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hereditary persistence of fetal hemoglobin相关文献:
β-Thalassemias.
Taher AT, Musallam KM, Cappellini MD.
N Engl J Med. 2021 Feb 25;384(8):727-743. doi: 10.1056/NEJMra2021838.
PMID:33626255
Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch.
Liu N, Hargreaves VV, Zhu Q, Kurland JV, Hong J, Kim W, Sher F, Macias-Trevino C, Rogers JM, Kurita R, Nakamura Y, Yuan GC, Bauer DE, Xu J, Bulyk ML, Orkin SH.
Cell. 2018 Apr 5;173(2):430-442.e17. doi: 10.1016/j.cell.2018.03.016. Epub 2018 Mar 29.
PMID:29606353
Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known gamma- gene mutations associated with hereditary persistence of fetal hemoglobin.
Amato A, Cappabianca MP, Perri M, Zaghis I, Grisanti P, Ponzini D, Di Biagio P.
Int J Lab Hematol. 2014 Feb;36(1):13-9. doi: 10.1111/ijlh.12094. Epub 2013 Apr 29.
PMID:23621512
Base-editing-mediated dissection of a gamma-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.
Antoniou P, Hardouin G, Martinucci P, Frati G, Felix T, Chalumeau A, Fontana L, Martin J, Masson C, Brusson M, Maule G, Rosello M, Giovannangeli C, Abramowski V, de Villartay JP, Concordet JP, Del Bene F, El Nemer W, Amendola M, Cavazzana M, Cereseto A, Romano O, Miccio A.
Nat Commun. 2022 Nov 4;13(1):6618. doi: 10.1038/s41467-022-34493-1.
PMID:36333351
Beta-thalassemia.
Rund D, Rachmilewitz E.
N Engl J Med. 2005 Sep 15;353(11):1135-46. doi: 10.1056/NEJMra050436.
PMID:16162884
Compound heterozygosity for Southeast Asian hereditary persistence of fetal hemoglobin and beta0-thalassemia results in thalassemia intermedia: Pedigree analysis and genetic research in a family from South China. A case report.
Wang G, Deng H, Peng P, Zheng H, Tian B, Zhu C.
Medicine (Baltimore). 2024 Mar 8;103(10):e37446. doi: 10.1097/MD.0000000000037446.
PMID:38457547
Molecular Characterization of deltabeta Thalassemia/Hereditary Persistence of Fetal Hemoglobin and Its Correlation With Clinical and Hematological Profile; a Single Center Study in North India.
Gupta R, Shah A, Gupta K, Chandra D, Sharma A, Rahman K, Singh MK, Yadav S, Kashyap R.
Int J Lab Hematol. 2025 Apr;47(2):318-325. doi: 10.1111/ijlh.14419. Epub 2024 Dec 27.
PMID:39731309
Genotypic-phenotypic heterogeneity of deltabeta-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India.
Hariharan P, Kishnani P, Sawant P, Gorivale M, Mehta P, Kargutkar N, Colah R, Nadkarni A.
Ann Hematol. 2020 Jul;99(7):1475-1483. doi: 10.1007/s00277-020-04081-8. Epub 2020 Jun 10.
PMID:32524201
Molecular epidemiology and hematologic characterization of deltabeta-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China.
Jiang F, Zuo L, Li D, Li J, Tang X, Chen G, Zhou J, Lu H, Liao C.
BMC Med Genet. 2020 Feb 28;21(1):43. doi: 10.1186/s12881-020-0981-x.
PMID:32111191
Thalassemia.
Aydinok Y.
Hematology. 2012 Apr;17 Suppl 1:S28-31. doi: 10.1179/102453312X13336169155295.
PMID:22507773
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