What Is Hemophilia?
Hemophilia is an uncommon condition where blood does not clot normally due to insufficient clotting proteins (clotting factors). Individuals with hemophilia experience prolonged bleeding after injuries compared to those with normal clotting. Minor cuts usually are relatively easy. If the person has a severe condition, the main concern is bleeding inside the body, especially in the knees, ankles, and elbows. Internal bleeding can damage organs and tissues and be life-threatening. Hemophilia is predominantly an inherited genetic disorder. Treatment involves routine replacement of the deficient clotting factor. Additionally, alternative therapies devoid of clotting factors are increasingly utilized in management.
What Are the Causes of Hemophilia?
During bleeding, the body normally clots blood by aggregating blood cells. Clotting factors, proteins in the blood, collaborate with platelets to form clots. Hemophilia arises from a deficiency or low levels of a specific clotting factor.
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Congenital Hemophilia: Hemophilia is typically a congenital condition, meaning it is present at birth. Congenital hemophilia is categorized based on the deficient clotting factor type. The prevalent form is hemophilia A, characterized by low factor 8 levels, followed by hemophilia B, marked by low factor 9 levels.
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Acquired Hemophilia: Acquired hemophilia can manifest in individuals without familial hemophilia. This subtype arises when the immune system targets clotting factor 8 or 9. Potential triggers include pregnancy, autoimmune disorders, cancer, multiple sclerosis, and drug responses.
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Hemophilia Inheritance: The common forms of hemophilia stem from a defective gene found on the X chromosome. Each person receives two sex chromosomes—one from each parent. Females inherit an X chromosome from both parents, while males inherit an X chromosome from the mother and a Y chromosome from the father. As a result, hemophilia predominantly affects males and is transmitted from mother to son via one of the mother's genes. Typically, women with the faulty gene are carriers without hemophilia symptoms. However, some carriers may experience bleeding issues with moderately reduced clotting factors.
What Impact Does Hemophilia Have on Pregnancy?
Having a healthcare team is crucial for individuals with hemophilia or those who are carriers and pregnant. The team may consist of professionals such as:
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Obstetrician/gynecologist (OB-GYN).
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Hematologist.
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Anesthesiologist.
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Genetic counselor.
Individuals with hemophilia face increased risks of bleeding complications during pregnancy. Medical professionals will monitor clotting factors regularly through blood tests. The anesthesiologist might advise against using an epidural for labor pain relief due to potential bleeding risks at the injection site. Prepare for alternative pain management choices. The clotting factor levels will guide the healthcare provider in assessing the safety of an epidural for individuals. The primary impact of hemophilia during pregnancy occurs post-delivery. Individuals carrying the hemophilia gene are at elevated risk of experiencing substantial bleeding after childbirth. Following delivery, the elevated clotting factor levels observed during pregnancy decrease to normal or lower levels. Postpartum hemorrhage, characterized by excessive bleeding after childbirth, necessitates immediate medical intervention. Hemorrhage can occur either immediately after delivery or several weeks postpartum.
What Are the Signs and Symptoms of Hemophilia That May Manifest During Pregnancy?
As a carrier of hemophilia, the clotting ability typically suffices to prevent bleeding issues during pregnancy. However, if the person possesses two affected X chromosomes, a rare circumstance, they are likely to experience more pronounced symptoms. The symptoms of hemophilia during pregnancy mirror those experienced when not pregnant and may include:
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Increased bruising.
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Bleeding following blood draws or injections.
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Frequent nosebleeds.
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Oral bleeding.
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Blood is present in urine.
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Joint bleeding.
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Rectal bleeding.
Does Having Hemophilia During Pregnancy Impact the Baby?
The hemophilia gene can be inherited from parents to their offspring, with a higher likelihood of affecting male children due to their single X chromosome. Gender determination of the baby, particularly if it is male, can be determined via ultrasound or noninvasive prenatal testing (NIPT) even earlier in pregnancy. During pregnancy, specific tests such as amniocentesis, chorionic villus sampling (CVS), or fetal cord blood sampling can be conducted to screen for hemophilia in the fetus. As a carrier of hemophilia, there is a 50 % chance that the XY baby will have hemophilia and a 50 % chance that the XX baby will be a carrier. This condition poses significantly greater severity for children designated male at birth compared to those designated female. If the person has hemophilia or is a carrier and is expecting a male baby, the doctor will take specific precautions during childbirth. They will aim to avoid using forceps or a vacuum during delivery as these instruments can potentially lead to bleeding in the baby's brain if they have hemophilia. When expecting an XY baby, the doctor will also seek to avoid using a fetal scalp electrode to monitor the baby's heart rate. This device can lead to scalp bleeding in a baby with hemophilia.
How Is Hemophilia Managed During Pregnancy?
Treatment for hemophilia during pregnancy and post-delivery may involve:
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Recombinant Factor Concentrates: These are concentrated blood clotting factors used to manage bleeding and improve clotting ability.
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Antifibrinolytic Agents: Medications like Tranexamic Acid (TXA) slow down the breakdown of blood clots, aiding in clot stabilization.
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Desmopressin Acetate (DDAVP): Similar to a natural hormone, DDAVP helps release stored clotting factors, reducing bleeding risk.
The treatment approach depends on the severity of hemophilia and includes managing any bleeding incidents. A comprehensive delivery plan should outline the birthing location and preventive medications for postpartum hemorrhage.
What Is the Prognosis for Someone With Hemophilia During Pregnancy?
The prognosis for pregnant individuals with hemophilia has seen notable improvements in recent decades due to advancements in medical understanding and treatment modalities. With diligent medical care and thorough monitoring, the person can achieve a successful pregnancy and delivery while maintaining good health. It is crucial to adhere to the guidance provided by the healthcare professionals.
Conclusion
Advances in medical knowledge and treatment options have significantly improved the outlook for pregnant individuals with hemophilia. A healthy pregnancy and delivery are achievable with proper medical care and close monitoring. Adhering to healthcare professionals' guidance is crucial for managing hemophilia during pregnancy and ensuring the best possible outcomes for both the mother and the baby.
