title: Thrombosis in Hb Taybe [codons 38/39 (-ACC) (α1)].
abstract: Hb Taybe is a highly unstable hemoglobin (Hb) variant caused by a 3 bp deletion at codons 38/39 (-ACC) on the α1-globin gene. We report for the first time, a patient with a compound heterozygosity for Hb Taybe and a 5 bp deletion at the splice donor site of IVS-I on the α2-globin gene and ischemic stroke and priapism. The patient, a male of Palestinian origin, suffered since childhood from moderate hemolytic anemia. Splenectomy was performed at the age of 19. Five years after the splenectomy, recurring attacks of priapism occurred and at the age of 28 the patient had a pontine infarction. A heterozygote prothrombin G20210A mutation was found. We assume that ongoing intravascular hemolysis, splenectomy and the prothrombin G20210A mutation may explain the thrombotic tendency in this case.
authors.affiliation: Department of Haematology, Odense University Hospital, Odense, Denmark. majajuul@dadlnet.dk
authors.forename: Maja Bech
authors.initials: MB
authors.lastname: Juul
authors.forename: Hanne
authors.initials: H
authors.lastname: Vestergaard
authors.forename: Jesper
authors.initials: J
authors.lastname: Petersen
authors.forename: Henrik
authors.initials: H
authors.lastname: Frederiksen
mesh_terms: D000328:Adult; D003062:Codon; D020022:Genetic Predisposition to Disease; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011516:Prothrombin / Q000235:genetics; D013927:Thrombosis / Q000175:diagnosis / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C112848:hemoglobin Taybe; D011516:Prothrombin