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.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| 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
Publications / Origin
- 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
- 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
- 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
- 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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-07-02 14:42:07 (Show full history)
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