title: Hb La Coruña [beta38(C4)Thr-->Ile]: a new hemoglobin variant leading to familial polycythemia.
abstract: Hb La Coruña [beta38(C4)Thr --> Ile] is a new hemoglobin (Hb) variant that has an increased oxygen affinity. Clinically, this Hb leads to erythrocytosis. Hb La Coruña is an electrophoretically silent variant that can be detected by reversed phase high performance liquid chromatography (HPLC) and characterized by DNA sequencing. The patient was a 22-year-old Spanish male whose family lived in La Coruña, in the northwest of Spain. His mother was also a carrier.
authors.affiliation: Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, España.
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero
authors.forename: Carlos
authors.initials: C
authors.lastname: Fernández-Lago
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
authors.forename: Marta
authors.initials: M
authors.lastname: Polo
authors.forename: Marta
authors.initials: M
authors.lastname: Mateo
authors.forename: Asunción
authors.initials: A
authors.lastname: Mora
authors.forename: Fernando A
authors.initials: FA
authors.lastname: González
mesh_terms: D000328:Adult; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D011086:Polycythemia / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D017422:Sequence Analysis, DNA; D013030:Spain
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins