IthaID: 1399
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.63632_71046del |
| Hb Name: | Hb Lepore-Boston-Washington | Protein Info: | δβ hybrid (δ through 87; β from 116) |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63632 |
| Size: | 7.398 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Worldwide |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 585 | Hb Lepore-Boston-Washington | δ | D-10 | Dual Kit Program | 4.8 | 2.69 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 586 | Hb Lepore-Boston-Washington | δ | VARIANT | β-thal Short Program | 10.5 | 3.5 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 587 | Hb Lepore-Boston-Washington | δ | VARIANT II | β-thal Short Program | 11.1 | 3.55 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 588 | Hb Lepore-Boston-Washington | δ | VARIANT II | Dual Kit Program | 13.1 | 2.827 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 593 | Hb Lepore-Boston-Washington | δ | D-10 | Dual Kit Program | 5.3 | 2.69 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 594 | Hb Lepore-Boston-Washington | δ | VARIANT | β-thal Short Program | 9.7 | 3.42 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 595 | Hb Lepore-Boston-Washington | δ | VARIANT II | β-thal Short Program | 10.8 | 3.5 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 596 | Hb Lepore-Boston-Washington | δ | VARIANT II | Dual Kit Program | 10.8 | 2.887 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 585 | Hb Lepore-Boston-Washington | β | D-10 | Dual Kit Program | 4.8 | 2.69 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 586 | Hb Lepore-Boston-Washington | β | VARIANT | β-thal Short Program | 10.5 | 3.5 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 587 | Hb Lepore-Boston-Washington | β | VARIANT II | β-thal Short Program | 11.1 | 3.55 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 588 | Hb Lepore-Boston-Washington | β | VARIANT II | Dual Kit Program | 13.1 | 2.827 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 593 | Hb Lepore-Boston-Washington | β | D-10 | Dual Kit Program | 5.3 | 2.69 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 594 | Hb Lepore-Boston-Washington | β | VARIANT | β-thal Short Program | 9.7 | 3.42 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 595 | Hb Lepore-Boston-Washington | β | VARIANT II | β-thal Short Program | 10.8 | 3.5 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] | |
| 596 | Hb Lepore-Boston-Washington | β | VARIANT II | Dual Kit Program | 10.8 | 2.887 | Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. | [PDF] |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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In such a case, please Refresh the page or retry at a later stage.
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Frequencies
Publications / Origin
- Ribeiro ML, Cunha E, Gonçalves P, Martin Núñez G, Fernandez Galan MA, Tamagnini GP, Smetanina NS, Gu LH, Huisman TH, Hb Lepore-Baltimore (delta 68Leu-beta 84Thr) and Hb Lepore-Washington-Boston (delta 87Gln-beta IVS-II-8) in central Portugal and Spanish Alta Extremadura., Human genetics, 99(5), 669-73, 1997 PubMed
- Cai WJ, Li J, Xie XM, Li DZ, Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F., Int J Lab Hematol, 37(6), 752-7, 2015 PubMed
- Pirastru M, Manca L, Trova S, Mereu P, Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child., Biomed Res Int, 2017(0), 1261972, 2017 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-25 16:10:37 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-12-14 09:32:49 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2020-01-17 11:12:11 | The IthaGenes Curation Team | Reviewed. Reference added |
| 5 | 2020-12-17 23:37:25 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 6 | 2020-12-17 23:39:05 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 7 | 2021-11-25 16:10:37 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07