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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Bibliografske podrobnosti

izdano v:	J Clin Invest
Principais autores:	Curtin, P, Pirastu, M, Kan, Y W, Gobert-Jones, J A, Stephens, A D, Lehmann, H
Format:	Artigo
Jezik:	Inglês
Izdano:	American Society for Clinical Investigation 1985
Teme:	Research Article
Online dostop:	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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