IthaID: 156



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 47/48 (+ATCT) HGVS Name: HBB:c.143_146dupATCT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGTTCTTTGAGTCCTTTGGGGATCT [-/ATCT] GTCCACTCCTGATGCTGTTATGGGC (Strand: -)

Also known as:

Comments: Found in one Punjabi Indian patient [PMID: 8199027]. Found in members of a Sikh family from United Arab Emirates. The proband was compound heterozygote for this deletion and a β0 allele (HBB:c.174_175insC), whereas his father and sisten had beta-thalassaemia trait [PMID: 7558874].

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70867
Size: 4 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

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

Sequence Viewer

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Frequencies

Publications / Origin

  1. Garewal G, Fearon CW, Warren TC, Marwaha N, Marwaha RK, Mahadik C, Kazazian HH, The molecular basis of beta thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated alpha-globin loci., British journal of haematology, 86(2), 372-6, 1994 PubMed
  2. el-Kalla S, Mathews AR, A novel frameshift mutation causing beta-thalassemia in a Sikh., Hemoglobin, 19(3), 183-9, 1995 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-12 12:50:29 (Show full history)

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