IthaID: 2244

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)JM HGVS Name: NC_000016.10:48642_132584del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans 83.9 kb upstream of the α-globin gene locus, extending from POLR3K gene down to NPRL3 gene, including the HS-48, HS-40 and HS-33 α-globin regulatory elements. The precise breakpoints were determined through long-read sequencing. Gap-PCR and Sanger sequencing confirmed the breakpoint. Heterozygosity occurs with α-thalassemia trait, while co-inheritance with α0-thalassemia occurs with Hb Bart's hydrops fetalis.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 83.943 kb
Deletion involves: HS40, ζ, NPRL3

Other details

Type of Mutation: Deletion
Ethnic Origin: South European | Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DH, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR, Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects., Eur. J. Hum. Genet. , 9(3), 217-25, 2001 PubMed
  2. Feng J, Mao A, Lu Y, Shi H, Meng W, Liang C, Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing., Blood Cells Mol Dis, 2023 PubMed
Created on 2013-10-03 16:34:09, Last reviewed on 2023-08-04 12:01:35 (Show full history)

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