The impact of unaware carriership on the clinical presentation of haemophilia

Abstract

This study was conducted to evaluate the effect of an unaware carriership on the delay in diagnosis of haemophilia and the resulting effect of this delay on morbidity. Information on 73 haemophilia patients (<18 years) and their mothers was gathered from data of patients' medical records and completed by interviews with the parent(s). Although a positive family history was present in 52 gravidae, 16 of them (31%) were not aware of their carrier status at moment of delivery. Fifteen of these 16 unaware carriers, were carriers of a non-severe form of haemophilia. In mothers who were unaware of carriership for haemophilia instrumental delivery occurred more frequently than in mothers who knew they were carriers. This is disquieting since instrumental delivery poses a significant risk (relative risk: 17.8, 95% CI: 4.0-78.4) for intra- or extracranial bleedings in newborn haemophiliacs in comparison to spontaneous deliveries or caesarean sections. In 83% of the patients with a positive family history, diagnosis was established before the first bleeding episode. Patients diagnosed by bleedings presented more often with iatrogenic bleedings (38%) then patients who were diagnosed because of a positive family history (9%) (P < 0.05). In comparison to previous studies, more patients had a positive family history and in more haemophiliacs with a positive family history diagnosis was established before the first bleeding episode. Although this reflects the yield of improved diagnostic methods, further reduction of iatrogenic bleeding is possible by intensifying counselling of mild haemophilia carriers.

Sites of initial bleeding episodes, mode of delivery and age of diagnosis in babies with haemophilia diagnosed before the age of 2 years: a report from The Centers for Disease Control and Prevention’s (CDC) Universal Data Collection (UDC) project

“…In this surveillance study, most infants were delivered vaginally, however infants whose mothers were known to be carriers were diagnosed earlier and were more likely to be delivered by C-S. The rates of C-S have been reported to be as high as 47% in haemophilia carriers in the UK and around 34-35% in the Netherlands, for known carriers and those with a family history of haemophilia [5,11]. The overall US rate for C-S is 30% and is similar to the rate observed in infants in our study who were born without a family history of haemophilia [12].…”

Haemophilia in the first years of life

“…Excluding the birth process, the first year of life is generally uncomplicated by haemorrhage. The requirement for significant factor replacement therapy is limited and diagnosis can be delayed by the absence of both bleeding and/or a prior family history of haemophilia [2]. Under these circumstances, an unexpected major haemostatic challenge, such as surgery or major trauma, can pose a considerable threat to the haemophilic infant.…”

Intracranial Hemorrhage in Newborns With Hemophilia: The Role of Screening Radiologic Studies in the First 7 Days of Life

“…The bleeds that occurred with spontaneous vaginal deliveries were seen in those whose labor exceeded 24 hours. 7 This risk emphasizes the need for recognizing female carriers of hemophilia before delivery and appropriate education of known carriers and the physicians delivering their babies. In 1998, we established a standard of care at our institution to screen the CNS in all babies diagnosed in the first week of life with severe or moderate hemophilia.…”