IthaID: 3407



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: (αα)JS HGVS Name: NC_000016.9:g.96621_176318del
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans approximately 80 kb of DNA, extending from the POLR3K gene to the downstream region of the NPRL3 gene. The deletion removes the POLR3K, SNRNP25, RHBDF1, MPG and NPRL3 genes, as well as the MCS-R1, -R2 and -R3 elements upstream of the α-globin gene cluster. The α-globin genes remain intact. The deletion is the result of Alu-mediated homologous recombination. The proband is heterozygous for the deletion with haematological characteristics similar to those manifested with the --SEA deletion (Hb: 109 g/L, MCV: 66 fL, MCH: 20.3 pg, HbF: 0.3%, and HbA2: 2.7%).

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 79.696 kb
Deletion involves: HS40, NPRL3

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Li, Li Zhiming2019-04-14First report.
Created on 2019-04-15 11:42:44, Last reviewed on 2019-04-15 11:44:43 (Show full history)

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