IthaID: 3636



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 104 (-A) HGVS Name: HBB:c.313delA
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGCACGTGGATCCTGAGAACTTC [A/-] GGGTGAGTCTATGGGACGCTTGA (Strand: -)

Also known as:

Comments: Found in a 12-year-old Chinese boy in compound heterozygosity with HBB:c.126_129delCTTT [IthaID:147]. Patient presented severe β-thalassemia with moderate hemolytic anemia (Hb 125 g/dL, MCV 74.7 fL, MCH 21.9 pg, HbA2 5.1 %, HbF 0.7 %). The HBB:c.313delA deletion was also identified in the father.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71037
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

Sequence Viewer

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Publications / Origin

  1. Qiu Y, Huang Y, Chen P, Wei S, Su Q, Zhang Z, Yang Z, Ye L, Huang J, Shen X, Mo W, Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (: c.313delA) and Codons 41/42 (-CTTT) (: c.126_129delCTTT) Leading to β-Thalassemia Major in a Chinese Family., Hemoglobin, 2020 PubMed

Microattributions

A/AContributor(s)DateComments
1Qiu, Yuling2020-09-07First report.
Created on 2020-10-02 09:39:52, Last reviewed on 2020-11-18 14:41:16 (Show full history)

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