IthaID: 3711


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)YD HGVS Name: NC_000016.10:g.94096_147948del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The novel deletion found in a heterozygous individual with Hb 12.8 g/dL, MCV 0.1 fL, MCH 21.4 pg and HbA2 2.4 %. The deletion, also found in combination with the Hb Constant Spring [IthaID: 418], causing Hb H disease. The compound heterozygote patient presenting mild thalassaemia with Hb 8.5 g/dL, MCV 77 fL, MCH 23 pg, HbA2 2.0 %, Hb CS 1.1 %, HbH 2.3 %, Hb Bart’s 3.2 %. The deletion affects the major regulatory element HS-40.

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: 53.854 kb
Deletion involves: HS40

Other details

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

Publications / Origin

  1. Fan Jiang, Li-Li Xu, Xue-Wei Tang, Dong-Zhi Li, A novel deletion of the major regulatory element flanking the α-globin gene cluster as a cause of α 0 -thalassemia, Int J Lab Hematol ., 43(4), 0, 2021

Microattributions

A/AContributor(s)DateComments
1Jiang, Fan2021-01-14First report.
Created on 2021-01-14 13:52:22, Last reviewed on 2022-01-04 13:21:00 (Show full history)

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