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Hb Johnstown [β109 (G11) Val→Leu]: Second case described and associated for the first time with β 0 ‐thalassemia in two Spanish families
Author(s) -
Ropero P.,
Villegas A.,
González A.F.,
Anguita E.,
Sánchez J.,
Carreño D.L.,
Arrizabalaga B.,
Atuxta L.
Publication year - 2000
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/1096-8652(200012)65:4<298::aid-ajh8>3.0.co;2-k
Subject(s) - hemoglobin , thalassemia , beta thalassemia , hemoglobin variants , hemoglobinopathy , medicine , genetics , mutation , gene , chemistry , hemolytic anemia , endocrinology , biology
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 β gene sequencing. In one of these families, two members are affected with Hb Johnstown in association with β 0 ‐thalassemia. In these cases the erythrocytosis and low values for P 50 due to Hb Johnstown remain in spite of the β‐thalassemia. Am. J. Hematol. 65:298–301, 2000. © 2000 Wiley‐Liss, Inc.