Characterization of a new hemoglobin variant: Hb Badalona (beta31[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 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.
Junca
J
J
Servicio de Hematología, Hospital Trias i Pujol, Badalona, Barcelona, Spain.
Villegas
A
A
Ropero
P
P
González
F A
FA
Motos
A
A
Valverde
F
F
D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D014644:Genetic Variation; D005914:Globins / Q000235:genetics; D006453:Hemoglobinopathies / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D010100:Oxygen / Q000378:metabolism; D010108:Oxyhemoglobins / Q000032:analysis; D017354:Point Mutation; D011086:Polycythemia / Q000209:etiology / Q000235:genetics
D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; C458359:hemoglobin Badalona; D005914:Globins; D010100:Oxygen