Haemophilia in extreme immature preterm infants: increased risk for intracranial haemorrhage?

Fink, Susanne; Kunzmann, Steffen; Andrés, Oliver; Eyrich, Matthias; Wiegering, Verena

doi:10.3109/14767058.2013.825600

Cited by 9 publications

(9 citation statements)

References 25 publications

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“…At our centre, there were no children with mild or moderate haemophilia who experienced ICH, concurring with most other series of ICH in children with haemophilia [14]. One French study found that 50% of ICH occurred in moderate or mild haemophiliacs aged 2-15 years of age [13]; these findings are not supported in this study or other case series to date. The rarity of ICH in mild/moderate haemophilia may support the principle of early prophylaxis in young boys with severe haemophilia.…”

Section: Discussionsupporting

confidence: 85%

“…However the true prevalence of ICH is likely to be underestimated, as asymptomatic babies with ICH may not be investigated or reported . Risk factors for ICH in infants with haemophilia may include: unknown carrier status, prematurity, traumatic birth history and negative family history (FH) . Published figures of mortality resulting from ICH in haemophilia have been as high as 20%, with more recent estimates of 2.5% .…”

Section: Introductionmentioning

confidence: 99%

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The incidence, risk and functional outcomes of intracranial haemorrhage in children with inherited bleeding disorders at one haemophilia center

et al. 2016

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Section: Discussionsupporting

confidence: 85%

Section: Introductionmentioning

confidence: 99%

The incidence, risk and functional outcomes of intracranial haemorrhage in children with inherited bleeding disorders at one haemophilia center

et al. 2016

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“…Premature children display symptoms earlier -usually in the first days after birth [16][17][18][19][20][21][22][23]. This is connected with the significant number of invasive procedures they undergo at NICU.…”

Section: Discussionmentioning

confidence: 99%

Severe haemophilia A in a preterm girl with Turner syndrome: case report – a diagnostic and therapeutic challenge for a paediatrician (Part 2)

et al. 2021

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Background Haemophilia A is an X-linked genetic condition which manifests itself mainly in male children in the first 2 years of life, during gross motor skill development. This disorder is rare in females. The clinical manifestation of severe haemophilia in preterm infants poses a great challenge to the therapeutic team. As extreme prematurity is linked to an increased risk of central nervous system or gastrointestinal bleeding, a well-informed and balanced treatment from the first days of life is crucial to prevent long-term damage. Haemophilia is most commonly caused by inheriting defective genes, and can also be linked to skewed X inactivation and Turner syndrome. The coincidental occurrence of haemophilia A and Turner syndrome is extremely rare, with only isolated cases described to date. Hence, a multidisciplinary approach is needed. Case presentation The authors report on a preterm girl (gestational age 28 weeks) diagnosed with haemophilia and Turner syndrome. The first manifestation of haemophilia was prolonged bleeding from injection sites on the second day of life. Indeterminate aPTT and factor VIII level < 1% confirmed the diagnosis of haemophilia A. Dysmorphic features which did not match the typical clinical picture of haemophilia, the female sex, and a negative paternal family history led to the diagnosis of Turner syndrome. While in hospital, the girl received multiple doses of recombinant factor VIII in response to prolonged bleedings from the injection sites and from a nodule on the girl’s head, and before and after retinal laser photocoagulation. No central nervous system or abdominal cavity bleeding was observed. The substitutive therapy was complicated by the development of factor VIII inhibitor (anti-factor VIII (FVIII) antibodies). Treatment was continued with recombinant factor VIIa. This article aims at demonstrating the complexity of the diagnostics and treatment of a preterm child with two genetic disorders. Conclusions Haemophilia should always be considered in the differential diagnosis of prolonged bleeding, even in patients with a negative family history. In the case of coinciding atypical phenotypic features, further diagnostics for another genetic disease are recommended. Infant care should follow current care standards, while considering certain individual features.

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“…In other situations, however, the “factor first” principle applies, and prophylactic therapy should be strongly considered after a difficult delivery, or if significant facial or cranial bruising is present (Figure 3). Many of the premature newborns with hemophilia reported in the literature have been given prophylactic or empiric factor replacement, 52 –57 and so prematurity should also prompt consideration of prophylactic factor administration (Figure 3). Plans for prophylactic and empiric therapy should be discussed before birth, and included in the written delivery plan.…”

Section: Postnatal Carementioning

confidence: 99%

“…Experience with management of premature newborns with hemophilia is limited to case reports. 52 –57 Management of premature newborns should be determined on an individual basis. Delivery and postnatal care should occur at an HTC.…”

Section: Other Issuesmentioning

confidence: 99%

A Practical Guide to the Management of the Fetus and Newborn With Hemophilia

Moorehead

Chan

Lemyre

et al. 2018

Clin Appl Thromb Hemost

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Newborns with hemophilia are at risk of intracranial hemorrhage, extracranial hemorrhage, and other bleeding complications. The safe delivery of a healthy newborn with hemophilia is a complex process that can begin even before conception, and continues throughout pregnancy, birth, and the newborn period. This process involves the expectant parents and a wide variety of health-care professionals: genetic counselors, obstetricians, neonatologists, pediatricians, radiologists, adult and pediatric hematologists, and nurses with expertise in hemophilia. Because of this multidisciplinary complexity, the relative rarity of births of newborns with hemophilia, and the lack of high-quality evidence to inform decisions, there is considerable variation in practice in this area. We present a comprehensive multidisciplinary approach, from preconception counseling to discharge planning after birth, and describe available options for management decisions. We highlight a number of areas of important uncertainty and controversy, including the preferred mode of delivery, the appropriate use and timing of neuroimaging tests, and the appropriate use of clotting factor concentrates in the newborn period. While the approach presented here will aid clinicians in planning and providing care, further research is required to optimize the care of newborns with hemophilia.

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Haemophilia in extreme immature preterm infants: increased risk for intracranial haemorrhage?

Cited by 9 publications

References 25 publications

The incidence, risk and functional outcomes of intracranial haemorrhage in children with inherited bleeding disorders at one haemophilia center

The incidence, risk and functional outcomes of intracranial haemorrhage in children with inherited bleeding disorders at one haemophilia center

Severe haemophilia A in a preterm girl with Turner syndrome: case report – a diagnostic and therapeutic challenge for a paediatrician (Part 2)

A Practical Guide to the Management of the Fetus and Newborn With Hemophilia

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