Hb Johnstown [?109 (G11) Val?Leu]: Second case described and associated for the first time with ?0-thalassemia in two Spanish families

Abstract

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, two members are affected with Hb Johnstown in association with beta(0)-thalassemia. In these cases the erythrocytosis and low values for P(50) due to Hb Johnstown remain in spite of the beta-thalassemia.