IthaID: 209



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-535 - CD 108 (+23, -310, +28) HGVS Name: HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT]
Hb Name: Hb Jambol Protein Info: β nts 1046 - 1357 deleted AND nts AATATATTTTTAATATACTTTTT inserted between nts 1030 and 1031 of β AND nts CAGGTGCCATCTGTCACCCTTTTCTTTG inserted between nts 1045 and 1358 of β

Context nucleotide sequence:
GCTTTCTTCTTTTAATATACTTTTT [-/AATATATT] TGTTTATCTTATTTCTAATACTTTC (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71590
Size: 310 bp
Located at: β

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Insertion & Deletion
Ethnic Origin: Bulgarian
Inheritance: Dominant
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Efremov GD, Simjanovska L, Plaseska-Karanfilska D, Stanojevic E, Petkov GH, Hb Jambol: a new hyperunstable hemoglobin causing severe hemolytic anemia., Acta haematologica, 117(1), 1-7, 2007 PubMed
  2. Efremov GD, Dominantly Inherited beta-Thalassemia., Hemoglobin , 31(2), 193-207, 2007 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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