IthaID: 3572



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 90‐93 (-8bp): (‐AGCTTCGG) HGVS Name: HBA2:c.272_279delAGCTTCGG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTGAGCGACCTGCACGCGCACA [-/AGCTTCGG] GTGGACCCGGTCAACTTCAAG (Strand: +)

Also known as:

Comments: Reported in three members of a Chinese family. Initially found together with the --SEA deletion in a 2-year-old boy presenting with Hb H disease (Hb 87 g/L, MCV 61.1 fL, MCH 16.4 pg, Hb H 14.3%, Hb Bart's 2.4%). The father was homozygous for this deletion. The mother did not carry this deletion but her fetus, a second baby, had compound heterozygous mutations as the proband. Detected by CE and confirmed by gap-PCR and sequencing analysis.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34164
Size: 8 bp
Located at: α2
Specific Location: Exon 2

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

  1. Li Y, Liang L, Tian M, Qin T, Wu X, Detection of Hb H disease caused by a novel mutation and -- deletion using capillary electrophoresis., J. Clin. Lab. Anal., 33(7), e22949, 2019 PubMed
Created on 2020-02-19 17:37:49, Last reviewed on 2020-02-19 17:41:44 (Show full history)

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