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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Genetic origin and interaction of the Filipino β0-thalassemia with Hb E and α-thalassemia in a Thai family
TL;DR: Beta globin gene haplotype analysis indicated the same origin of this Filipino β⁰-thalassemia in Asian populations as well as hematologic and molecular characteristics of a hitherto undescribed interaction between the Filipino deletional β⩽-thalassemia with Hb E and α-thalassesmia in a Thai family.
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Unrelated and related donor transplantation for beta-thalassemia major: A single-center experience from India.
TL;DR: The present data show a comparable OS and TFS among RD and MUD group with treosulfan‐based regimen using PBSC grafts, which is comparable to previous studies on matched unrelated donor transplants from India.
Journal ArticleDOI
Quality of life outcomes in thalassaemia patients in Saudi Arabia: a cross-sectional study.
Soheir S. Adam,Soheir S. Adam +1 more
TL;DR: Controlling for other variables, younger age and higher pretransfusion haemoglobin and younger age were associated with better mental HRQoL outcomes in thalassaemia patients, compared to non-professionals.
Journal ArticleDOI
Recommendations for Pregnancy in Rare Inherited Anemias
Ali T. Taher,Achille Iolascon,Charbel F Matar,Rayan Bou-Fakhredin,Lucia De Franceschi,Maria Domenica Cappellini,Wilma Barcellini,Roberta Russo,Immacolata Andolfo,Paul Tyan,Béatrice Gulbis,Yesim Aydinok,Nicholas P. Anagnou,Gabriela Bencaiova,Hannah Tamary,Patricia Aguilar Martinez,Gian Luca Forni,Raffaele Vindigni +17 more
TL;DR: Evidence- and consensus-based guidelines are presented, established by an international group of experts in different fields, including hematologists, gynecologists, general practitioners, medical geneticists, and experts in rare inherited anemias from various European countries for standardized and appropriate choice of therapeutic interventions for the management of pregnancy in rare Inherited Anemias.
Journal ArticleDOI
Molecular and hematological characteristics of a novel form of α-globin gene triplication: The hemoglobin St.Luke's-Thailand [α95(G2)Pro→Arg] or Hb St. Luke's [A2] HBA2
TL;DR: A hitherto un-described α-globin gene triplicated allele with a novel hemoglobin (Hb) variant on α2- globin gene, Hb St.Luke's-Thailand and diagnostics using combined HPLC, capillary electrophoresis and molecular techniques were presented.
References
More filters
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
Seth Berkley,Jose Luis Bobadilla,Robert Hecht,Kenneth Hill,Dean T. Jamison,Christopher J L Murray,Philip Musgrove,Helen Saxenian,Jee-Peng Tan +8 more
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.
Journal ArticleDOI
Effect of Hydroxyurea on the Frequency of Painful Crises in Sickle Cell Anemia
Samuel Charache,Michael L. Terrin,Richard D. Moore,George J. Dover,Franca B. Barton,Susan V. Eckert,Robert P. McMahon,Duane Bonds +7 more
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
Prevention of a First Stroke by Transfusions in Children with Sickle Cell Anemia and Abnormal Results on Transcranial Doppler Ultrasonography
Robert J. Adams,Virgil McKie,Lewis L. Hsu,B Files,Elliott Vichinsky,Charles H. Pegelow,Miguel R. Abboud,Dianne Gallagher,Abdullah Kutlar,Fenwick T. Nichols,Duane Bonds,Donald Brambilla +11 more
TL;DR: Transfusion greatly reduces the risk of a first stroke in children with sickle cell anemia who have abnormal results on transcranial Doppler ultrasonography.
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.