IthaID: 390


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 93-99 (+21 bp) HGVS Name: HBA1:c.280_300ins21
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in an Iranian family both as a heterozygote (father) and compound heterozygote with -α3.7 deletion (proband and his sister). The proband was investigated for chronic hypochromic microcytic anaemia. No abnormal haemoglobin molecules were detected, hence unstable variant.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α+/α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37976
Size: 21 bp
Located at: α1
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Waye JS, Eng B, Patterson M, Carcao MD, Chang L, Olivieri NF, Chui DH, Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene., Hemoglobin, 25(4), 391-6, 2001
Created on 2010-06-16 16:13:15, Last reviewed on 2021-09-08 15:39:53 (Show full history)

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