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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.
See: Feature record | Search on this feature

Term Hierarchy

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

Recent clinical studies

Etiology

Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients.
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
Small molecule therapeutics to treat the β-globinopathies.
Yu L, Myers G, Engel JD
Curr Opin Hematol 2020 May;27(3):129-140. doi: 10.1097/MOH.0000000000000579. PMID: 32167945Free PMC Article
Molecular basis of hereditary persistence of fetal hemoglobin.
Forget BG
Ann N Y Acad Sci 1998 Jun 30;850:38-44. doi: 10.1111/j.1749-6632.1998.tb10460.x. PMID: 9668525
Natural history and determinants of clinical severity of sickle cell disease.
Serjeant GR
Curr Opin Hematol 1995 Mar;2(2):103-8. doi: 10.1097/00062752-199502020-00001. PMID: 9371979
Delta beta thalassemia and hereditary persistence of fetal hemoglobin.
Bollekens JA, Forget BG
Hematol Oncol Clin North Am 1991 Jun;5(3):399-422. PMID: 1713909

Diagnosis

εγ-Thalassemia, a New Hemoglobinopathy Category.
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
The Clinical Approach toward Hereditary Persistence of Fetal Hemoglobin: A Case Report.
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
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
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
Emerging Genetic Therapy for Sickle Cell Disease.
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
The relevance of hemoglobin F measurement in the diagnosis of thalassemias and related hemoglobinopathies.
Mosca A, Paleari R, Leone D, Ivaldi G
Clin Biochem 2009 Dec;42(18):1797-801. Epub 2009 Jul 4 doi: 10.1016/j.clinbiochem.2009.06.023. PMID: 19580798

Therapy

Targeting fetal hemoglobin expression to treat β hemoglobinopathies.
Steinberg MH
Expert Opin Ther Targets 2022 Apr;26(4):347-359. Epub 2022 Apr 26 doi: 10.1080/14728222.2022.2066519. PMID: 35418266
Genome editing strategies for fetal hemoglobin induction in beta-hemoglobinopathies.
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
Small molecule therapeutics to treat the β-globinopathies.
Yu L, Myers G, Engel JD
Curr Opin Hematol 2020 May;27(3):129-140. doi: 10.1097/MOH.0000000000000579. PMID: 32167945Free PMC Article
Recent Progress in Gene Therapy and Other Targeted Therapeutic Approaches for Beta Thalassemia.
Hamed EM, Meabed MH, Aly UF, Hussein RRS
Curr Drug Targets 2019;20(16):1603-1623. doi: 10.2174/1389450120666190726155733. PMID: 31362654
Wake-up Sleepy Gene: Reactivating Fetal Globin for β-Hemoglobinopathies.
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

In vivo base editing by a single i.v. vector injection for treatment of hemoglobinopathies.
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
Genotypic-phenotypic heterogeneity of δβ-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. Epub 2020 Jun 10 doi: 10.1007/s00277-020-04081-8. PMID: 32524201
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
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
Molecular basis of hereditary persistence of fetal hemoglobin.
Forget BG
Ann N Y Acad Sci 1998 Jun 30;850:38-44. doi: 10.1111/j.1749-6632.1998.tb10460.x. PMID: 9668525
Natural history and determinants of clinical severity of sickle cell disease.
Serjeant GR
Curr Opin Hematol 1995 Mar;2(2):103-8. doi: 10.1097/00062752-199502020-00001. PMID: 9371979

Clinical prediction guides

In vivo base editing by a single i.v. vector injection for treatment of hemoglobinopathies.
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
Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.
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
Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients.
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
Hemoglobin switching in mice carrying the Klf1(Nan) variant.
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
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
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

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      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

    Consumer resources

    Reviews

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