IthaID: 3868


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: >35.3 Kb deletion HGVS Name: NG_000007.3:g.(21655_27675)_(63032_64586)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in compound heterozygosity with HBB:c.315+1G>A [IthaID:200] in a regular transfusion dependent patient. Patient’s father also has the deletion. He presented with hematological finding consistent with heterozygous β-thalassaemia (RBC 6.52×10^12/L, Hb 13.7 g/dL, MCV 64.5 fL, MCH 21 pg, RDW 15.1 %, HbA2 2.3% and HbF 0.3%). MLPA analysis shown that the >35.3 Kb deletion includes HBBP1, HBG1, HBG2, HBE and part of HBD.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 27675
Size: 35.3 kb
Deletion involves: ε, , , δ, pseudo β

Other details

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

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Traeger Synodinos, Jan2021-10-01First report.
2Vrettou, Christina2021-10-01First report.
Created on 2021-10-05 11:14:36, Last reviewed on (Show full history)

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