Beta-thalassemia

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Antonio Cao, Renzo Galanello

Abstract

Beta-thalassemia is caused by the reduced (beta) or absent (beta) synthesis of the beta globin chains of the hemoglobin tetramer. Three clinical and hematological conditions of increasing severity are recognized, i.e., the beta-thalassemia carrier state, thalassemia intermedia, and thalassemia major. The beta-thalassemia carrier state, which results from heterozygosity for beta-thalassemia, is clinically asymptomatic and is defined by specific hematological features. Thalassemia major is a severe transfusion-dependent anemia. Thalassemia intermedia comprehend a clinically and genotypically very heterogeneous group of thalassemia-like disorders, ranging in severity from the asymptomatic carrier state to the severe transfusion-dependent type. The clinical severity of beta-thalassemia is related to the extent of imbalance between the alpha and nonalpha globin chains. The beta globin (HBB) gene maps in the short arm of chromosome 11, in a region containing also the delta globin gene, the embryonic epsilon gene, the fetal A-gamma and G-gamma genes, and a pseudogene (psiB1). Beta-thalassemias are heterogeneous at the molecular level. More than 200 disease-causing mutations have been so far identified. The majority of mutations are si...Continue Reading

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References

Mar 1, 1992·British Journal of Haematology·S L Thein
Jan 1, 1990·Acta Haematologica·D A PapanastasiouN G Beratis
Dec 1, 1987·Blood Reviews·J S WainscoatD J Weatherall
Aug 1, 1970·Radiology·K W DeweyV C Canale
Jun 1, 1982·Journal of Medical Genetics·A CaoL F Bernini
Jun 1, 1983·British Journal of Haematology·E KanavakisW G Wood
Mar 1, 1983·British Journal of Haematology·J S WainscoatD J Weatherall
Feb 1, 1984·British Journal of Haematology·S L TheinA V Hoffbrand
Aug 1, 1981·The Journal of Pediatrics·C Borgna-PignattiC Gatti
Mar 1, 1994·Blood Reviews·A CaoM C Rosatelli
Mar 1, 1993·Baillière's Clinical Haematology·J FlintJ B Clegg
Oct 1, 1996·American Journal of Hematology·A C KattamisP Fortina
Oct 23, 1997·Genome Research·D WeatherallD Kwiatkowski
Jul 21, 1998·Annals of the New York Academy of Sciences·D C ReesS L Thein
Nov 25, 1998·British Journal of Haematology·B WonkeA V Hoffbrand
Jan 14, 1999·British Journal of Haematology·B Wonke
Apr 7, 1999·British Journal of Haematology·M D CappelliniG Fiorelli
Dec 14, 1999·European Journal of Pediatrics·R GalanelloA Cao
Jun 29, 2000·Baillière's Clinical Haematology·A CaoM C Rosatelli
Dec 21, 2000·British Journal of Haematology·S PerrottaA Iolascon
Dec 21, 2000·British Journal of Haematology·R Dresner PollackA W Goldfarb
Dec 21, 2000·British Journal of Haematology·A PipernoC Camaschella
Jan 5, 2002·Blood·Amiram Eldor, Eliezer A Rachmilewitz
Jan 26, 2002·Lancet·C BadensD Lena-Russo
Feb 15, 2002·British Journal of Haematology·R GalanelloA Cao
Jul 9, 2002·British Journal of Haematology·Adriana CeciFernando Tricta
Jul 11, 2002·Obstetrics and Gynecology Clinics of North America·Antonio CaoRenzo Galanello
Aug 1, 2002·Blood·Alessandro Maria VannucchiAnna Rita Migliaccio

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Citations

Oct 20, 2012·Annals of Hematology·Nattawara ChaneiamSaovaros Svasti
Aug 25, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michael KabackDavid L Rimoin
Oct 17, 2012·Psychiatry and Clinical Neurosciences·Gayatri SarafY C Janardhan Reddy
Dec 14, 2011·BMC Medical Genetics·Ashley J R Carter, Andrew Q Nguyen
Sep 21, 2013·Orphanet Journal of Rare Diseases·Mohamad H QariShaker A Mousa
Mar 13, 2014·International Journal of Hematology·Elena A SereginaFazoil I Ataullakhanov
Jan 16, 2014·European Journal of Human Genetics : EJHG·Renata Bordeira-CarriçoCarla Oliveira
Aug 15, 2014·Philosophy, Ethics, and Humanities in Medicine : PEHM·Salvatore PisuGiorgio La Nasa
Feb 25, 2015·Hemoglobin·Jabbar KhanNaseruddin Hoti
Feb 27, 2013·Hemoglobin·Ebrahim Miri-MoghaddamMehrnaz Naroie-Nejad
Aug 28, 2012·Hemoglobin·Ebrahim Miri-Moghaddam, Azita Zadeh-Vakili
Oct 3, 2013·Expert Review of Hematology·Ali T TaherM Domenica Cappellini
Mar 15, 2012·Expert Opinion on Biological Therapy·Roberto Gambari
Feb 11, 2016·The Canadian Journal of Cardiology·Juthamas KhamseekaewNipon Chattipakorn
Jan 26, 2016·Critical Reviews in Oncology/hematology·John B PorterNorbert Gattermann
Feb 14, 2013·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·R HladunC Díaz de Heredia
May 9, 2015·Mass Spectrometry Reviews·Daniela OmbroneGiancarlo la Marca
Nov 1, 2015·Clinical Therapeutics·Caterina Borgna-Pignatti, Maria Marsella
Jan 11, 2011·European Journal of Pharmaceutics and Biopharmaceutics : Official Journal of Arbeitsgemeinschaft Für Pharmazeutische Verfahrenstechnik E.V·Stefanie GeisslerMatthias Brandsch
Dec 10, 2015·International Ophthalmology·Samira HeydarianHosein Karami
Dec 4, 2015·Indian Journal of Ophthalmology·Reza JafariAsad Allah Farrokh Far
Mar 29, 2016·Rheumatology·Michael HughesAnthony Kenneth Peter Jones
Sep 24, 2015·Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases·Carinna HockhamBridget S Penman
Apr 12, 2016·International Journal of Pediatric Otorhinolaryngology·R Di MauroS Di Girolamo
Jun 22, 2011·Prenatal Diagnosis·E Miri-MoghaddamA Khazaei Feizabad
Nov 3, 2010·Annals of the New York Academy of Sciences·Vijay G SankaranJoel N Hirschhorn
Jan 22, 2011·British Journal of Haematology·Ali T TaherDavid J Weatherall
Feb 18, 2012·International Journal of Laboratory Hematology·M SivalingamR Jamal

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