title: Pitfalls in the diagnosis of hemophilia severity: What to do?
abstract: Measurements of factor VIII coagulation activity (FVIII:C) may vary and result in misclassification of hemophilia A with delay in initiation of prophylactic treatment. We describe two young brothers who were diagnosed as moderate hemophilia patients and therefore not prophylactically treated with factor VIII concentrate despite frequent bleeding events. These findings emphasize the importance of (i) multiple measurements of FVIII:C by certified laboratories, (ii) adjustment of treatment when test results do not correspond to clinical symptoms, (iii) relevance of additional DNA mutation analysis in patients with hemophilia A, and (iv) treatment in centers with expertise.
authors.affiliation: Department of Pediatric Hematology, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands.
authors.forename: Iris
authors.initials: I
authors.lastname: van Moort
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Marieke
authors.initials: M
authors.lastname: Joosten
authors.affiliation: Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Moniek P M
authors.initials: MP
authors.lastname: de Maat
authors.affiliation: Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Frank W G
authors.initials: FW
authors.lastname: Leebeek
authors.affiliation: Department of Pediatric Hematology, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands.
authors.forename: Marjon H
authors.initials: MH
authors.lastname: Cnossen
mesh_terms: D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis / Q000009:adverse effects*; D005169:Factor VIII / Q000008:administration & dosage* / Q000032:analysis; D006467:Hemophilia A / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D006470:Hemorrhage / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis; D012720:Severity of Illness Index
chemical_list: D005169:Factor VIII
keywords: diagnosis; factor VIII; hemophilia A