IthaID: 1399



Names and Sequences

Functionality: Globin gene causative mutation
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)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63632
Size: 7.398 kb
Fusion involves: δ, β

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δβ-thalassaemia, δ-chain variant
Allele Phenotype:δβ fusion
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Fusion
Ethnic Origin: Worldwide
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. 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
585Hb Lepore-Boston-WashingtonδD-10Dual Kit Program4.82.69Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC.[PDF]
585Hb Lepore-Boston-WashingtonβD-10Dual Kit Program4.82.69Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC.[PDF]
593Hb Lepore-Boston-WashingtonδD-10Dual Kit Program5.32.69Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
593Hb Lepore-Boston-WashingtonβD-10Dual Kit Program5.32.69Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
588Hb Lepore-Boston-WashingtonδVARIANT IIDual Kit Program13.12.827Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
588Hb Lepore-Boston-WashingtonβVARIANT IIDual Kit Program13.12.827Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
596Hb Lepore-Boston-WashingtonδVARIANT IIDual Kit Program10.82.887Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
596Hb Lepore-Boston-WashingtonβVARIANT IIDual Kit Program10.82.887Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
586Hb Lepore-Boston-WashingtonδVARIANTβ-thal Short Program10.53.5Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
586Hb Lepore-Boston-WashingtonβVARIANTβ-thal Short Program10.53.5Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
594Hb Lepore-Boston-WashingtonδVARIANTβ-thal Short Program9.73.42Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
594Hb Lepore-Boston-WashingtonβVARIANTβ-thal Short Program9.73.42Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
587Hb Lepore-Boston-WashingtonδVARIANT IIβ-thal Short Program11.13.55Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
587Hb Lepore-Boston-WashingtonβVARIANT IIβ-thal Short Program11.13.55Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
595Hb Lepore-Boston-WashingtonδVARIANT IIβ-thal Short Program10.83.5Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]
595Hb Lepore-Boston-WashingtonβVARIANT IIβ-thal Short Program10.83.5Mild microcytic anaemia. Elutes together with HbA2 in CE-HPLC. [PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. 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
Created on 2010-06-16 16:13:17, Last reviewed on 2015-12-14 09:32:49 (Show full history)

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