A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.
We describe an English family with an atypical gamma delta beta-thalassemia syndrome. Heterozygosity results in a beta-thalassemia phenotype with normal hemoglobin A2. However, unlike previously described cases, no history of neonatal hemolytic anemia requiring blood transfusion was obtained. Gene m...
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| 發表在: | J Clin Invest |
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| Principais autores: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
American Society for Clinical Investigation
1985
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC424127/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2997283/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI112136 |
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