Cooley TB, Lee P (1900) Transactions of the American pediatric society. Edinb Med J 24:1426. https://doi.org/10.1001/jama.1898.02440760054013
Cooley TB, Witwer ER, Lee P (1927) Anemia in children: with splenomegaly and peculiar changes in the bones report of cases. Am J Dis Child 34(3):347–363. https://doi.org/10.1001/archpedi.1927.04130210022002
Whipple GH, Bradford WL (1936) Mediterranean disease-thalassemia(erythroblastic anemia of cooley). J Pediatr 9(3):279–311. https://doi.org/10.1016/S0022-3476(36)80021-3
Rachmilewitz EA, Giardina PJ (2011) How I treat thalassemia. Blood 118(13):3479–3488. https://doi.org/10.1182/blood-2010-08-300335
Article PubMed CAS Google Scholar
Oliveros O, Trachtenberg F, Haines D et al (2013) Pain over time and its effects on life in thalassemia. Am J Hematol 88(11):939–943. https://doi.org/10.1002/ajh.23565
Galanello R, Origa R, Galanello R, Origa R (2010) Beta-thalassemia. Orphanet J Rare Dis 5(1):11. https://doi.org/10.1186/1750-1172-5-11
Article PubMed PubMed Central Google Scholar
Vaughan JM, Turnbull HM (1936) The anaemias, (2d edn). Oxford Medical Publications. Oxford University Press, H. Milford, xiv, 309, p 1
Musallam KM, Rivella S, Vichinsky E, Rachmilewitz EA (2013) Non-transfusion-dependent thalassemias. Haematologica 98(6):833–844. https://doi.org/10.3324/haematol.2012.066845
Article PubMed PubMed Central CAS Google Scholar
De Sanctis V, Kattamis C, Canatan D et al (2017) β-Thalassemia distribution in the old world: an ancient disease seen from a historical standpoint. Mediterr J Hematol I 9:e2017018. https://doi.org/10.4084/MJHID.2017.018
Gibbs G (2009) Separating thalassemia trait and iron deficiency by even simpler inspection. Am J Clin Pathol 132(4):643–644. https://doi.org/10.1309/AJCPORRCP16WILSB
Sirachainan N, Chuansumrit A, Kadegasem P, Sasanakul W, Wongwerawattanakoon P, Mahaklan L (2016) Normal hemostatic parameters in children and young adults with α-thalassemia diseases. Thromb Res 146:35–42. https://doi.org/10.1016/j.thromres.2016.08.024
Article PubMed CAS Google Scholar
Haemoglobin (2006) and The genetics of haemoglobin synthesis. Haemoglobinopathy Diagnosis, 1–25
Marengo-Rowe AJ (2007) The thalassemias and related disorders. Baylor Univ Med Cent Proc 20(1):27–31. https://doi.org/10.1080/08998280.2007.11928230
Anthi A, Orfanos SE, Armaganidis A (2013) Pulmonary hypertension in beta thalassaemia. Lancet Respir Med Aug 1(6):488–496. https://doi.org/10.1016/S2213-2600(13)70078-X
Mehta P (2012) Disorders of hemoglobin: genetics, pathophysiology, and clinical management. JAMA 307(12). https://doi.org/10.1001/jama.2012.348
Saunthararajah Y, Atweh GF (2009) Induction of fetal hemoglobin in the treatment of sickle cell disease and β thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Weatherall DJ (eds) Disorders of hemoglobin: genetics, pathophysiology, and clinical management, (2 edn). Cambridge University Press, pp 745–754
Higgs DR, Engel JD, Stamatoyannopoulos G (2012) Thalassaemia. Lancet 28(9813):373–383. https://doi.org/10.1016/S0140-6736(11)60283-3
Rivella S (2015) β-thalassemias: paradigmatic diseases for scientific discoveries and d evelopment of innovative therapies. Haematologica 100(4):418–430. https://doi.org/10.3324/haematol.2014.114827
Article PubMed PubMed Central CAS Google Scholar
Weatherall DJ, Clegg JB (2001) The β Thalassaemias. The thalassaemia syndromes 285–356
Weatherall DJ, Clegg JB (2008) The thalassaemia syndromes, (4th edn)
Weatherall DJ (2010) The inherited diseases of hemoglobin are an emerging global health burden. Blood 115(22):4331–6. https://doi.org/10.1182/blood-2010-01-251348
Article PubMed PubMed Central CAS Google Scholar
Weatherall DJ, Clegg JB (2001) Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 79(8):704–712
PubMed PubMed Central CAS Google Scholar
Weatherall DJ (2008) Hemoglobinopathies worldwide: present and future. Curr Mol Med 8(7):592–599. https://doi.org/10.2174/156652408786241375
Article PubMed CAS Google Scholar
Rund D, Rachmilewitz E (2005) Beta-thalassemia. N Engl J Med Sep 15(11):1135–1146. https://doi.org/10.1056/NEJMra050436
Origa R (2017) beta-Thalassemia. Genet Med Jun 19(6):609–619. https://doi.org/10.1038/gim.2016.173
Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M (2014) IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLoS ONE 9(7):e103020. https://doi.org/10.1371/journal.pone.0103020
Article PubMed PubMed Central CAS Google Scholar
Cao A, Kan YW (2013) The prevention of thalassemia. Cold Spring Harb Perspect Med 1(2):a011775. https://doi.org/10.1101/cshperspect.a011775
Weatherall DJ, Clegg JB (2001) Distribution and population genetics of the thalassaemias. Thalassaemia Syndr: 237–284
Thein SL (2013) The molecular basis of β-Thalassemia. Csh Perspect Med 3(5). https://doi.org/10.1101/cshperspect.a011700
Williams TN, Weatherall DJ (2012) World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb Perspect Med 2(9):a011692. https://doi.org/10.1101/cshperspect.a011692
Article PubMed PubMed Central Google Scholar
Cao A, Galanello R (2010) Beta-thalassemia. Genet Med 12(2):61–76. https://doi.org/10.1097/GIM.0b013e3181cd68ed
Article PubMed CAS Google Scholar
Shah FT, Sayani F, Trompeter S, Drasar E, Piga A (2019) Challenges of blood transfusions in beta-thalassemia. Blood Rev Sep 37:100588. https://doi.org/10.1016/j.blre.2019.100588
Tuo Y, Li Y, Li Y et al (2024) Global, regional, and national burden of thalassemia, 1990–2021: a systematic analysis for the global burden of disease study 2021. EClinicalMedicine 72:102619. https://doi.org/10.1016/j.eclinm.2024.102619
Article PubMed PubMed Central Google Scholar
Asadov C, Alimirzoeva Z, Mammadova T, Aliyeva G, Gafarova S, Mammadov J (2018) beta-Thalassemia intermedia: a comprehensive overview and novel approaches. Int J Hematol Jul 108(1):5–21. https://doi.org/10.1007/s12185-018-2411-9
Taher AT, Musallam KM, Cappellini MD (2021) beta-Thalassemias. N Engl J Med Feb 25(8):727–743. https://doi.org/10.1056/NEJMra2021838
Danjou F, Anni F, Galanello R (2011) Beta-thalassemia: from genotype to phenotype. Haematologica 96(11):1573–1575. https://doi.org/10.3324/haematol.2011.055962
Article PubMed PubMed Central CAS Google Scholar
Zakaria NA, Islam MA, Abdullah WZ et al (2021) Epigenetic insights and potential modifiers as therapeutic targets in 尾鈥揟halassemia
Taher AT, Musallam KM, Cappellini MD, Weatherall DJ (2011) Optimal management of beta thalassaemia intermedia. Br J Haematol Mar 152(5):512–523. https://doi.org/10.1111/j.1365-2141.2010.08486.x
Kwiatkowski DP (2005) How malaria has affected the human genome and what human genetics can teach Us about malaria. Am J Hum Genet 77(2):171–192. https://doi.org/10.1086/432519
Article PubMed PubMed Central CAS Google Scholar
Fairhurst RM, Baruch DI, Brittain NJ et al (2005) Abnormal display of PfEMP-1 on erythrocytes carrying haemoglobin C may protect against malaria. Nature. https://doi.org/10.1038/nature03631
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