IthaID: 152


Names and Sequences

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

Context nucleotide sequence:
TTGGACCCAGAGGTTCTTTGAGTCCTT [-/T] GGGGATCTGTCCACTCCTGATGC (Strand: -)

Also known as:

Comments: Found in two members of a Pakistani family presenting with heterozygous beta-thal trait. Found in two unrelated Pakistani individuals having children with transfusion-dependent thalassaemia. The loss of nt T in codon 45 results in a frameshift with a stop codon at codon 60 (TGA) terminating translation.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
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 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Pakistani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Frequencies

Publications / Origin

  1. el-Kalla S, Mathews AR, A novel beta-thalassemia mutation [codon 45(-T)] in a Pakistani family., Hemoglobin , 21(6), 499-503, 1997
  2. Hussain A, Ahmed S, Ali N, S Mailk H, Anees M, Chuahdry AH, Ahmed P, Rare β-Globin Gene Mutations in Pakistan., Hemoglobin , 41(2), 100-103, 2017
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-11 16:03:39 (Show full history)

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