IthaID: 2539



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 94 (+21 bp duplication) HGVS Name: HBA1:c.283_300+3dup
Hb Name: Hb SKMC Protein Info: α1 nt 437 - α1 nt 457 inserted between nts 454 and 455 of α1

Comments: This duplication causes mild anaemia as a heterozygote, with a more severe phenotype observed at the homozygote state.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37979
Size: 21 bp
Located at: α1
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Iranian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing, MLPA

Sequence Viewer

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Publications / Origin

  1. Waye JS, Eng B, Patterson M, Carcao MD, Chang L, Olivieri NF, Chui DH, Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene., Hemoglobin, 25(4), 391-6, 2001 PubMed
  2. Farashi S, Faramarzi Garous N, Zeinali F, Vakili S, Ashki M, Imanian H, Najmabadi H, Azarkeivan A, Tamaddoni A, A 21 Nucleotide Duplication on the α1- and α2-Globin Genes Involves a Variety of Hypochromic Microcytic Anemias, From Mild to Hb H Disease., Hemoglobin , 39(3), 196-200, 2015 PubMed
Created on 2015-01-08 16:05:41, Last reviewed on 2016-09-09 13:26:29 (Show full history)

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