Hb La Coruña [beta38(C4)Thr-->Ile]: a new hemoglobin variant leading to familial polycythemia.
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.
Ropero
Paloma
P
Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, España.
Fernández-Lago
Carlos
C
Villegas
Ana
A
Polo
Marta
M
Mateo
Marta
M
Mora
Asunción
A
González
Fernando A
FA
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
D006455:Hemoglobins, Abnormal; D005914:Globins