Hemophilia Carrier Status and Counseling the Symptomatic and Asymptomatic Adolescent

Winikoff, Rochelle; Lee, Christine

doi:10.1016/j.jpag.2010.08.010

Cited by 15 publications

(11 citation statements)

References 14 publications

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“…Ideally, confirmation of a girl’s carrier status would be deferred, if possible, until she has the capacity to request the testing herself after appropriate discussion. 69…”

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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“…Ideally, confirmation of a girl’s carrier status would be deferred, if possible, until she has the capacity to request the testing herself after appropriate discussion. 69…”

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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“…Genetyczne potwierdzenie nosicielstwa hemofilii we wczesnym dzieciństwie może spowodować negatywny efekt psychologiczny poprzez obniżenie poczucia własnej wartości czy wywołanie strachu przed chorobą. Przeprowadzenie badań genetycznych zaleca się przed planowaną ciążą, aby uniknąć inwazyjnych badań prenatalnych u kobiet, u których nosicielstwo zostanie wykluczone [8].…”

Section: Wprowadzenieunclassified

Ciąża, poród i połóg u nosicielki hemofilii

2016

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“…Girls with low levels of FVIII and FIX may suggest carrier diagnosis in haemophilia A and B respectively without any need for genetic testing. Those with levels of clotting factor less than 40% have a bleeding risk of three times the normal [61]. Hence, carriers of haemophilia with a diagnosis based on factor level may face many bleeding symptoms that must be managed appropriately.…”

Section: Legal Perspectivesmentioning

confidence: 99%

Youth perspectives on genetic inheritance, carrier status and disclosure

Barrie

2016

The Journal of Haemophilia Practice

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Knowledge about genetic inheritance as a concept in children and young people with bleeding disorders is synonymous, in many ways, with other inherited genetic conditions. Children and young people have a more physiological understanding of inheritance, but may hold mistaken and inaccurate beliefs in understanding basic genetics. There are complex ethical and social problems in the genetic testing of youngsters with bleeding disorders to establish carrier status. Current guideline recommendations indicate circumstances where clear psychosocial and medical benefits can be demonstrated. However, children and young people have a reduced capacity to understand the tests and their implications, and in many cases family communication may impact the extent of disclosure of genetic risk factors. This paper explores the genetics of inherited bleeding disorders, including basic knowledge of the concept of inheritance and reproductive risks. Carrier status in children and young people will be considered, drawing on legal rulings that may shed light on best practice in establishing carrier status based on genetic testing. Communication patterns within families around inherited bleeding disorders and the complicated process of disclosure will also be discussed.

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Hemophilia Carrier Status and Counseling the Symptomatic and Asymptomatic Adolescent

Cited by 15 publications

References 14 publications

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

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

Ciąża, poród i połóg u nosicielki hemofilii

Youth perspectives on genetic inheritance, carrier status and disclosure

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