IthaID: 3752

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -99 to -85 (-15bp) HGVS Name: HBB:c.-149_-135delGTGGAGCCACACCCT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Found in a 30-year old Chinese female presented with mild anaemia, (Hb 10.4 g/dL, RBC 4.10×1012/L) microcytosis (MCV 77.6 fL) and hypochromia (MCH 25.4 pg). Capillary electrophoresis shown normal level of HbA 94.8 %, HbF 0.8 % and HbA2 4.4 %.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70446
Size: 15 bp
Located at: β
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Li, Youqiong2021-02-25First report.
Created on 2021-02-26 08:20:06, Last reviewed on 2021-02-26 08:21:52 (Show full history)

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