IthaID: 3326


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 73 GTG>G-G HGVS Name: HBA1:c.221delT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTGACCAACGCCGTGGCGCACG [T/-] GGACGACATGCCCAACGCGCTGTCCGC (Strand: +)

Comments: The case was referred as a Hb S carrier. Haematology/biochemistry analyses showed red cell indices typical of Hb S heterozygosity, with Hb S 32.2%. Protein stability and oxygen affinity were not tested.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37917
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Greek
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Traeger Synodinos, Jan2018-03-28First report.
2Fylaktou, Eirini2018-03-28First report.
Created on 2018-03-31 14:30:03, Last reviewed on 2018-04-02 10:10:23 (Show full history)

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