IthaID: 1397

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
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)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


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

Other details

Type of Mutation: Fusion
Ethnic Origin: Papuan New Guinea, Canadian, Bangladeshi, Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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
  3. Sreedharanunni Sreejesh,Chhabra Sanjeev,Hira JasbirKaur,Bansal Deepak,Sharma Prashant,Das Reena, β-Thalassemia Intermedia Caused by Compound Heterozygosity for Hb Lepore-Hollandia and β-Thalassemia is Rare in the Indian Population., Hemoglobin, 5(5), 362-5, 2016 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2021-11-25 16:04:16 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.