IthaID: 400

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	-α3.7;CD 109 CTG>CGG	HGVS Name:	N/A
Hb Name:	Hb Suan Dok	Protein Info:	N/A
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: Hb Suan-Dok [α109(G16) Leu>Arg] was found in HBA2 on a chromosome that carries the -3.7 kb deletion (-α3.7). Depending on its position on HBA2 (g.34363) and relative to the crossover region, -α3.7 type II [IthaID: 2230] or type III [IthaID: 2231] could exist or any of the various sub-types with different breakpoints [SALSA MLPA Probemix P140 HBA]. Reported as an α0-thalassaemia allele.

External Links

HbVar	dbSNP
OMIM	SwissVar
ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-thalassaemia, α-chain variant
Allele Phenotype:	α0
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	1 bp
Located at:	α2, α3.7 hybrid

Other details

Type of Mutation:	Combination
Ethnic Origin:	Spanish
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Moradkhani K, Mazurier E, Giordano PC, Wajcman H, Préhu C, An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene., Hemoglobin, 32(4), 419-24, 2008

Created on 2010-06-16 16:13:15, Last reviewed on 2024-03-08 11:33:19 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2020-10-02 10:36:41	The IthaGenes Curation Team	Reviewed. Comment added. DNA info edited.
4	2020-10-02 10:37:02	The IthaGenes Curation Team	Reviewed.
5	2020-10-02 10:37:39	The IthaGenes Curation Team	Reviewed.
6	2021-11-04 11:33:57	The IthaGenes Curation Team	Reviewed. Common name corrected. HGVS name deleted. Origin added.
7	2024-03-08 11:33:19	The IthaGenes Curation Team	Reviewed. Comment added, Variant type and Genes edited

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.