Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management

Blood Transfus. 2018 Nov;16(6):535-544. doi: 10.2450/2017.0150-17. Epub 2017 Nov 14.

Abstract

Mild haemophilia is defined by factor levels between 0.05 and 0.40 IU/mL and is characterised by traumatic bleeds. Major issues associated with mild haemophilia are that it may not present for many years after birth, and that awareness, even within families, may be low. Methodological problems exist in diagnosis, such as inconsistencies in results obtained from different assays used to measure factor levels in mild haemophilia. Advances in genetic testing provide insight into diagnosis as well as the likelihood of inhibitor development, which is not uncommon in patients with mild or moderate haemophilia and can increase morbidity. The management of patients with mild haemophilia is a challenge. This review includes suggestions around formulating treatment plans for these patients, encompassing the full spectrum from clinical care of the newly diagnosed neonate to that of the ageing patient with multiple comorbidities. Management strategies consider not only the vast differences in these patients' needs, but also risks of inhibitor development and approaches to optimally engage patients.

Publication types

  • Review

MeSH terms

  • Blood Coagulation Factor Inhibitors / blood
  • Blood Coagulation Factors / metabolism*
  • Guidelines as Topic
  • Hemophilia A / blood*
  • Hemophilia A / diagnosis*
  • Hemophilia A / drug therapy*
  • Humans

Substances

  • Blood Coagulation Factor Inhibitors
  • Blood Coagulation Factors