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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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Journal ArticleDOI

Prevalence of β-Thalassemia Trait and Abnormal Hemoglobins in Sanliurfa Province in Southeast Turkey

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.
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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.

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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Detection and mapping of haemoglobin variants in blood fingermarks by MALDI MS for suspect "profiling".

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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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.