IthaID: 1397



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: N/A HGVS Name: NG_000007.3:g.63290_70702del
Hb Name: Hb Lepore-Hollandia Protein Info: δ-β hybrid (δ through 22; β from 50)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63290
Size: 7.398 kb
Fusion involves: δ, β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:δβ fusion
Associated Phenotypes: N/A

Other details

Type of Mutation: Fusion
Ethnic Origin: Papuan New Guinea, Canadian, Bangladeshi
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. McDonald MJ, Noble RW, Sharma VS, Ranney HM, Crookston JH, Schwartz JM, A comparison of the functional properties of two lepore hemoglobins with those of hemoglobin A1., Journal of molecular biology, 94(2), 305-10, 1975 PubMed
  2. Waye JS, Eng B, Patterson M, Chui DH, Chang LS, Cogionis B, Poon AO, Olivieri NF, Hb E/Hb LeporeHollandia in a family from Bangladesh., American journal of hematology, 47(4), 262-5, 1994 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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