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Management of carriers and babies with haemophilia

Street, A M; Ljung, Rolf LU and Lavery, S A (2008) In Haemophilia 14(s3). p.181-187
Abstract
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... (More)
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-viro 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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
neonatal, haemophilia B, haemophilia A, foetus, factor VIII, delivery, factor IX
in
Haemophilia
volume
14
issue
s3
pages
181 - 187
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • wos:000256185300026
  • scopus:44249090909
ISSN
1351-8216
DOI
10.1111/j.1365-2516.2008.01721.x
language
English
LU publication?
yes
id
bbfd1997-d8e2-49ad-95e8-b688598b0795 (old id 1202076)
date added to LUP
2008-09-15 14:14:32
date last changed
2017-11-19 03:36:44
@article{bbfd1997-d8e2-49ad-95e8-b688598b0795,
  abstract     = {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-viro 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.},
  author       = {Street, A M and Ljung, Rolf and Lavery, S A},
  issn         = {1351-8216},
  keyword      = {neonatal,haemophilia B,haemophilia A,foetus,factor VIII,delivery,factor IX},
  language     = {eng},
  number       = {s3},
  pages        = {181--187},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {Haemophilia},
  title        = {Management of carriers and babies with haemophilia},
  url          = {http://dx.doi.org/10.1111/j.1365-2516.2008.01721.x},
  volume       = {14},
  year         = {2008},
}