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.
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: | 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
Publications / Origin
- 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
- 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
- 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-25 16:04:16 (Show full history)
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