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.read more
Citations
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Journal ArticleDOI
Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil
Gustavo Henrique de Medeiros Alcoforado,Christiane Medeiros Bezerra,Telma Maria Araújo Moura Lemos,Denise M. Oliveira,Elza Miyuki Kimura,Fernando Ferreira Costa,Maria de Fátima Sonati,Tereza Maria Dantas de Medeiros +7 more
TL;DR: In this article, the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years of age, were analyzed.
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Sickle cell anaemia: haemorheological aspects.
Maria Cristina Martorana,Giorgio Mojoli,Paolo Cianciulli,Anna Tarzia,Emilio Mannella,Patrizia Caprari +5 more
TL;DR: The rheologic impairment of Sc blood is confirmed by evaluating the viscoelastic properties of sickle cells in oscillating harmonic sinusoidal mode and a comparison between patients with different severity of the disease, with transfusion dependence or without transfusions dependence has been carried out.
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Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR)
TL;DR: An assay that detects both point mutations and larger rearrangements of the HBB gene is developed, which is quick, sensitive, specific and cost effective making it suitable as an initial screening test that can be used for highly heterogeneous cohorts.
Posted Content
An economic review of the national screening policy to prevent thalassemia major in Iran
N. Ghotobi,T. Tsukatani +1 more
TL;DR: The alternative method of the current screening program in Iran is outlined and discussed especially with respect to the "cost-effectiveness" issue, along with some pitfalls of the general plan and the techniques under use.
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Nutritional Anemia in Developing Countries
TL;DR: Cut-offs are certainly not absolute or unequivocal, rather, they should be regarded as a proposed value that is accepted by consensus, and are sometimes challenged if found insufficiently accurate.
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