What is the baby’s risk of inheriting hemophilia maternally?

Question

Hello doctor,

My 26-year-old daughter has hemophilia A, and I am very worried about her plans to get pregnant next year. She was diagnosed at age eight after undergoing an appendectomy, during which she would not stop bleeding for three days. Her factor VIII levels are usually around 15 to 20 percent, which her hematologist says indicates moderate hemophilia, but her periods have always been extremely heavy.

She typically bleeds for nine to 10 days each month and sometimes has to change super tampons every hour. Last month, she ended up in the ER (emergency room) because her hemoglobin dropped to 7.8 due to heavy bleeding; she was treated with factor VIII concentrate and Tranexamic acid, which helped. I am concerned about what might happen during delivery.

She currently takes birth control pills continuously to skip her periods, but she plans to stop them to conceive. Her boyfriend does not seem to understand how serious hemophilia can be and thinks she only needs to take iron supplements. Can women with hemophilia have safe pregnancies? What about epidurals during labor—I have read that spinal bleeding could be dangerous. I am also worried about the baby inheriting hemophilia, since her father was a carrier.

Please help.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

I am deeply concerned about your situation. Hemophilia is caused by a genetic mutation on the X chromosome that leads to a deficiency in essential blood-clotting factors. A mother with hemophilia has a 50 percent chance of passing the condition to her children. If the baby is a boy, he will have XY chromosomes, and since hemophilia affects the X chromosome, the risk is high. If the baby is a girl, she will have XX chromosomes; if one X is affected, the other healthy X can compensate, making her a carrier rather than affected.

As soon as pregnancy is confirmed, she should begin antenatal care at a tertiary care hospital, where a multidisciplinary team can provide guidance. She should start taking folic acid 5 mg (milligrams) daily from the preconception period until the end of the first trimester. Recommended obstetric ultrasounds include a dating scan at seven to nine weeks, a nuchal translucency scan at 11–13+6 weeks, an anomaly scan at 18–20+6 weeks, and growth scans every four weeks after 28 weeks. Baseline investigations should include blood group and cross-match, complete blood count, urine examination, random blood sugar, viral markers, and levels of factor VIII and IX.

Delivery should take place at a tertiary care hospital with the presence of a multidisciplinary team, including senior anesthesiologists, obstetricians, hematologists, and access to a blood bank. Blood should be arranged in advance, and a postpartum hemorrhage (PPH) management plan should be prepared, as there is a high risk of heavy bleeding during and after delivery.

I hope this helps.

Please follow up if you have any further concerns.

Thank you.