IthaID: 3435

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
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 is characterized by a mild elevation of HbF (2-5% in heterozygotes), which is nearly all of the Gγ globin chains (>90%). It is associated with a chromosome carrying a Gγ-Gγ-globin gene arrangement [IthaID: 3596] with a nt T at position -158 [IthaID: 2127] of the two Gγ globin genes. Children carrying the Atlanta type of HPFH chromosome exhibit higher levels of HbF (3-10 years; average 8.8%). Also reported in a compound heterozygous state with HbS, presenting with microcytosis, hypochromia, and elevated HbF (9-15 years; average 5.8%).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available 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: N/A
Size: N/A
Located at:

Other details

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

In silico pathogenicity prediction

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 2020-06-30 11:36:57 (Show full history)

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