IthaID: 3326

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
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: +)

Also known as:

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/A	Contributor(s)	Date	Comments
1	Traeger Synodinos, Jan	2018-03-28	First report.
2	Fylaktou, Eirini	2018-03-28	First report.

Created on 2018-03-31 14:30:03, Last reviewed on 2018-04-02 10:10:23 (Show full history)

A/A	Date	Curator(s)	Comments
1	2018-03-31 14:30:03	The IthaGenes Curation Team	Created
2	2018-04-02 10:10:23	The IthaGenes Curation Team	Reviewed. Context sequence added

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