IthaID: 390

Names and Sequences

Functionality: Globin gene causative mutation
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.

External Links

No available links


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


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

Other details

Type of Mutation: Duplication
Ethnic Origin: Iranian
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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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 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-08-10 10:07:32 (Show full history)

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