Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-ttngx Total loading time: 0 Render date: 2024-06-01T07:09:49.333Z Has data issue: false hasContentIssue false

Chapter 8 - The Thalassemia Syndromes

from Section 3, Part A - Microcytic Anemias

Published online by Cambridge University Press:  18 April 2018

Edward J. Benz, Jr.
Affiliation:
Dana Farber Cancer Institute
Nancy Berliner
Affiliation:
Brigham and Women's Hospital, Boston
Fred J. Schiffman
Affiliation:
Children's Hospital, Boston
Get access

Summary

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Anemia
Pathophysiology, Diagnosis, and Management
, pp. 48 - 58
Publisher: Cambridge University Press
Print publication year: 2017

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Weatherall, DJ, Clegg, JB. The Thalassaemia Syndromes, 4th ed. Oxford, Blackwell Science; 2001.Google Scholar
Weatherall, DJ. Thalassemia as a global health problem: recent progress toward its control in the developing countries. Ann N Y Acad Sci. 2010; 1202:1723.CrossRefGoogle ScholarPubMed
Patrinos, GP, Giardine, B, Riemer, C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucl Acids Res. 2004;32:D537–541. http://globin.cse.psu.edu/hbvar/menu.htmlGoogle Scholar
Thein, SL. The molecular basis of β-thalassemia. In: Weatherall, DJ, Schechter, AN, Nathan, DG, eds. Hemoglobin and Its Diseases. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 2013:159182.Google Scholar
Verhovsek, MM, Shah, NR, Wilcox, I, et al. Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster. Pediatr Blood Cancer. 2012; 59:941944.CrossRefGoogle ScholarPubMed
Olivieri, NF. The β-Thalassemias. N Engl J Med. 1999; 341:99109.Google Scholar
Krishnamurti, L, Chui, DHK, Dallaire, M, et al. Co-inheritance of α-thalassemia-1 and hemoglobin E/β[0]-thalassemia: important implications for neonatal screening and genetic counseling. J Pediatr. 1998; 132:863865.Google Scholar
Luo, H-Y, Chui, DHK. Diverse haematological phenotypes of β-thalassemia carriers. Ann N Y Acad Sci. 2016; 1368:4955.Google Scholar
Cunningham, MJ, Macklin, EA, Neufeld, EJ, et al. Complications of β-thalassemia major in North America. Blood. 2004; 104:3439.CrossRefGoogle ScholarPubMed
Rund, D, Rachmilewitz, EA. β-Thalassemia. N Engl J Med. 2005; 353:11351146.Google Scholar
Rachmilewitz, EA, Giardina, PJ. How I treat thalassemia. Blood. 2011; 118:34793488.CrossRefGoogle Scholar
Higgs, DR, Engel, JD, Stamatoyannopoulos, G. Thalassemia. Lancet. 2012; 379:373383.CrossRefGoogle Scholar
Centers for Disease Control and Prevention. Advisory Committee on Immunization Practices Recommended Immunization Schedules for Persons Aged 0 Through 18 Years and Adults Aged 19 Years and Older—United States, 2013. MMWR. 2013; 62(Suppl 1).Google Scholar
Verhovsek, M, McFarlane, A. Abnormalities in red blood cells. In: McKean, S, ed. Principles and Practice of Hospital Medicine, 1st ed. McGraw-Hill Professional; 2012.Google Scholar
Sabloff, M, Chandy, M, Wang, Z, et al. HLA-matched sibling bone marrow transplantation for β-thalassemia major. Blood. 2011; 117:17451750.CrossRefGoogle ScholarPubMed
Locatelli, F, Kabbara, N, Ruggeri, A, et al. Outcome of patients with hemoglobinopathies given either cord blood or bone marrow transplantation from an HLA-identical sibling. Blood. 2013; 122:10721078.CrossRefGoogle ScholarPubMed
Musallam, KM, Taher, AT, Cappellini, MD, et al. Clinical experience with fetal hemoglobin induction therapy in patients with β-thalassemia. Blood. 2013; 121:21992212.Google Scholar
Canver, MC, Orkin, SH. Customizing the genome as therapy for the β-hemoglobinopathies. Blood. 2016; 127:25362545.CrossRefGoogle ScholarPubMed
Thompson, AA, Kwiatkowski, J, Rasko, J, et al. Lentiglobin gene therapy for transfusion-dependent β-thalassemia: update from the Northstar Hgb-204 phase 1/2 clinical study. Blood. 2016; 128:Abstract 1175.Google Scholar
Thompson, AA, Kim, HY, Singer, ST, et al. Pregnancy outcomes in women with thalassemia in North America and the UK. Am J Hematol. 2013; 88:771773.CrossRefGoogle Scholar
Cao, A, Kan, YW. The prevention of thalassemia. In: Weatherall, DJ, Schechter, AN, Nathan, DG, eds. Hemoglobin and Its Diseases. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 2013:285299.Google Scholar
Hvistendahl, M. China heads off deadly blood disorder. Science. 2013; 340:677678.Google Scholar
Taher, AT, Musallam, KM, Cappellini, MD, et al. Optimal management of β thalassaemia intermedia. Br J Haematol. 2011; 152:512523.Google Scholar
Fucharoen, S, Weatherall, DJ. The hemoglobin E thalassemias. In: Hemoglobin and Its Diseases. Weatherall, DJ, Schechter, AN, Nathan, DG, eds. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 2013:229243.Google Scholar
Cavazzana-Calvo, M, Payen, E, Negre, O, et al. Transfusion independence and HMGA2 activation after gene therapy of human β-thalassemia. Nature. 2010; 467:318322.CrossRefGoogle Scholar
Chui, DHK, Fucharoen, S, Chan, V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003; 101:791800.Google Scholar
Chen, FE, Ooi, C, Ha, SY, et al. Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med. 2000; 343:544550.CrossRefGoogle ScholarPubMed
Lal, A, Goldrich, ML, Haines, DA, et al. Heterogeneity of hemoglobin H disease in childhood. N Engl J Med. 2011; 364:710718.CrossRefGoogle ScholarPubMed
Tongsong, T, Srisupundit, K, Luewan, S. Outcomes of pregnancies affected by hemoglobin H disease. Int J Gynaecol Obstet. 2009; 104:206208.CrossRefGoogle ScholarPubMed
Lorey, F, Charoenkwan, P, Witkowska, HE, et al. Hb H hydrops foetalis syndrome: a case report and review of literature. Br J Haematol. 2001; 115:7278.Google Scholar
Higgs, DR, Buckle, VJ, Gibbons, R, Steensma, D. Unusual types of α thalassemia. In: Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management, 2nd ed. Steinberg, MH, Forget, BG, Higgs, DR, Weatherall, DJ, Eds. Cambridge: Cambridge University Press; 2009:296320.Google Scholar
Steensma, DP, Gibbons, RJ, Higgs, DR. Acquired α-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood. 2005; 105:443452.Google Scholar
Benz, EJ Jr., Wu, CC, Sohani, AR. Case records of the Massachusetts General Hospital. Case 25-2011. A 62-year-old woman with anemia and paraspinal masses. N Engl J Med. 2011; 365:648658.CrossRefGoogle ScholarPubMed
Chui, DHK, Waye, JS. Hydrops fetalis caused by α-thalassemia: an emerging health care problem. Blood. 1998; 91:22132222.Google Scholar
Lau, Y-L, Chan, L-C, Chan, Y-YA, et al. Prevalence and genotypes of α- and β-thalassemias in Hong Kong: implications for population screening. N Engl J Med. 1997; 336:12981301.CrossRefGoogle Scholar
Peng, CT, Liu, SC, Peng, YC, et al. Distribution of thalassemias and associated hemoglobinopathies identified by prenatal diagnosis in Taiwan. Blood Cells Mol Dis. 2013; 51:138141.CrossRefGoogle ScholarPubMed
Songdej, D, Babbs, C, Higgs, DR, et al. An international registry of survivors with Hb Bart’s hydrops fetalis syndrome. Blood. 2017; 129:12511259.Google Scholar
Leung, KY, Cheong, KB, Lee, CP, et al. Ultrasonographic prediction of homozygous α[0]-thalassemia using placental thickness, fetal cardiothoracic ratio and middle cerebral artery Doppler: alone or in combination? Ultrasound Obstet Gynecol. 2010; 35:149154.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×