IthaID: 1556

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -200 +C HGVS Name: HBG2:c.-253dup
Hb Name: N/A Protein Info: N/A

Also known as: Tunisian non-deletional HPFH

Comments: HPFH mutation, 18–28% of HbF in heterozygous carriers. Disrupts binding site (CCCCTTCCCC) of LRF transcriptional repressor.

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: 42635
Size: 1 bp
Located at:
Specific Location: Promoter

Other details

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

Publications / Origin

  1. Pissard S, M'rad A, Beuzard Y, Roméo PH, A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta + (+C-200)G gamma., British journal of haematology, 95(1), 67-72, 1996
  2. Martyn GE, Wienert B, Yang L, Shah M, Norton LJ, Burdach J, Kurita R, Nakamura Y, Pearson RCM, Funnell APW, Quinlan KGR, Crossley M, Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding., Nat. Genet. , 50(4), 498-503, 2018
  3. 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
Created on 2010-06-16 16:13:17, Last reviewed on 2022-06-30 11:49:51 (Show full history)

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