IthaID: 379


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 59 GGC>CGC [Gly>Arg] HGVS Name: HBA2:c.178G>C
Hb Name: Hb Zurich-Albisrieden Protein Info: α2 59(E8) Gly>Arg

Context nucleotide sequence:
CGGCTCTGCCCAGGTTAAGGGCCAC [G>C] GCAAGAAGGTGGCCGACGCGCTGAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHRKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Rare and highly unstable variant. Reported in a heterozygote with persistent hypochromic microcytosis and erythrocytosis. Not detectable in blood; no abnormal Hb fraction by ion exchange and reversed phase chromatography, IEF, ESIMS [PMID: 15658192]. Reported with the – –SEA a0-thal deletion [IthaID: 309] in a fetus with Hb Bart’s hydrops fetalis. The father was heterozygous with α-thal trait [PMID: 27686733]. Reported as a homozygote with severe congenital hemolytic anemia and ineffective erythropoiesis (consanguineous family) [PMID: 30151892]. Reported with α+ Hb Sallanches [IthaID: 396] in a male with persistent microcytosis, hypochromia, and reticulocytosis. Positive instability tests [PMID: 31930682].

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:α⁺
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34070
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Swiss, Chinese, Brazilian, Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Dutly F, Fehr J, Goede JS, Morf M, Troxler H, Frischknecht H, A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)]., Hemoglobin, 28(4), 347-51, 2004
  2. Yang Xin,Yan Jin-Mei,Li Jian,Xie Xing-Mei,Zhou Jian-Ying,Li Yan,Li Dong-Zhi, Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178G > C) and the Southeast Asian (- -SEA/) Deletion., Hemoglobin, 5(5), 353-355, 2017
  3. Pedroso GA, Kimura EM, Santos MNN, Albuquerque DM, Malimpensa D, Jorge SE, Verissimo MPA, Costa FF, Sonati MF, Thalassemia major phenotype caused by HB Zürich-Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child., Pediatr Blood Cancer, 65(12), e27413, 2018
  4. Sharma P, Das R, Khadwal AR, Karmakar I, Hira JK, Chhabra S, HbH disease due to compound heterozygosity for hemoglobins Zürich-Albisrieden and Sallanches., Pediatr Blood Cancer, 67(4), e28161, 2020
Created on 2010-06-16 16:13:15, Last reviewed on 2022-10-24 12:38:10 (Show full history)

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