IthaID: 3596

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: Gγ duplication HGVS Name: NG_000007.3:g.(41526_42954)_(48036_49186)del

Also known as: -Gγ-Gγ-, HBG2 duplication

Comments: The Gγ-Gγ-globin gene arrangement was first observed in Black families from Southeastern USA. Adults with this globin gene arrangement have low HbF levels (<1%) with heterocellular distribution in red cells and Gγ values only slightly higher than observed for persons with the -Gγ-Aγ- globin gene arrangement. Observed in Black and Sardinian newborns with increased Gγ/(Gγ+Aγ) chain ratios (>80%). The presence of the -158C>T substitution in the two Gγ-globin genes has been associated with elevated HbF in adults, a condition called Atlanta type of HPFH [IthaID: 3435]. HGVS name was created based on the affected probes of the MLPA analysis.

External Links

No available links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 41526
Size: N/A
Located at:

Other details

Type of Mutation: Duplication
Ethnic Origin: Black, Sardinian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Powers PA, Altay C, Huisman TH, Smithies O, Two novel arrangements of the human fetal globin genes: G gamma-G gamma and A gamma-A gamma., Nucleic Acids Res., 12(18), 7023-34, 1984 PubMed
  2. Huisman TH, Chen SS, Nakatsuji T, Kutlar F, A second family with the Atlanta type of HPFH., Hemoglobin, 9(4), 393-8, 1985 PubMed
  3. Manca L, Masala B, Orzalesi M, Huang HJ, Huisman TH, Abnormal gamma-globin gene arrangements in Sardinians., Hemoglobin, 12(0), 741-53, 1988 PubMed
  4. Kutlar A, Kutlar F, Gu LG, Mayson SM, Huisman TH, Fetal hemoglobin in normal adults and beta-thalassemia heterozygotes., Hum. Genet., 85(1), 106-10, 1990 PubMed
  5. Efremov DG, Dimovski AJ, Huisman TH, The -158 (C-->T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin., Blood, 83(11), 3350-5, 1994 PubMed
Created on 2020-06-30 11:28:04, Last reviewed on 2022-10-14 11:36:19 (Show full history)

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