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:

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

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