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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The XmnI Gγ polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 β-thalassemia intermedia patients
Thi Khanh Tien Nguyen,Philippe Joly,Philippe Joly,Claire Bardel,Mustapha Moulsma,Nathalie Bonello-Palot,Alain Francina +6 more
TL;DR: It is suggested that the BCL11A and HBS1L-MYB loci have a minor effect on HbF level compared to the XmnI QTL in beta-thalassemia intermedia patients.
Journal ArticleDOI
Genetic Hemoglobin Disorders, Infection, and Deficiencies of Iron and Vitamin A Determine Anemia in Young Cambodian Children
Joby George,Miriam Yiannakis,Barbara Main,Robyn Devenish,Courtney Anderson,Ung Sam An,Sheila M. Williams,Rosalind S. Gibson +7 more
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.
Lucia De Franceschi,Mariarita Bertoldi,Alessandro Matte,Sara Santos Franco,Antonella Pantaleo,Emanuela Ferru,Franco Turrini +6 more
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.
Eman S. Alsaeed,Ghada N. Farhat,Abdullah M. Assiri,Ziad A. Memish,Elawad M. Ahmed,Mohammad Y. Saeedi,Mishal F. Al-Dossary,Hisham Bashawri +7 more
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.
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