IthaID: 3436



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Yugoslavian non-deletional HPFH HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

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].

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: Yugoslavian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Unknown

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 2019-06-18 14:55:16 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.