The inherited diseases of hemoglobin are an emerging global health burden

Blood - Tập 115 - Trang 4331-4336 - 2010
David.J. Weatherall1
1Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom

Tóm tắt

Abstract It is estimated that in excess of 300 000 children are born each year with a severe inherited disorder of hemoglobin and that approximately 80% of these births occur in low- or middle-income countries. As these countries go through an epidemiologic transition, with a reduction in childhood and infant mortality due to improved public health measures, babies who would have previously died of these diseases before they were recognized are now surviving to present for diagnosis and treatment. Hence, they are presenting an increasing global health burden. Because of their uneven distribution in high-frequency populations, reflecting their complex population genetics, the true magnitude of this burden is still unknown. In many poor countries there are virtually no facilities for the diagnosis and management of these conditions, and even in richer countries there are limited data about their frequency, clinical course, or mortality. Without this information, it will be impossible to persuade governments about the increasing importance of these diseases. The situation will only be improved by concerted action on the part of the hematology community of the richer countries together with input from the major international health organizations and funding agencies.

Tài liệu tham khảo

Christianson, 2006, March of Dimes Global Report on Birth Defects Modell, 2008, Global epidemiology of haemoglobin disorders and derived service indicators., Bull World Health Organ, 86, 480, 10.2471/BLT.06.036673 Malaria Atlas Project, MAP Accessed April 20, 2010 http://www.map.ox.ac.uk Livingstone, 1985, Frequencies of Hemoglobin Variants Weatherall, 2001, The Thalassaemia Syndromes, 4th ed, 10.1002/9780470696705 Weatherall, 2006, Inherited disorders of hemoglobin., Disease Control Priorities in Developing Countries, 2nd ed, 663 de Silva, 2000, Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Sri Lanka Thalassaemia Study Group., Lancet, 355, 786, 10.1016/S0140-6736(99)08246-X Colah, Epidemiology of beta-thalassaemia in Western India: mapping the frequencies and mutations in sub-regions of Maharashtra and Gujarat [published online ahead of print March 3, 2010]., Br J Haematol Bittles, 1991, Reproductive behavior and health in consanguineous marriages., Science, 252, 789, 10.1126/science.2028254 Weatherall, 2008, Genetic variation and susceptibility to infection: the red cell and malaria., Br J Haematol, 141, 276, 10.1111/j.1365-2141.2008.07085.x Williams, 2006, Red blood cell defects and malaria., Mol Biochem Parasitol, 149, 121, 10.1016/j.molbiopara.2006.05.007 Briet, 2005, Maps of the Sri Lanka malaria situation preceding the tsunami and key aspects to be considered in the emergency phase and beyond., Malar J, 4, 8, 10.1186/1475-2875-4-8 Williams, 2005, Negative epistasis between the malaria-protective effects of alpha+-thalassemia and the sickle cell trait., Nat Genet, 37, 1253, 10.1038/ng1660 Penman, 2009, Epistatic interactions between genetic disorders of hemoglobin can explain why the sickle-cell gene is uncommon in the Mediterranean., Proc Natl Acad Sci U S A, 106, 21242, 10.1073/pnas.0910840106 O'Donnell, 2009, Interaction of malaria with a common form of severe thalassemia in an Asian population., Proc Natl Acad Sci U S A, 106, 18716, 10.1073/pnas.0910142106 Williams, 1996, High incidence of malaria in alpha-thalassaemic children., Nature, 383, 522, 10.1038/383522a0 Population Reference Bureau World Population Data Sheet. Accessed April 16, 2010 http://www.prb.org Serjeant, 2001, Sickle Cell Disease, 3rd ed Williams, 2009, Bacteraemia in Kenyan children with sickle-cell anaemia: a retrospective cohort and case-control study., Lancet, 374, 1364, 10.1016/S0140-6736(09)61374-X Kulozik, 1986, Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation., Am J Hum Genet, 39, 239 Kar, 1986, Sickle cell disease in Orissa State, India., Lancet, 2, 1198, 10.1016/S0140-6736(86)92205-1 Rahimi, 2006, Implications of the genetic epidemiology of globin haplotypes linked to the sickle cell gene in southern Iran., Hum Biol, 78, 719, 10.1353/hub.2007.0016 Weatherall, Thalassemia as a global health problem: recent progress towards its control in the developing countries., Ann N Y Acad Sci Chernoff, 1956, Studies on hemoglobin E, I: the clinical, hematologic, and genetic characteristics of the hemoglobin E syndromes., J Lab Clin Med, 47, 455 Fucharoen, 1997, Hemoglobinopathies in Southeast Asia: molecular biology and clinical medicine., Hemoglobin, 21, 299, 10.3109/03630269709000664 Olivieri, 2008, Studies in haemoglobin E beta-thalassaemia., Br J Haematol, 141, 388, 10.1111/j.1365-2141.2008.07126.x Stamatoyannopoulos, 1973, Problems of screening and counselling in the hemoglobinopathies., IVth International Congress on Birth Defects, 268 Canali, 2002, Lessons from anti-thalassemia campaigns in Italy, before prenatal diagnosis., Med Secoli, 14, 739 Mendis, 2001, The neglected burden of Plasmodium vivax malaria., Am J Trop Med Hyg, 64, 97, 10.4269/ajtmh.2001.64.97 World Health Organization, 2002, Genomics and World Health WHO-TIF Meeting, 2007, Management of Haemoglobin Disorders. Global Burden of Disease. Accessed April 1, 2010 http://www.globalburden.org
Thông tin
Thông tin xuất bản

Blood

Tập 115

4331-4336

Thông tin tác giả