IthaID: 416

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 131 (+T) >175aa HGVS Name: HBA1:c.396dup
Hb Name: Hb Pak Num Po Protein Info: α1 131(+T); modified C-terminal sequence: (132)Cys-Glu-His-Arg-Ala-Asp-Leu-Gln- Ile-Pro-Leu-Ser-Trp-Ser-Leu-Gly-Gly-His- Ala-Ser-Cys-Pro-Leu-Gly-Leu-Pro-Pro-Ala- Pro-Pro-Pro-Leu-Pro-Ala-Pro-Val-Pro-Pro- Trp-Ser-Leu-Asn-Lys-(175)Val-COOH

Context nucleotide sequence:

Also known as:

Comments: Found in compound heterozygosity with the –SEA deletion [IthaID:309] leading to Hb H disease. Also, patient with Hb Pak Num Po and the deletional mutation -α4.2 [IthaID:301] presented with mild hypochromic microcytic anemia and required no blood transfusions.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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: 38241
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Viprakasit V, Tanphaichitr VS, Veerakul G, Chinchang W, Petrarat S, Pung-Amritt P, Higgs DR, Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease., American journal of hematology, 75(3), 157-63, 2004 PubMed
  2. Sanpakit K, Viprakasit V, Variable genotype-phenotype correlations in patients with a rare nondeletional α-thalassemia; Hb Pak Num Po (HBA1: c.396_397insT)., J Pediatr Hematol Oncol, 36(3), e185-9, 2014 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2022-02-28 09:18:20 (Show full history)

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