Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).

We studied the molecular basis of transfusion-dependent hemolytic anemia in an infant who rapidly developed the phenotype of beta thalassemia major. DNA sequence of one beta-globin gene of the proband revealed two mutations, one for the moderately unstable hemoglobin (Hb) Köln and another for a nove...

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Detalhes bibliográficos

Publicado no:	J Clin Invest
Principais autores:	Coleman, M B, Lu, Z H, Smith, C M, Adams, J G, Harrell, A, Plonczynski, M, Steinberg, M H
Formato:	Artigo
Idioma:	Inglês
Publicado em:	American Society for Clinical Investigation 1995
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295500/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7860732/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117691
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