Management of carriers and babies with haemophilia.
Although up to 30% of babies born with haemophilia do not have a family history of the disorder, the remaining 70% are born in families where haemophilia has been diagnosed. It has been estimated that for each male with haemophilia, there are five potential female carriers. Such women will benefit from knowledge of both their genetic (mutation present or not) and phenotype (level of plasma factor activity) status. Genetic counselling services to provide information and testing, together with plasma factor measurement, should be offered where available to all women at risk of being carriers. It is critical that women know their plasma factor measurement as they may have mild haemophilia (factor 5-30%, reference range 50-150%) which requires management at times of medical and surgical procedures and following trauma. Close liaison between adult and paediatric haemophilia centres and obstetric-gynaecology units is important to ensure that clinical carers identify and address carriers' needs. Genetic testing should be performed only after a potential carrier has been counselled and supported to receive such information. There is no coercion to accept such testing. An advantage of genetic testing is to then discuss pre-implantation genetic diagnosis which is an ex-vitro form of prenatal diagnosis. This can assist couples at risk of having a child with haemophilia who wish to reduce their anxieties about reproduction. Approximately 4% of boys with haemophilia, born in countries with good maternal care, will have intracranial haemorrhage in the neonatal period. There are no high-level evidence-based guidelines for the management of delivery or of the newborn with haemophilia. Obstetricians or other birth attendants need to be advised of the possibility of delivery of a boy with haemophilia and seek support from a haemophilia specialist during the pregnancy. The mother can then be monitored and plans for delivery be developed between her medical consultants and discussed with her. It is always preferable for a carrier to know of her genetic and phenotypic status before becoming pregnant so that she is informed as to her options and requirements for safe delivery.
Ronald Sawers Haemophilia Centre, The Alfred, Melbourne, Australia.
A M
AM
Street
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R
Ljung
S A
SA
Lavery
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005164:Factor IX / Q000235:genetics; D005169:Factor VIII / Q000235:genetics; D005260:Female; D005817:Genetic Counseling / Q000941:ethics*; D005820:Genetic Testing / Q000941:ethics; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000517:prevention & control*; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics / Q000517:prevention & control*; D012307:Risk Factors
D005169:Factor VIII; D005164:Factor IX