Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes.
gamma-globin gene
gene deletion
genotype/phenotype
globin gene expression
hereditary persistence of fetal hemoglobin
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
23 Nov 2020
23 Nov 2020
Historique:
received:
03
11
2020
revised:
17
11
2020
accepted:
19
11
2020
entrez:
26
11
2020
pubmed:
27
11
2020
medline:
27
11
2020
Statut:
epublish
Résumé
Fetal hemoglobin (HbF) usually consists of 4 to 10% of total hemoglobin in adults of African descent with sickle cell anemia. Rarely, their HbF levels reach more than 30%. High HbF levels are sometimes a result of β-globin gene deletions or point mutations in the promoters of the HbF genes. Collectively, the phenotype caused by these mutations is called hereditary persistence of fetal hemoglobin, or HPFH. The pancellularity of HbF associated with these mutations inhibits sickle hemoglobin polymerization in most sickle erythrocytes so that these patients usually have inconsequential hemolysis and few, if any, vasoocclusive complications. Unusually high HbF can also be associated with variants of the major repressors of the
Identifiants
pubmed: 33238542
pii: jcm9113782
doi: 10.3390/jcm9113782
pmc: PMC7700170
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Références
Am J Hematol. 2012 Feb;87(2):217-9
pubmed: 22139998
Transl Res. 2015 Jan;165(1):115-25
pubmed: 24880147
Sci Adv. 2020 Feb 12;6(7):
pubmed: 32917636
Hemoglobin. 2016;40(1):64-5
pubmed: 26372199
Blood. 2015 Oct 15;126(16):1930-9
pubmed: 26320100
Blood. 1988 Dec;72(6):1854-60
pubmed: 2461753
Hemoglobin. 2016 Jun;40(3):215-9
pubmed: 27117574
Br J Ophthalmol. 1983 Nov;67(11):777-8
pubmed: 6196049
Nat Med. 2016 Sep;22(9):987-90
pubmed: 27525524
Blood Cells Mol Dis. 2013 Jun;51(1):22-6
pubmed: 23465615
Br J Haematol. 2018 Jan;180(2):189-200
pubmed: 29143315
Exp Hematol. 2008 Sep;36(9):1057-72
pubmed: 18718415
Proc Natl Acad Sci U S A. 1978 Jun;75(6):2937-40
pubmed: 96444
Blood. 2014 Jan 23;123(4):481-5
pubmed: 24222332
Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):10661-5
pubmed: 27601644
Adv Genet. 2008;61:1-43
pubmed: 18282501
Annu Rev Med. 2019 Jan 27;70:257-271
pubmed: 30355263
Blood. 2009 Oct 29;114(18):3935-7
pubmed: 19696200
Br J Haematol. 1988 May;69(1):89-92
pubmed: 2454649
Pediatr Blood Cancer. 2013 Jul;60(7):E49-51
pubmed: 23281181
Br J Haematol. 2018 Mar;180(5):630-643
pubmed: 29193029
Hemoglobin. 2020 Mar;44(2):78-81
pubmed: 32448003
Ann N Y Acad Sci. 1985;445:188-97
pubmed: 2409871
Blood. 1984 Jan;63(1):64-72
pubmed: 6197115
Annu Rev Genomics Hum Genet. 2018 Aug 31;19:113-147
pubmed: 29641911
Lancet. 2016 Jun 18;387(10037):2554-64
pubmed: 27353686
Cell. 2018 Apr 5;173(2):430-442.e17
pubmed: 29606353
Br J Haematol. 1986 Oct;64(2):253-62
pubmed: 3778823
Br J Haematol. 2012 Jan;156(2):259-64
pubmed: 22017641
J Clin Invest. 1974 Aug;54(2):433-8
pubmed: 4847253
J Clin Invest. 2020 Nov 9;:
pubmed: 32897878
Int J Lab Hematol. 2014 Feb;36(1):13-9
pubmed: 23621512
Hematology. 2019 Dec;24(1):349-352
pubmed: 30777489
Nat Genet. 2018 Apr;50(4):498-503
pubmed: 29610478
Blood Adv. 2018 Feb 13;2(3):235-239
pubmed: 29437638
Mol Cell Biol. 2008 Jul;28(13):4386-93
pubmed: 18443038
Blood. 2012 Oct 11;120(15):2945-53
pubmed: 22904296
Blood. 1963 Mar;21:261-81
pubmed: 14022587
Br J Haematol. 1958 Apr;4(2):138-49
pubmed: 13536251
Blood. 2010 Mar 4;115(9):1815-22
pubmed: 20018918
Blood. 2011 Jul 7;118(1):19-27
pubmed: 21490337
Am J Hematol. 1993 Feb;42(2):186-90
pubmed: 7679879
Blood. 1987 Jun;69(6):1742-6
pubmed: 2437982
Am J Hematol. 2020 May;95(5):E122-E125
pubmed: 32072665
Blood. 1982 Aug;60(2):519-23
pubmed: 6178456
Blood. 2012 Aug 30;120(9):1961-2
pubmed: 22936743
Trends Genet. 2018 Dec;34(12):927-940
pubmed: 30287096