Monika Asnani | Sickle cell disease and reproductive health

Sickle cell disease (SCD) is a genetic blood disorder that occurs when a baby inherits an abnormal haemoglobin gene from each parent. Haemoglobin is a protein in your red blood cells that transports oxygen across the body.

SCD affects all organs and systems in the body - including one’s reproductive system. Most persons with SCD can have children but, occasionally, challenges occur as a result of the effects of the disease itself or sometimes from the treatments that are used to manage the condition.

For example, though not available in Jamaica, existing transformative or curative therapies like bone marrow transplants and gene therapies use medications that can affect the gonads (ovaries in females, testicles in boys). Young persons with SCD thinking of these therapies will therefore need guidance on options that may allow them to have children later.

In men, sickling events can impact testicular function leading to low sperm count or poor sperm quality. Priapism, a painful, prolonged erection, is a condition that can occur in young boys and men and, if not managed urgently, may lead to impotence. Occasionally, frequent blood transfusions and/or use of hydroxyurea may also impair sperm production - even though both treatments help reduce the impact of sickle cell disease.

Women with SCD may also have various challenges across their reproductive life cycle. Girls may undergo puberty a little later (as may boys also), may have irregular, heavy and painful menstrual cycles, and may have reduced ovarian function from frequent sickling. The reproductive lifespan (i.e. the time between onset of menstruation and menopause) in women with SCD may be shorter as they might also face menopause at younger ages. Despite these concerns, most women with SCD can conceive naturally and carry their pregnancy to successful completion. Importantly, however, pregnancy in a woman with SCD is considered a HIGH-RISK event and needs very careful monitoring by obstetricians (trained in maternal-foetal medicine if available), and experts in the management of SCD.

PREGNANCY IN SCD: WHAT TO EXPECT

Because of many advances in medical care, persons with SCD are enjoying longer and healthier lives. More and more, then, persons with SCD are becoming desirous of starting families and having babies. Pregnancy, however, can pose many challenges and complications, and requires careful planning.

SCD can increase risks of complications for both the mother and the baby. Common problems include:

• Increased frequency of acute painful crises - which at times may require hospitalisations

• Anaemia, which occurs with SCD, can worsen during a pregnancy

• Pre-eclampsia and high blood pressure can occur, especially if the woman already has some kidney damage from the SCD before she gets pregnant

• Infections - including urinary tract infections and chest infections - may be more prevalent

• The risk of maternal death in SCD is 4 to 7 times higher than in a woman without SCD

• Increased risk of miscarriages

• Babies may be born pre-term/ premature.

• Babies may be of lower birth weight than for women without SCD

• Occasionally, complications such as chest ‘crises’ (acute chest syndrome), severe pain events, heart failure may occur AFTER delivery

It is therefore recommended that, if a woman with SCD is desirous of having a baby, she gets focused pre-pregnancy counselling from an expert. Unplanned pregnancy should be avoided and hence women are strongly encouraged to use effective birth control once they become sexually active. Some key areas to discuss before getting pregnant include:

• Getting the partner tested for SCD, and genetic counselling to understand the risk of having a baby with SCD

• Ensuring any complications of SCD - like kidney or heart complications - are under good control

• Some medications like hydroxyurea or certain kidney medications may need to be stopped or adjusted

• Ensuring all vaccinations for the mother are up to date

• Understanding nutritional needs during pregnancy and starting appropriate vitamins

Once pregnant, management will include:

• More frequent antenatal visits than in pregnant women without SCD: so they can be closely monitored for complications such as infections, or high blood pressure

• Counselling about how to decrease the risk of some complications and what to do if problems arise

• A team of experts (including sickle cell experts, pregnancy experts, heart experts and others) may need to monitor the pregnancy, especially in those women who have a higher risk of complications

• The baby might need to be delivered a little sooner than the due date

• Pregnant women might need blood transfusions if complications occur. Hence, they are counselled to have blood donors available

• It is preferred that the woman have a vaginal delivery, unless a Caesarean section is recommended for any particular complications

• Reliable family planning should be started soon after the pregnancy ends

Women with SCD should be encouraged to breastfeed their newborn babies, once their doctor has made any adjustments to their medications that might be needed before breastfeeding. Each baby born in Jamaica is screened at birth for SCD - which is especially important in babies whose mother has SCD! They should aim to get the results of this screening as soon as possible.

In short, men and women with SCD can have healthy babies. A pregnancy in a woman with SCD is considered high-risk but can be managed successfully if the woman, her partner and family, and her medical team work together effectively from the pre-pregnancy period, through the duration of pregnancy and in the immediate post-partum period. Early planning, regular checkups, understanding potential complications and avoiding risks, can all lead to happy outcomes.

Prof Monika Asnani is the director of Sickle Cell Unit, Caribbean Institute for Health Research, UWI. Send feedback to monika.parshadasnani@uwimona.edu.jm