IthaID: 154


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 45/46 (+A) HGVS Name: HBB:c.138_139insA
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GACCCAGAGGTTCTTTGAGTCCTTT [-/A] GGGGATCTGTCCACTCCTGATGCTG (Strand: -)

Also known as:

Comments: Found in a heterozygous state in a female of Arabic origin. The insertion of a nt A in codons 45/46 creates a shift in the reading frame with a premature stop codon at codon 52. Not detected by HPLC.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β+
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70862
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Arab
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Cornut G, Weng X, Robin L, Lavoie C, Marchand S, Soulières D, A new insertion mutation in the beta-globin gene [codons 45/46 (+A)] resulting in a beta-thalassemia minor phenotype., Hemoglobin, 31(3), 393-5, 2007
Created on 2010-06-16 16:13:15, Last reviewed on 2020-09-28 13:41:55 (Show full history)

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