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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

Professional guidelines

PubMed

Evaluation of a point-of-care rapid diagnostic test kit (SICKLECHECK) for screening of sickle cell diseases.
Purohit P, Parida C, Martha TK, Bholo S, Naik A, Behera SK
PLoS One 2024;19(8):e0309045. Epub 2024 Aug 16 doi: 10.1371/journal.pone.0309045. PMID: 39150948Free PMC Article
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
A Plea for the Newborn Diagnosis of Hb S-Hereditary Persistence of Fetal Hemoglobin.
Serjeant GR, Serjeant BE, Hambleton IR, Oakley M, Thein SL, Clark B
Hemoglobin 2017 May;41(3):216-217. Epub 2017 Sep 5 doi: 10.1080/03630269.2017.1360336. PMID: 28870138

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hemoglobin F-Only; Hemoglobin F With Decreased A, 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

American College of Medical Genetics ACT SHEET, Sickle Cell Anemia, 2023

ACMG Algorithm, FS: Hemoglobin S Screening Result, 2023

American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009

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
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
Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- 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. Epub 2013 Apr 29 doi: 10.1111/ijlh.12094. PMID: 23621512
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

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
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

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
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
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
The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH).
Aydin M, Rencuzogullari E, Dalyan A, Bayram S, Genc A
Cell Mol Biol (Noisy-le-grand) 2018 Jan 31;64(1):32-39. doi: 10.14715/cmb/2018.64.1.7. PMID: 29412791
Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- 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. Epub 2013 Apr 29 doi: 10.1111/ijlh.12094. PMID: 23621512

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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    • 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

    Consumer resources

    Reviews

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