IthaID: 2561

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: ααα(anti-3.7) HGVS Name: NG_000006.1:g.34247_38050dup

Also known as: Triplicated α (anti-3.7)

Comments: Alpha-globin gene triplications are not associated with abnormal haematological parameters but may aggravate the phenotype of patients with beta-thalassaemia. The ααα(anti-3.7) allele is generated by unequal crossover between misaligned homologous sequences (Z boxes) on the α2 and α1 genes during recombination (rightward crossover). A second product generated is the hybrid -α3.7 gene [ithaID=300]. The PCR primers used by Wang et al [PMID: 14500599] place the triplicated allele between positions 173617-173635 (HBA2 3'UTR) and 175508-175528 (HBA1 upstream) (GRCh38.p12), producing an amplicon of around 1.9 kb. The α-triplication can be detected by the SALSA MLPA probemix P140 HBA C1. Two different types are reported with different breakpoints that can be detected by i) 18096-L22520 and 15857-L21812, and ii) 18092-L22516 and 14855-L23604 probe pairs.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Anaemia [HP:0001903]


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Located at: α2, α1

Other details

Type of Mutation: Duplication
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannopoulos G, Kan YW, Triplicated alpha-globin loci in humans., Proc. Natl. Acad. Sci. U.S.A. , 77(1), 518-21, 1980 PubMed
  2. Kanavakis E, Metaxotou-Mavromati A, Kattamis C, Wainscoat JS, Wood WG, The triplicated alpha gene locus and beta thalassaemia., Br. J. Haematol. , 54(2), 201-7, 1983 PubMed
  3. Traeger-Synodinos J, Kanavakis E, Vrettou C, Maragoudaki E, Michael T, Metaxotou-Mavromati A, Kattamis C, The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies., Br. J. Haematol. , 95(3), 467-71, 1996 PubMed
  4. Wang W, Ma ES, Chan AY, Prior J, Erber WN, Chan LC, Chui DH, Chong SS, Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 alpha-globin gene triplications., Clin. Chem., 49(10), 1679-82, 2003 PubMed
  5. Moosavi SF, Amirian A, Zarbakhsh B, Kordafshari A, Mirzahoseini H, Zeinali S, Karimipoor M, The carrier frequency of α-globin gene triplication in an Iranian population with normal or borderline hematological parameters., Hemoglobin, 35(4), 323-30, 2011 PubMed
  6. Farashi S, Bayat N, Faramarzi Garous N, Ashki M, Montajabi Niat M, Vakili S, Imanian H, Zeinali S, Najmabadi H, Azarkeivan A, Interaction of an α-Globin Gene Triplication with β-Globin Gene Mutations in Iranian Patients with β-Thalassemia Intermedia., Hemoglobin, 39(3), 201-6, 2015 PubMed
Created on 2015-12-01 16:36:29, Last reviewed on 2022-05-18 09:44:38 (Show full history)

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