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.

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]

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

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

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.