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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Bibliografiske detaljer
Main Authors: Coleman, M B, Lu, Z H, Smith, C M, Adams, J G, Harrell, A, Plonczynski, M, Steinberg, M H
Format: Artigo
Sprog:Inglês
Udgivet: 1995
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC295500/
https://ncbi.nlm.nih.gov/pubmed/7860732
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