IthaID: 302

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α2.4 HGVS Name: NG_000006.1:g.36859_39252del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The 2.4 kb deletion removes the entire HBA1 and leaves the HBA2 intact. It was first found in compound heterozygosity with –SEA (IthaID: 309), leading to moderate Hb H disease, with Hb ranging from 7 to 9 g/dL.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 36859
Size: 2.392 kb
Deletion involves: α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Zhao JB, Zhao L, Fei YJ, Liu JC, Huisman TH, A novel alpha-thalassemia-2 (-2.7-kb) observed in a Chinese patient with Hb H disease., American journal of hematology, 38(3), 248-9, 1991 PubMed
  2. Eng B, Walsh R, Walker L, Patterson M, Waye JS, Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease., Hemoglobin, 29(4), 297-9, 2005 PubMed
  3. Lin M, Wu JR, Huang Y, Lin F, Zhan XF, Lin CP, Tong X, Luo ZY, Yang HT, Yang LY, Wang Q, Zheng L, Zhong TY, Clinical and molecular characterization of a rare 2.4 kb deletion causing α(+) thalassemia in a Chinese family., Blood Cells Mol Dis, 49(2), 83-4, 2012 PubMed
  4. So CC, Chan AY, Ma ES, Novel Point Mutation of the α2-Globin Gene (HBA2) and a Rare 2.4 kb Deletion of the α1-Globin Gene (HBA1), Identified in Two Chinese Patients with Hb H Disease., Hemoglobin , 38(3), 213-5, 2014 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2024-03-06 09:27:45 (Show full history)

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