IthaID: 3622


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --71.8 (71.8 Kb deletion) HGVS Name: NC_000016.10:g.138971_210817del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in a 6-months infant boy and his father presented with homogeneous microcytic hypochromic anemia and decrease MCV, MVH and HbA2 level. The proband characterized by neonatal high Hb Bart’s (γ4) level (3.8%). The 72 Kb deletion removed both α-globin genes and also the HBZ, HBQ and part of the LUC7L genes.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 72.846 kb
Deletion involves: ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Xu ML, Qin JC, Chen BY, Yang XX, Liu HP, Yuan WX, Zhong JM, Huang LM, Zhou WJ, Characterization of a Novel 71.8 kb α-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis., Hemoglobin, 2020
Created on 2020-09-08 11:00:01, Last reviewed on 2020-09-08 11:00:38 (Show full history)

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