IthaID: 3596



Names and Sequences

Functionality: Neutral polymorphism
Common Name: Gγ duplication HGVS Name: N/A

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].

External Links

No available links

Location

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

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Other details

Type of Mutation: Duplication
Ethnic Origin: Black, Sardinian
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 2020-06-30 11:39:05 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.