Characterization of a new hemoglobin variant: Hb Badalona (β31[B13]Leu→Val)

Hemoglobin (Hb) Badalona was identified in a 35-year-old Spanish female and two other family members. All affected subjects presented erythrocytosis and increased oxygen affinity (P(50): 21 mmHg). Hemoglobinopathy was not detected with electrophoretic methods. It was, however, separated and quantifi...

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Bibliographic Details
Published in:Annals of hematology 2002-04, Vol.81 (4), p.179-181
Main Authors: JUNCA, J, VILLEGAS, A, ROPERO, P, GONZALEZ, F. A, MOTOS, A, VALVERDE, F
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Amino Acid Substitution
Anemias. Hemoglobinopathies
Biological and medical sciences
Chromatography, High Pressure Liquid
Diseases of red blood cells
DNA Mutational Analysis
Family Health
Female
Genetic Variation
Globins - genetics
Hematologic and hematopoietic diseases
Hemoglobinopathies - genetics
Hemoglobins, Abnormal - chemistry
Hemoglobins, Abnormal - genetics
Hemoglobins, Abnormal - metabolism
Humans
Medical sciences
Oxygen - metabolism
Oxyhemoglobins - analysis
Point Mutation
Polycythemia - etiology
Polycythemia - genetics
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Summary:Hemoglobin (Hb) Badalona was identified in a 35-year-old Spanish female and two other family members. All affected subjects presented erythrocytosis and increased oxygen affinity (P(50): 21 mmHg). Hemoglobinopathy was not detected with electrophoretic methods. It was, however, separated and quantified by cation exchange and reverse-phase high-performance liquid chromatography. Hb Badalona accounted for 35% of the total Hb. No significant clinical symptoms were found to be related to this hemoglobinopathy. This is the first case of a Leu-->Val replacement at position beta31(B13) reported in the world literature.
ISSN:0939-5555
1432-0584
DOI:10.1007/s00277-002-0447-6