β-thalassemia major evolution from β-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15
β-thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutations (HBB gene). Most cases are inherited from parents who both have diseased alleles of the HBB gene. We report a patient with late-onset β-thalassemia major that evolved from β-thalassemia minor in...
मुख्य लेखकों: | , , , , , |
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स्वरूप: | लेख |
भाषा: | English |
प्रकाशित: |
Ferrata Storti Foundation
2008-06-01
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श्रृंखला: | Haematologica |
ऑनलाइन पहुंच: | https://haematologica.org/article/view/4885 |