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.


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]


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

Sequence Viewer

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Publications / Origin

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

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