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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Curtin, P, Pirastu, M, Kan, Y W, Gobert-Jones, J A, Stephens, A D, Lehmann, H
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1985
Assuntos:
Research Article
Acesso em linha: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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