Head of Service of Hematology Hospital General de Valdepenas Valdepenas, Castilla-La Mancha, Spain
Background: It is currently documented that carriers of hemophilia present greater bleeding manifestations than average, however, the path to diagnosis is sometimes tortuous, with a significant delay (especially when there is no direct family history).
Aims: The objective of this paper is to document the experience of a group of women who were diagnosed after delivery as carriers of hemophilia (after the diagnosis of their children) and their bleeding manifestations prior to diagnosis.
Methods: Analytical, retrospective, and descriptive study that documents the bleeding manifestations prior to diagnosis in women who, coincidentally, are labeled carriers of hemophilia (A-B) after delivery (when their children are diagnosed) in a rural hospital in Spain. Clinical and epidemiological variables were collected.
Results: Five women with hemophilia (four with hemophilia A and one with hemophilia B) met the inclusion criteria. None of them documented direct family members diagnosed with hemophilia. The median age was 30 years. The median age at diagnosis after delivery was 11 months, all after the clinical debut of their children. None had significant bleeding complications during delivery. The median FVIIIc was 30.5% in the four carriers of hemophilia A and 35% in the carrier of hemophilia B. Upon reinterrogation, 80% of the sample presented pathological scores on the ISTH-BAT scale (with prevalence of menstrual bleeding excessive, which in one case developed with secondary anemia) without prior hematological assessment being requested.
Conclusion(s): The diagnosis of hemophilia carriers after childbirth is not an anecdotal fact and, although there were no obstetric complications in our sample, the risk of suffering them compromises their quality of life. Despite the fact that a high percentage of the sample presented hemorrhagic manifestations, the absence of a close family history of hemophilia delayed early diagnosis.
