IthaID: 611

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 74/75 -GAC [-Asp] HGVS Name: HBA2:c.226_228delGAC
Hb Name: Hb Watts Protein Info: α2 74(EF3) Asp->0 OR α2 75(EF4) Asp->0

Context nucleotide sequence:

Also known as:

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34118
Size: 1 bp
Located at: α2
Specific Location: Exon 2


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(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Mexican, American, Spanish
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Rahbar S, Lee C, Fáirbanks VF, McCormick DJ, Kubik K, Madden BJ, Nozari G, Hb Watts [alpha 74(EF3) or alpha 75(EF4)Asp-->0]: a shortened alpha chain variant due to the deletion of three nucleotides in exon 2 of the alpha 2-globin gene., Hemoglobin, 21(4), 321-30, 1997 PubMed
  2. González Borrachero ML, de la Fuente-Gonzalo F, González FA, Nieto JM, Villegas A, Ropero P, [Delta⁰-thalassemia by insertion of 27 base pairs in δ-globin gene with decreased hemoglobin A₂ levels]., Med Clin (Barc) , 144(7), 312-6, 2015 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-08-10 12:35:28 (Show full history)

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