IthaID: 353



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 22 -C HGVS Name: HBA2:c.69delC
Hb Name: N/A Protein Info: N/A

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33844
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Portuguese, African
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Pereira FJ, do Céu Silva M, Picanço I, Seixas MT, Ferrão A, Faustino P, Romão L, Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22., British journal of haematology, 133(1), 98-102, 2006 PubMed
  2. Luo HY, Adewoye AH, Pilichowska M, Li MY, Basran RK, Steinberg MH, Chui DH, Two new alpha-thalassemia frameshift mutations., Hemoglobin, 31(2), 135-9, 2007 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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