Article
Hb Johnstown [beta 109 (G11) Val-->Leu]: second case described and associated for the first time with beta(0)-thalassemia in two Spanish families.
American journal of hematology - 1 Dec 2000
Ropero P, Villegas A, González A F, Anguita E, Sánchez J, Carreño D L, Arrizabalaga B, Atuxta L
Abstract excerpt
Hb Johnstown, a high oxygen affinity hemoglobin, was identified in four members from two unrelated Spanish families with erythrocytosis and left-shifted hemoglobin-oxygen dissociation curve. This hemoglobin variant, electrophoretically silent, was analyzed by reverse-phase high-performance liquid chromatography, and the mutation was characterized at the DNA level by beta gene sequencing. In one of these families,...
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