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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

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

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
  2. Huisman TH, Chen SS, Nakatsuji T, Kutlar F, A second family with the Atlanta type of HPFH., Hemoglobin, 9(4), 393-8, 1985
  3. Manca L, Masala B, Orzalesi M, Huang HJ, Huisman TH, Abnormal gamma-globin gene arrangements in Sardinians., Hemoglobin, 12(0), 741-53, 1988
  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
  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
Created on 2020-06-30 11:28:04, Last reviewed on 2022-10-14 11:36:19 (Show full history)

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