A Patient With Coinheritance of Alpha-Globin Gene Triplication and IVSI-5 Mutation of Beta-Globin Gene
| Author | Majid Naderi | en |
| Author | Ibrahim Miri-Moghaddam | en |
| Author | Akbar Dorgalaleh | en |
| Author | Shaban Alizadeh | en |
| Author | Shadi Tabibian | en |
| Author | Masoud Pishjoo | en |
| Orcid | Majid Naderi [0000-0002-4566-8202] | en |
| Issued Date | 2015-05-28 | en |
| Abstract | The –α 3.7 rightward deletion is the most frequent α-globin mutation but ααα (anti 3.7) triplication is relatively rare. We describe 2 years old female that was heterozygous of IVSI-5 mutation and homozygous α 3.7 triplication. The hematological picture of β-thalassemia heterozygotes with a triplicated α-globin gene arrangement is variable. Suggested that homozygous alpha-gene triplication interacts with a severe β-thalassemia mutation to cause α-chain excess equivalent to that observed in homozygous β-thalassemia intermedia. | en |
| DOI | https://doi.org/10.17795/zjrms975 | en |
| Keyword | Thalassemia Intermedia | en |
| Keyword | Alpha 3.7 Triplication | en |
| Keyword | β-Thalassemia | en |
| Publisher | Brieflands | en |
| Title | A Patient With Coinheritance of Alpha-Globin Gene Triplication and IVSI-5 Mutation of Beta-Globin Gene | en |
| Type | Case Report | en |
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