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
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Molecular Epidemiological Characterization and Health Burden of Thalassemias in the Chaoshan Region, People’s Republic of China
Xiang-bin Zheng,Min Lin,Hui Yang,Mei-Chen Pan,Yingmu Cai,Jiao-Ren Wu,Fen Lin,Xiao-Fen Zhan,Zhao-Yun Luo,Hui-Tian Yang,Li-Ye Yang +10 more
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.
Journal ArticleDOI
Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands
Judith O. Kaufmann,Gönül Demirel-Güngör,Anke Selles,Cisca Hudig,Gerard Steen,Gabrielle Ponjee,Cas Holleboom,Liv M. Freeman,Joris Hendiks,Pierre W. Wijermans,Piero C. Giordano,Jean-Louis H. Kerkhoffs +11 more
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.
Journal ArticleDOI
A case study of haemoglobinopathy screening in the Netherlands: witnessing the past, lessons for the future.
Suze Jans,Carla G. van El,Eddy Houwaart,Marjan J. Westerman,Rien Janssens,Antoinette Leonarda Maria Lagro-Janssen,Anne Marie C. Plass,Martina C. Cornel +7 more
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?
Journal ArticleDOI
Multiple Testing in the Context of Gene Discovery in Sickle Cell Disease Using Genome-Wide Association Studies:
Kevin H.M. Kuo,Kevin H.M. Kuo +1 more
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.
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