An inherited bleeding disorder is haemophilia. This indicates that genetics are involved. Even those without the illness but with the genetic information can nonetheless pass the gene on to their offspring.
Haemophilia is a bleeding disorder characterised by abnormal blood clotting. Because this condition is genetically inherited, it runs in families. A person might be classified as a carrier or as having the disorder if they inherit the impacted genes.
Learn more about who is more likely to be a haemophilia carrier, what tests can determine whether you are, and what it means to be a carrier.
What is a hemophilia carrier?
A person who carries the haemophilia genes (Factor VIII or Factor IX) is known as a haemophilia carrier. Because the haemophilia genes are located on the X chromosome, carriers can only be female.
There are two X chromosomes in females. If one of those chromosomes is compromised, the other might compensate by supplying the blood with the necessary clotting components. As a result, a woman may carry the haemophilia gene but not the actual disease.
Conversely, males only have one copy of the X chromosome. If it is compromised, the individual will have haemophilia with no backup.
Language matters
Within the context of this article, "male" and "female" refer to an individual's chromosomal sex rather than their gender.The mentioned research designates people with XY chromosomes as "male," "father," and "son," and people with XX chromosomes as "female," "mother," and "daughter." The X chromosome is directly linked to the hereditary causes of haemophilia.The sex a person was assigned at birth may not match their gender identification.
How to tell if you are a hemophilia carrier
Blood tests might be ordered by your doctor to determine your carrier status.
The accuracy of a factor assay, also known as a clotting factor test, ranges from 80 to 90 percent when identifying carriers. However, aspects including being pregnant, nursing, and using birth control pills can influence the test's outcome.
An additional alternative is genetic (DNA) testing. In this kind of test, a blood sample is examined to search for particular genes that cause haemophilia. Another consideration that physicians take into account when interpreting test findings is a family history of haemophilia. The accuracy of genetic testing in identifying carrier status is almost 100%.
How is carrier screening done?
The procedure for doing screening tests involves drawing blood. A lab blood test will be prescribed by your physician. You may have to wait up to three months for the results after donating your blood. If you are pregnant, you might receive your results earlier.
What do carrier screening results mean?
If your test is positive, it indicates that one of your X chromosomes contains the genetic material necessary for haemophilia. This implies that you can give the gene to your offspring.
What happens if test results show I am a carrier?
You can discuss the specifics with your doctor if your results indicate that you are a carrier.
The Centres for Disease Control and Prevention (CDC) state that your carrier status is based on your amount of clotting factor:
- You have mild, moderate, or severe haemophilia if your clotting factor level is less than 40%.
- You are a symptomatic carrier if you have bleeding symptoms and a clotting factor level of 40% or higher.
- You are an asymptomatic carrier if you have a clotting factor level of 40% or above without experiencing bleeding symptoms.
Who should have carrier screening?
If you're a woman: You may be a carrier of haemophilia.
- The father you were born with is haemophiliac.
- You have multiple children who suffer from haemophilia.
- Both your child and another blood relative suffer from haemophilia.
If not, you might want to think about screening if:
- You're experiencing bleeding sensations.
- You have haemophilia if it runs in your family.
- You wish to have children with your male spouse who has haemophilia.
When should I have carrier screening?
At any point, you have the option to go through a carrier screening.
Still, others choose to undergo screening before becoming pregnant. At this point, testing can assist you in comprehending the meaning of being a carrier and the ramifications for your future offspring.
What if both parents are carriers?
Male children inherit the Y chromosome, hence a father who is a carrier cannot pass on the impacted X chromosome to his offspring. But because they will receive the mutated (and unique) X chromosome from their father, all female offspring of a carrier will likewise be carriers.
Haemophilia would result from any male offspring receiving their mother's faulty X chromosome. Similarly, female offspring who receive an X chromosome mutation 100% of the time from their father may also receive the mutation from their mother. A female child will have haemophilia if she inherits two X chromosomes that are impacted.
You can assess the likelihood that your child will have haemophilia with the assistance of a genetic counsellor.
What’s the outlook for people with hemophilia?
Haemophiliacs can lead long, mostly healthy lives. The lost clotting factors are replaced as part of the treatment. This can be carried out preventatively (to halt bleeding) or in response to an acute injury (to stop active bleeding).
Treatment by physicians who are experienced with the disease must be continued. According to some earlier studies, patients who receive treatment in haemophilia treatment centres had hospitalisation and mortality rates for bleeding that are 40% lower than those of patients who do not receive this specialised care.
Haemophiliacs who are untreated run the risk of developing renal, heart, or joint problems.
FAQs
Are males carriers of hemophilia?
All of a father's daughters inherit his haemophilia allele and become heterozygous (carriers) when he passes on his haemophilia allele through his single X chromosome. Since a father passes on his Y chromosome to his kids, he is unable to pass on an allele that causes haemophilia.
Can a hemophiliac have a baby?
Pregnant and delivery-related bleeding is more common in women with inherited bleeding disorders, such as haemophilia A and B carriers or von Willebrand disease. The bleeding problem may potentially affect the foetus, for which special precautions need to be taken.
Can hemophilia be cured?
There is currently no cure for hemophilia
Takeaway
It is possible to determine if you have the haemophilia gene by a straightforward blood test. In certain situations, carriers may experience symptoms. You should discuss any necessary treatments or safety measures with your doctor to prevent excessive bleeding.
To talk about how your carrier status can impact your future offspring, your doctor can recommend that you see a genetic counsellor.
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