Hb Johnstown [β109 (G11) Val→Leu]: Second case described and associated for the first time with β0‐thalassemia in two Spanish families

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 ch...

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Bibliographic Details
Published in:American journal of hematology 2000-12, Vol.65 (4), p.298-301
Main Authors: Ropero, P., Villegas, A., González, A.F., Anguita, E., Sánchez, J., Carreño, D.L., Arrizabalaga, B., Atuxta, L.
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
Biological and medical sciences
Diseases of red blood cells
erythrocytosis
genotype
Hematologic and hematopoietic diseases
hemoglobin high oxygen affinity
Medical sciences
mutations DNA level
phenotype
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Summary: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 β0‐thalassemia. In these cases the erythrocytosis and low values for P50 due to Hb Johnstown remain in spite of the β‐thalassemia. Am. J. Hematol. 65:298–301, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:0361-8609
1096-8652
DOI:10.1002/1096-8652(200012)65:4<298::AID-AJH8>3.0.CO;2-K