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 |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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%).
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | HPFH |
|---|---|
| Hemoglobinopathy Subgroup: | HPFH |
| Allele Phenotype: | HPFH |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | N/A |
| Located at: | Gγ |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | Black |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Huisman TH, Chen SS, Nakatsuji T, Kutlar F, A second family with the Atlanta type of HPFH., Hemoglobin, 9(4), 393-8, 1985
- 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 2019-06-18 14:42:35,
Last reviewed on 2020-06-30 11:36:57 (Show full history)
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