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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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
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
- 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
- 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-25 16:10:37 (Show full history)
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