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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Prevalence of β-Thalassemia Trait and Abnormal Hemoglobins in Sanliurfa Province in Southeast Turkey
Adnan Incebiyik,Ahmet Genc,Nese Gul Hilali,Aysun Camuzcuoglu,Hakan Camuzcuoglu,Avni Kilic,Mehmet Vural +6 more
TL;DR: The frequency of the β-thal trait is at a high-risk level compared to other cities in Turkey, and a premarital screening program would be of great value in informing parents about offspring withβ-thal.
Journal ArticleDOI
Identification of thalassemia gene cluster deletion by long-read whole-genome sequencing (LR-WGS).
TL;DR: In this paper, seven thalassemia patients were selected to perform whole-genome sequencing (WGS) with long read at 400 bp to make accurate detection for thalassia deletions.
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Invasive prenatal diagnosis of α-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15 years of experience.
Ketong Lai,Shu-quan Li,Wei-xiong Lin,Dezhai Yang,Wen-qiang Chen,Min-qing Li,Lihong Pang,Ping Chen +7 more
TL;DR: Examination of experiences with invasive prenatal diagnosis of α-thalassemia in the Guangxi Zhuang Autonomous Region suggests that carrier screening, molecular diagnostics, genetic counselling, and prenatal diagnosis are effective measures to prevent Hb Bart’s hydrops fetalis syndrome.
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"Pain is Subjective": A Mixed-Methods Study of Provider Attitudes and Practices Regarding Pain Management in Sickle Cell Disease Across Three Countries.
Kearsley A. Stewart,Monika Parshad-Asnani,Ambroise Wonkam,Ambroise Wonkam,John Bollinger,Valentina Josiane Ngo Bitoungui,Edmond Wonkam-Tingang,Jill Powell,Kathia Desronvil,Kathryn R.K. Benson,Abby Clark,Madelaine Katz,Bianca Martin,Carolyn Peterseim,Christina L. Williams,Nana Young,Nirmish Shah,Paula Tanabe,Michael A. Babyak,Charmaine D.M. Royal,Charmaine D.M. Royal +20 more
TL;DR: Overall, findings reveal that SCD provider attitudes toward their patients differed across sites, yet at all three sites, treating SCD pain is multidimensional.
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Detection and mapping of haemoglobin variants in blood fingermarks by MALDI MS for suspect "profiling".
Cameron Heaton,Matthias Witt,Laura M. Cole,Jason Eyre,Simon Tazzyman,Richard McColm,Simona Francese +6 more
TL;DR: In this paper, a Matrix Assisted Laser Desorption Ionisation Mass Spectrometry Profiling (MALDI MSP and Imaging) has been used for the detection of blood and its provenance in stains and fingermarks.
References
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