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:

Protein sequence:

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.


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]


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

Sequence Viewer

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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 PubMed
  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 PubMed
  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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2022-10-24 12:38:10 (Show full history)

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