Hemoglobin. 2005;29(2):151-4.

Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.

Source

IMD Institute for Medical and Molecular Diagnostics Ltd., Zurich, Switzerland. hannes@imdlab.ch

Abstract

Two new delta-globin gene mutations have been detected: one leads to a fairly stable Hb A2 variant differing electrophoretically only minimally from normal Hb A2, and the second causes a delta(+)-thalassemia (thal) phenotype.

PMID:: 15921167; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Mutational spectrum of delta-globin gene in the Portuguese population. [Eur J Haematol. 2007]
Mutational spectrum of delta-globin gene in the Portuguese population.
Morgado A, Picanço I, Gomes S, Miranda A, Coucelo M, Seuanes F, Seixas MT, Romão L, Faustino P. Eur J Haematol. 2007 Nov; 79(5):422-8. Epub 2007 Oct 4.
Delta-thalassemia in Cyprus. [Hemoglobin. 2006]
Delta-thalassemia in Cyprus.
Pavlou E, Phylactides M, Kyrri A, Kalogerou E, Makariou C, Georgiou I, Kleanthous M. Hemoglobin. 2006; 30(4):455-62.
Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies. [Blood Cells Mol Dis. 2000]
Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.
Traeger-Synodinos J, Papassotiriou I, Metaxotou-Mavrommati A, Vrettou C, Stamoulakatou A, Kanavakis E. Blood Cells Mol Dis. 2000 Aug; 26(4):276-84.
Review alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia. [Haematologica. 2003]
Review alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia.
Garshasbi M, Oberkanins C, Law HY, Neishabury M, Kariminejad R, Najmabadi H. Haematologica. 2003 Oct; 88(10):1196-7.
Review Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. [Hemoglobin. 2008]
Review Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.
Wajcman H, Traeger-Synodinos J, Papassotiriou I, Giordano PC, Harteveld CL, Baudin-Creuza V, Old J. Hemoglobin. 2008; 32(4):327-49.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.

Recent activity

Clear Turn Off Turn On

Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(...
Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.
Hemoglobin. 2005 ;29(2):151-4.

PubMed
Cloning and characterization of the cDNA encoding human adenylosuccinate synthet...
Cloning and characterization of the cDNA encoding human adenylosuccinate synthetase.
FEBS Lett. 1992 May 25 ;303(1):4-10.

PubMed
Use of health technology assessment in decision making: coresponsibility of user...
Use of health technology assessment in decision making: coresponsibility of users and producers?
Int J Technol Assess Health Care. 2005 Spring ;21(2):268-75.

PubMed
The coevolutionary dynamics of obligate ant social parasite systems--between pru...
The coevolutionary dynamics of obligate ant social parasite systems--between prudence and antagonism.
Biol Rev Camb Philos Soc. 2005 May ;80(2):251-67.

PubMed
Why repetitive DNA is essential to genome function.
Why repetitive DNA is essential to genome function.
Biol Rev Camb Philos Soc. 2005 May ;80(2):227-50.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information