IthaID: 3436
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Yugoslavian non-deletional HPFH | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: This condition is characterized by a mild elevation of HbF (~5% in heterozygotes), which is nearly all of the Gγ globin chains. It is associated with a chromosome carrying a Gγ-Gγ-Aγ-globin gene arrangement, in which each of the Gγ genes carries a C>T substitution at position -158 [IthaID: 2127].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | Aγ, Gγ |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | Yugoslavian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Efremov GD, Filipce V, Gjorgovski I, Juricic D, Stojanovski N, Harano T, Nakatsuji T, Kutlar A, Kutlar F, Bakioglu I, G gamma A gamma(delta beta)zero-thalassaemia and a new form of gamma globin gene triplication identified in the Yugoslavian population., Br. J. Haematol., 63(1), 17-28, 1986
Created on 2019-06-18 14:54:41,
Last reviewed on 2020-06-29 16:41:57 (Show full history)
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