IthaID: 3441



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 59 AAG>A-G HGVS Name: HBD:c.179delA
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCTGATGCTGTTATGGGCAACCCTA [A/-] GGTGAAGGCTCATGGCAAGAAGGTG (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPRX

Also known as: δ0 59 (-A)

Comments: The mutation results in a frameshift leading to a premature signal in amino acid 60. Found in homozygous state presenting hypochromic microcytic red cells and complete absence of HbA2. The patient also was homozygous for the Hb Knossos [IthaID:91], which was in cis with the δ0 59 (-A) mutation. Also reported in a patient with Hb Knossos/codon 5 [−CT] and β-thalassaemia intermedia.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63489
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:δ0
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Syrian, Egyptian, Tunisian, Libyan
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Olds RJ, Sura T, Jackson B, Wonke B, Hoffbrand AV, Thein SL, A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families., British journal of haematology, 78(3), 430-6, 1991 PubMed
  2. Sahli CA, Bibi A, Ouali F, Siala H, Fredj SH, Othmani R, Ouenniche F, Cheour M, Fitouri Z, Becher SB, Messaoud T, δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients., Clin. Chem. Lab. Med., 50(10), 1743-8, 2012 PubMed
  3. Moassas F, Nweder MS, Murad H, Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia., BMC Pediatr, 19(1), 61, 2019 PubMed
Created on 2019-07-29 14:43:11, Last reviewed on 2020-07-21 11:00:03 (Show full history)

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