Pregnancy when having Pyruvate Kinase Deficiency

In the medical literature, there are only a few pregnancies that have been reported in women with pyruvate kinase deficiency. However, the few existing reports do conclude that pkd is associated with successful pregnancies, even though there probably is a higher risk for some complications, such as pre-eclampsia and fetal growth restriction.

Unfortunately, there are no official guidelines (yet) for managing pregnancy with pkd, but you can search for information about pregnancy during other similar diseases such as Thalassemia. You and your doctor might find that information useful in your case as well.

As a person with pkd who is pregnant or who wants to become pregnant, there are some things to consider before and during your pregnancy.

When you want to become pregnant

Genetic counseling    
If you or your partner have pkd and you  are planning a family, you might have questions about the genetic transmission of your disease. Some patients would want to have a genetic test to see if the partner of the baby carries the gene of pkd.
Read more about genetic counseling.

“Before trying to conceive, my husband did a genetic test. We were so relieved to learn that he is not a carrier and our children would not have pkd.”
Female, 29 years

Ferritin-control
When you have decided that you want to try becoming pregnant, you should take your ferritin-value into consideration. A pregnancy in itself may lower your ferritine levels (because the baby will need some of your iron), but because some women need extra blood transfusions during their pregnancy, the extra blood transfusion can result into more iron accumulation. To compensate for this extra iron accumulation, your doctor might advise you to prepare for pregnancy by lowering the ferritin before trying to conceive. Some doctors might find it best to increase the dose of chelation therapy during a year or months before trying to become pregnant. The iron chelators deferasirox and deferiprone should ideally be stopped 3 months before conception. Your doctor might want you to convert to desferrioxamine iron chelation instead.
Read more about iron overload, ferritin and chelation therapy.

Folic acid
If you are planning to start a family, you should talk to your doctor about supplementing with folic acid. Taking a folic acid supplement is crucial as it helps prevent some birth defects, such as spina bifida. This is important for all women trying to conceive, but even more if you have pkd, because folic acid is needed for red blood cells to form and grow. Ask your doctor which dosage you need.

Heart check-up
Your doctor might advise you to see cardiologist and have an echocardiogram and electrocardiogram (ecg) before embarking on a pregnancy. That way, the cardiologist will determine how well your heart will support a pregnancy and will check for any iron-related heart problems.

Vaccination status
If your spleen has been removed, your doctor should review your vaccination status before getting pregnant, because you are at higher risk for some infections. The pneumococcal vaccine should be given every 5 years.

When you are pregnant

Adjusting treatment
Tell your doctor as soon as possible that you are pregnant, so that he or she can adjust your treatment. Your doctor will review the medication you’re currently using and if necessary make some adjustments.
This may apply to the chelation therapy, since most chelation medication is dangerous for the baby, especially during the first trimester. Desferrioxamine is the only chelation agent with evidence for use in the second and third trimester.
You should also talk about adjusting the intake of folic acid if you need a higher dosage.

Blood transfusions
Some transfusion dependent patients might need transfusions more often during pregnancy. If you are a non-transfusion dependent patient, you might need transfusions during pregnancy. Discuss what level your hemoglobin value should be to keep both you and your baby in the best condition and be sure to have extra blood tests if needed.
Read more about blood transfusions.

Screening tests
Women who are transfused regularly are at risk of transfusion-transmitted infections. If you have had regular blood transfusions before pregnancy, your doctor will therefore advise a screening test (blood test) for HIV and hepatitis viruses.

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Get specialized care
During pregnancy, you will need a close follow up with both an obstetrician and hematologist. If possible, you should get in contact with a specialist obstetrician who can follow you through your pregnancy. The specialist might want to keep an extra eye on your:

  • ferritin levels
  • liver values
  • hemoglobin value
  • blood pressure
  • blood sugar
  • ecg (electrocardiography, measures your heart activity)

You might also need:

  • extra ultrasound
  • echocardiography
  • blood flow measurement

“My hematologist and obgyn did follow me very closely during my pregnancy. I had regular blood test to check my hemoglobin and did a lot of ultrasounds and fetal monitoring… they would leave nothing to chance. Even though I had to spend a lot of time in hospital, I felt very relieved being in such good hands”
Female, 30 years

Say no to iron supplement
Most women need iron supplement during pregnancy and there is a big chance someone, a midwife or other hospital personnel, who doesn´t have the knowledge on pkd, will recommend iron supplement during pregnancy. If you have pkd  there is a high risk that you ferritin levels are already too high. This will probably be the case if you are transfusions-dependent, but even if you don’t need regular transfusions your iron level could be too high because of the pkd. Be very careful with prenatal vitamin supplements, since most of them contain iron. You should always consult your doctor before taking supplements.

Influenza vaccine
Your doctor might recommend you to have a flu shot, especially if your spleen is removed.
When you’re pregnant, your immune system changes and you are at higher risk for complications of flu. Getting the flu during pregnancy also raises the risk of pregnancy complications, such as premature labor and delivery. The flu shot will also protect your baby against flu, up to six months after birth.

Prevention of thrombosis
If you have had your spleen removed, it is possible that you have a high platelet count. Since during pregnancy there is a higher risk for thrombosis, some doctors might want to start a treatment to prevent thrombosis, such as low dose aspirin or heparin shots. Discuss this with your hematologist.

Prepare for birth

Your doctor and/or midwife will discuss a prepared c-section if needed. If you are planning a vaginal birth you should talk to your midwife about preparing hospital personnel by giving them the information they need about your condition.
They should have full information on your blood typing to give you the right type of blood if needed. Some specialists recommend an induced labor at a set date to have everything prepared for your delivery.

“My obgyn decided to plan my delivery by inducing labor one week prior to my due date. I had a blood transfusion two days earlier, and they ordered extra blood for the day of the delivery. Despite the medical setting, i had an unforgettable, natural vaginal birth.”
Female, 30 years

If you did not have the possibility/or chose not to have a genetic test of the father of the baby, you don´t know if the baby might have pkd. In that case, the hospital personnel should be informed to give the baby the necessary treatment that he or she might need.
Read more about how pkd is inherited.

Breastfeeding

Although there is no research to confirm, breastfeeding seems safe when you have pkd. It can even help you to lower your iron overload, because your milk contains the much needed iron for your baby. If you plan to breastfeed, you should discuss this with your doctor, as he’ll need to review your medication to check if it is save during breastfeeding.

References:

  • Grace et all. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol 2015 Sep;90(9):825-30.
  • Wax J, Pinette M, Cartin A, Blackstone J. Pyruvate kinase deficiency complicating pregnancy. Obstet Gynecol 2007;109:553–555
  • Dolan L, Ryan M, Moohan J. Pyruvate kinase deficiency in pregnancy complicated by iron overload. Br J Obst Gyn 2002;109:844–846.
  • Fanning J, Hinkle R. Pyruvate kinase deficiency hemolytic anemia: Two successful pregnancy outcomes. Am J Obstet Gynecol 1985;153:313–314.
  • Amankwah KS, Dick BW, Dodge S. Hemolytic anemia and pyruvate kinase deficiency in pregnancy. Obstet Gynecol 1980;55:42S–45S.
Disclaimer: This article is written by patients and is meant for basic informational purposes only. It is not intended to serve as medical advice, substitute for a doctor's appointment or to be used for diagnosing or treating a disease. Users of this website are advised to consult with their physician before making any decisions concerning their health. For details see our full disclaimer.

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