IthaID: 3435



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Gγ-Atlanta HPFH HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: Atlanta type of HPFH, Atlanta non-deletional HPFH

Comments: The Atlanta type of HPFH exhibits a heterocellular pattern of HbF distribution. This condition is characterized by a mild elevation of HbF (2-5% in heterozygotes), which is nearly all of the Gγ globin chains. It is associated with a chromosome carrying a Gγ-Gγ-globin gene arrangement with a C>T substitution at position -158 [IthaID: 2127] of both Gγ globin genes. The Gγ-Gγ-globin gene arrangement was initially observed in Black families from the southeastern USA with low Gγ chain production due to absence of the -158 C>T substitution.

External Links

No available links

Location

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

Phenotype

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

Other details

Type of Mutation: Combination
Ethnic Origin: Black
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Huisman TH, Chen SS, Nakatsuji T, Kutlar F, A second family with the Atlanta type of HPFH., Hemoglobin, 9(4), 393-8, 1985 PubMed
  2. 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 2019-06-18 14:42:35, Last reviewed on 2019-06-19 08:51:55 (Show full history)

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