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Hereditary persistence of fetal hemoglobin

MedGen UID:
5495
Concept ID:
C0019025
Disease or Syndrome
Synonyms: Disease, Hemoglobin F; Hemoglobin F Disease
SNOMED CT: Hb F disease (191201002); HPFH - Hereditary persistence of fetal hemoglobin (191201002); Hereditary persistence of fetal hemoglobin (191201002)
 
Genes (locations): HBB (11p15.4); HBG1 (11p15.4); HBG2 (11p15.4)
 
Monarch Initiative: MONDO:0020989
OMIM®: 141749

Definition

The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. [from NCI]

Clinical features

From HPO
Persistence of hemoglobin F
MedGen UID:
68693
Concept ID:
C0239941
Finding
Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary persistence of fetal hemoglobin

Professional guidelines

Recent clinical studies

Etiology

Rizo-de la Torre LDC, Rentería-López VM, Sánchez-López JY, Magaña-Torres MT, Ibarra-Cortés B, Perea-Díaz FJ
Genet Test Mol Biomarkers 2021 Mar;25(3):247-252. doi: 10.1089/gtmb.2020.0276. PMID: 33734896
Yu L, Myers G, Engel JD
Curr Opin Hematol 2020 May;27(3):129-140. doi: 10.1097/MOH.0000000000000579. PMID: 32167945Free PMC Article
Forget BG
Ann N Y Acad Sci 1998 Jun 30;850:38-44. doi: 10.1111/j.1749-6632.1998.tb10460.x. PMID: 9668525
Serjeant GR
Curr Opin Hematol 1995 Mar;2(2):103-8. doi: 10.1097/00062752-199502020-00001. PMID: 9371979
Bollekens JA, Forget BG
Hematol Oncol Clin North Am 1991 Jun;5(3):399-422. PMID: 1713909

Diagnosis

Oliveira JL, Thompson CH, Saravanaperumal SA, Koganti T, Jenkinson G, Hein MS, Kohorst MA, Hasadsri L, Nguyen PL, Matern D, Kipp BR, Klee EW, Wieben ED, Hoyer JD, Rangan A
Clin Chem 2023 Jul 5;69(7):711-717. doi: 10.1093/clinchem/hvad038. PMID: 37086467
Ghaderi A, Bakhtiari T, Jokar S, Eshraghi A
Iran J Allergy Asthma Immunol 2022 Jun 18;21(3):364-368. doi: 10.18502/ijaai.v21i3.9810. PMID: 35822686
Heshusius S, Grech L, Gillemans N, Brouwer RWW, den Dekker XT, van IJcken WFJ, Nota B, Felice AE, van Dijk TB, von Lindern M, Borg J, van den Akker E, Philipsen S
Sci Rep 2022 Jan 10;12(1):336. doi: 10.1038/s41598-021-04126-6. PMID: 35013432Free PMC Article
Zhang J, Yang Y, Li P, Yan Y, Lv T, Zhao T, Zeng X, Li D, Zhou X, Chen H, Su J, Yang T, He J, Zhu B
Mol Genet Genomic Med 2019 Jun;7(6):e706. Epub 2019 May 1 doi: 10.1002/mgg3.706. PMID: 31044540Free PMC Article
Orkin SH, Bauer DE
Annu Rev Med 2019 Jan 27;70:257-271. Epub 2018 Oct 24 doi: 10.1146/annurev-med-041817-125507. PMID: 30355263

Therapy

Steinberg MH
Expert Opin Ther Targets 2022 Apr;26(4):347-359. Epub 2022 Apr 26 doi: 10.1080/14728222.2022.2066519. PMID: 35418266
Demirci S, Leonard A, Tisdale JF
Hum Mol Genet 2020 Sep 30;29(R1):R100-R106. doi: 10.1093/hmg/ddaa088. PMID: 32406490Free PMC Article
Yu L, Myers G, Engel JD
Curr Opin Hematol 2020 May;27(3):129-140. doi: 10.1097/MOH.0000000000000579. PMID: 32167945Free PMC Article
Hamed EM, Meabed MH, Aly UF, Hussein RRS
Curr Drug Targets 2019;20(16):1603-1623. doi: 10.2174/1389450120666190726155733. PMID: 31362654
Wienert B, Martyn GE, Funnell APW, Quinlan KGR, Crossley M
Trends Genet 2018 Dec;34(12):927-940. Epub 2018 Oct 1 doi: 10.1016/j.tig.2018.09.004. PMID: 30287096

Prognosis

Li C, Georgakopoulou A, Newby GA, Everette KA, Nizamis E, Paschoudi K, Vlachaki E, Gil S, Anderson AK, Koob T, Huang L, Wang H, Kiem HP, Liu DR, Yannaki E, Lieber A
JCI Insight 2022 Oct 10;7(19) doi: 10.1172/jci.insight.162939. PMID: 36006707Free PMC Article
Hariharan P, Kishnani P, Sawant P, Gorivale M, Mehta P, Kargutkar N, Colah R, Nadkarni A
Ann Hematol 2020 Jul;99(7):1475-1483. Epub 2020 Jun 10 doi: 10.1007/s00277-020-04081-8. PMID: 32524201
Zhang J, Yang Y, Li P, Yan Y, Lv T, Zhao T, Zeng X, Li D, Zhou X, Chen H, Su J, Yang T, He J, Zhu B
Mol Genet Genomic Med 2019 Jun;7(6):e706. Epub 2019 May 1 doi: 10.1002/mgg3.706. PMID: 31044540Free PMC Article
Forget BG
Ann N Y Acad Sci 1998 Jun 30;850:38-44. doi: 10.1111/j.1749-6632.1998.tb10460.x. PMID: 9668525
Serjeant GR
Curr Opin Hematol 1995 Mar;2(2):103-8. doi: 10.1097/00062752-199502020-00001. PMID: 9371979

Clinical prediction guides

Li C, Georgakopoulou A, Newby GA, Everette KA, Nizamis E, Paschoudi K, Vlachaki E, Gil S, Anderson AK, Koob T, Huang L, Wang H, Kiem HP, Liu DR, Yannaki E, Lieber A
JCI Insight 2022 Oct 10;7(19) doi: 10.1172/jci.insight.162939. PMID: 36006707Free PMC Article
Heshusius S, Grech L, Gillemans N, Brouwer RWW, den Dekker XT, van IJcken WFJ, Nota B, Felice AE, van Dijk TB, von Lindern M, Borg J, van den Akker E, Philipsen S
Sci Rep 2022 Jan 10;12(1):336. doi: 10.1038/s41598-021-04126-6. PMID: 35013432Free PMC Article
Rizo-de la Torre LDC, Rentería-López VM, Sánchez-López JY, Magaña-Torres MT, Ibarra-Cortés B, Perea-Díaz FJ
Genet Test Mol Biomarkers 2021 Mar;25(3):247-252. doi: 10.1089/gtmb.2020.0276. PMID: 33734896
Korporaal A, Gillemans N, Heshusius S, Cantú I, van den Akker E, van Dijk TB, von Lindern M, Philipsen S
Haematologica 2021 Feb 1;106(2):464-473. doi: 10.3324/haematol.2019.239830. PMID: 32467144Free PMC Article
Zhang J, Yang Y, Li P, Yan Y, Lv T, Zhao T, Zeng X, Li D, Zhou X, Chen H, Su J, Yang T, He J, Zhu B
Mol Genet Genomic Med 2019 Jun;7(6):e706. Epub 2019 May 1 doi: 10.1002/mgg3.706. PMID: 31044540Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2023
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hemoglobin F-Only; Hemoglobin F With Decreased A, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, Hemoglobin F Only or F with Decreased A: Transfusion Dependent or Non Transfusion Dependent beta-Thalassemia; Hb beta 0 Thalassemia; Hb beta+/beta+ Thalassemia; Hb beta0/beta+ Thalassemia Screening Result, 2023
    • ACMG ACT Sheet, 2023
      American College of Medical Genetics ACT SHEET, Sickle Cell Anemia, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, FS: Hemoglobin S Screening Result, 2023
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009

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