IthaID: 288

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Black, British HGVS Name: NG_000007.3:g.70060_71452del1393
Hb Name: N/A Protein Info: N/A

Also known as: 1393 bp deletion

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70060
Size: 1.393 kb
Deletion involves: β

Other details

Type of Mutation: Deletion
Ethnic Origin: African-American, British
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Padanilam BJ, Felice AE, Huisman TH, Partial deletion of the 5' beta-globin gene region causes beta zero-thalassemia in members of an American black family., Blood, 64(4), 941-4, 1984 PubMed
  2. Anand R, Boehm CD, Kazazian HH, Vanin EF, Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion., Blood, 72(2), 636-41, 1988 PubMed
  3. Gonzalez-Redondo JM, Kattamis C, Huisman TH, Characterization of three types of beta zero-thalassemia resulting from a partial deletion of the beta-globin gene., Hemoglobin, 13(4), 377-92, 1989 PubMed
  4. Thein SL, Hesketh C, Brown JM, Anstey AV, Weatherall DJ, Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA., Blood, 73(4), 924-30, 1989 PubMed
  5. Waye JS, Chui DH, Eng B, Cai SP, Coleman MB, Adams JG, Steinberg MH, Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype., American journal of hematology, 38(2), 108-12, 1991 PubMed
  6. Wang X, Xu JZ, Conrey A, Mendelsohn L, Shriner D, Pirooznia M, Thein SL, Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp deletion., J. Med. Genet., 2020 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-07-02 14:42:07 (Show full history)

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