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.

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

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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