IthaID: 3408

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --60.2 HGVS Name: NC_000016.10:g.147589_207883del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 60.2 kb on the α-globin gene cluster. The 5' breakpoint is located upstream of the HBZ gene and the 3' breakpoint is within the LUC7L gene. The deletion removes the entire HBZ, HBM, HBA2, HBA1, and HBQ genes. The deletion is the result of Alu-mediated homologous recombination. The proband was heterozygous for the deletion (Hb:123 g/L, MCV: 73.1 fL, MCH: 21.9 pg, HbF: 0.2%, and HbA2: 2.6%). The 60.2 kb deletion found in compound heterozygosity with -α3.7 [IthaID: 300] in her son, leading to Hb H disease without the requirement for blood transfusions.

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: 8452
Size: 60.294 kb
Deletion involves: ζ, α2, α1, HBM

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Li Z, Shang X, Luo S, Zhu F, Wei X, Zhou W, Ye Y, Yan T, Cai R, Xu X, Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α-thalassemia by targeted next-generation sequencing., Mol. Genet. Genomics, 295(2), 505-514, 2020 PubMed


1Li, Li Zhiming2019-04-14First report.
Created on 2019-04-15 11:48:08, Last reviewed on 2021-03-19 11:43:55 (Show full history)

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