جمعیت اصفهان

TL;DR: Genotyping study of BCL11A polymorphism showed that in the presence of T allele in polymorphic site, the values of HbF and Hb would be increased, however, that increase was not statistically significant.
Journal ArticleDOI

Coinheritance of α- and β-Thalassemia with a Novel Mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese Family.

TL;DR: A novel mutation is reported in a Chinese proband, who was also an α-thalassemia (α-thal) Southeast Asian (αα/– –SEA) deletion carrier and displayed characteristic hematological features of β-thal syndrome, which results in a frameshift that creates a premature stop codon at codon 90 of the HBB gene.
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.