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

Abstract

Lack of detailed natural history and outcomes data for neonates and toddlers with haemophilia hampers the provision of optimal management of the disorder. We report an analysis of prospective data collected from 580 neonates and toddlers aged 0-2 years with haemophilia enrolled in the Universal Data Collection (UDC) surveillance project of the Centers for Disease Control and Prevention (CDC). This study focuses on a cohort of babies with haemophilia whose diagnosis was established before the age of two. The mode of delivery, type and severity of haemophilia, onset and timing of haemorrhages, site(s) of bleeding, provision of prophylaxis with coagulation factor replacement therapy, and the role played by the federally funded Haemophilia Treatment Centers (HTC) in the management of these infants with haemophilia were evaluated. Seventy-five per cent of haemophilic infants were diagnosed early, in the first month of life, especially those with a family history or whose mothers were known carriers; infants of maternal carriers were more likely to be delivered by C-section. Involvement of an HTC prior to delivery resulted in avoidance of the use of assisted deliveries with vacuum and forceps. Bleeding from the circumcision site was the most common haemorrhagic complication, followed by intra- and extra-cranial haemorrhages and bleeding from heel stick blood sampling. Eight per cent of the infants were administered factor concentrate within 24 h of birth; more than half were treated to prevent bleeding. This study highlights the significant rate and the sites of initial bleeding unique to very young children with haemophilia and underscores the need for research to identify optimal evidence-based recommendations for their management.

Delayed Bleeding in a Toddler

“…Up to 20% of patients present with intracranial hemorrhage or scalp bleeding as their initial presentation of hemophilia as in our patient. 8 Interestingly, our patient did not present with abnormal hemorrhage until age 21 months despite his severe phenotype. Late onset of symptoms in severe hemophilia may be due to the presence of prothrombotic factors, such as Factor V Leiden mutation, protein C deficiency, or prothrombin G20210A mutation.…”

A case for expanding carrier testing to include actionable X‐linked disorders

“…This condition can result in a coagulopathy with the possibility of high morbidity when not properly managed. Males with severe factor VIII deficiency are usually diagnosed during the neonatal period through birth‐related trauma or neonatal‐related procedures 2. Molecular studies estimate that at least 30% of newly diagnosed cases of hemophilia occur because of a de novo variant and thus without a positive family history 3.…”

Women leaders in hematology: Inspirations & insights

“…I watched my mentor, Dr. Lusher, treat them with so much kindness and grace; I wanted to be like her. It was on her and Dr. Bruce Evatt's advice that I did a sabbatical at the CDC that further cemented and enhanced my career [14]. Over the years, I have witnessed the progress in hemophilia care and am delighted that it is possible to dream of a cure.…”