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


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: Yugoslavian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
Created on 2019-06-18 14:54:41, Last reviewed on 2020-06-29 16:41:57 (Show full history)

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