IthaID: 1573

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -117 G>A HGVS Name: HBG1:c.-170G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as: Greek/Italian/Black non-deletional HPFH

Comments: HPFH mutation, 7-33% of HbF in individuals carrying beta-thalassaemia mutations. Possibly disrupts binding site (TGACCA) of BCL11A transcriptional repressor.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 47642
Size: 1 bp
Located at:
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Greek, Italian, African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Collins FS, Metherall JE, Yamakawa M, Pan J, Weissman SM, Forget BG, A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin., Nature, 313(6000), 325-6, 1985 PubMed
  2. Gelinas R, Endlich B, Pfeiffer C, Yagi M, Stamatoyannopoulos G, G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin., Nature, 313(6000), 323-5, 1985 PubMed
  3. Huang HJ, Stoming TA, Harris HF, Kutlar F, Huisman TH, The Greek A gamma beta+-HPFH observed in a large black family., American journal of hematology, 25(4), 401-8, 1987 PubMed
  4. Ottolenghi S, Camaschella C, Comi P, Giglioni B, Longinotti M, Oggiano L, Dore F, Sciarratta G, Ivaldi G, Saglio G, A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia., Human genetics, 79(1), 13-7, 1988 PubMed
  5. Weber L, Frati G, Felix T, Hardouin G, Casini A, Wollenschlaeger C, Meneghini V, Masson C, De Cian A, Chalumeau A, Mavilio F, Amendola M, Andre-Schmutz I, Cereseto A, El Nemer W, Concordet JP, Giovannangeli C, Cavazzana M, Miccio A, Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype., Sci Adv . , 6(7), 0, 2020 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2020-10-08 13:51:56 (Show full history)

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