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

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 thera...

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Bibliographic Details
Published in:Italian journal of pediatrics 2021-07, Vol.47 (1), p.157-157, Article 157
Main Authors: Agnieszka, Berendt, Monika, Wójtowicz-Marzec, Barbara, Wysokińska, Anna, Kwaśniewska
Format: Article
Language:English
Subjects:
Babies
Bleeding
Blood coagulation disorders, inherited
Case Report
Central nervous system
Cesarean section
Coagulation factor VIIa
Coagulation factors
Congenital diseases
Diagnosis, Differential
Differential diagnosis
Disease prevention
Factor VIII - administration & dosage
Female
Females
Genetic diseases, inborn
Genetic disorders
Gestational age
Haemophilia
Hemophilia
Hemophilia A - diagnosis
Hemophilia A - therapy
Humans
Infant newborn
Infant premature
Infants
Injection
Motor skill
Mutation
Nervous system
Patients
Turner syndrome
Turner Syndrome - complications
Turner's syndrome
Ventilators
X chromosomes
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Summary: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. 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 
ISSN:1824-7288
1720-8424
1824-7288
DOI:10.1186/s13052-021-01103-7