Sickle Cell and Pregnancy

No parents want to transfer their diseases to their child, but unfortunately, it is not always possible to prevent that from happening. Some diseases are transferred through the blood and are known as ‘genetic diseases’. ‘Sickle Cell’ disease is one such disease; it is a blood disorder passed along from a parent to the child.

What is Sickle Cell Disease?

This is a disease in which the person affected has abnormal haemoglobin levels. Haemoglobin is a protein that is present in the red blood cells that carries oxygen to the different parts of the body. People with this condition have sickle-shaped red blood cells. While normal blood cells are shaped like an “O” and are round, smooth and flexible, abnormal ones are shaped more like a “C” or a sickle and are known to clump together, blocking the flow of oxygen through the blood and causing tissue damage and a lot of pain. Sickle cell anaemia during pregnancy is dangerous as it can impact the flow of blood to the baby and result in his slow growth and development.

Who is More Likely to Get Affected By SCD?

Sickle cell disease (SCD) is an inherited disease. If both the parents or either of the two has this disease, the chances of this disease increase in the child. The sickle cell trait is helpful in giving protection against the parasite that causes malaria. It is known to affect people of African, Latin, Mediterranean, and Indian descent. Consult with a genetic counsellor to understand what the chances are of passing it to your baby.

Types of Sickle Cell Disease

Haemoglobin has two chains, the alpha and beta chains. There are four different types of sickle cell disease caused by the different mutations in these chains. Here are different types of sickle cell disease:

1. Haemoglobin SS Disease

This is the most common type of sickle cell disease and is also the most severe. Those with this type often suffer worse symptoms and at a higher rate than those with other types of sickle cell disease. A person gets this type when he or she inherits copies of the S haemoglobin genes from both the parents. The haemoglobin formed by this type of SCD is known as HbSS.

2. Haemoglobin SC Disease

This is the second most common type of SCD, and it happens when one inherits the haemoglobin (Hb) C gene from one parent and the haemoglobin S gene from the other parent. People with Hb SC experience similar symptoms to those suffering from Hb SS disease, but they are not quite so severe.

3. Haemoglobin SB+ (Beta) Thalassemia

This type affects the beta-globin gene production, where the red blood cell size is reduced because of the low beta protein production. If the Hb S gene is inherited along with the haemoglobin SB+ gene, then the person will get Haemoglobin S Beta Thalassemia.

4. Haemoglobin SB 0 (Beta-Zero) Thalassemia

Associated with a poorer prognosis, this type of SCD also involves the beta-globin gene. The symptoms experienced by patients suffering from Beta-Zero Thalassemia are similar to what the patient with HB SS experience, but can get severe.

Haemoglobin SD, SE, and SO are other types of sickle cell diseases that are rare and do not usually result in any severe symptoms. There are also those who inherit only one abnormal gene from one of the parents and a normal gene from the other. These people are more likely to have sickle cell trait, in which the symptoms are not there at all or are present but at a low intensity. A sickle cell trait pregnancy may result in urinary tract infections.

Signs and Symptoms

Those who have sickle cell disease may feel well at times and sometimes they may feel so sick that they will need to be taken to the hospital for a proper check-up. Not everyone will experience the same number of symptoms, often experiencing different degrees depending on the type of haemoglobin abnormality and their own individual conditions. Symptoms to look out for include:

1. Fatigue

Severe anaemia can make a person feel very tired and sometimes very irritable. Those babies who inherit sickle cell disease tend to be fussier than other babies.

2. Pain

The painful episodes are known as ‘Sickle Cell Crisis’, and it is the most common symptom faced by those with SCD. The pain occurs due to the abnormal blood cells that block the free and normal flow of the blood to different parts of the body. For some, the pain is extremely severe and can last even up to a week, for others it may not be as severe. The frequency of pain may also differ from person to person, some may experience it once in every few weeks, and some having one bad episode a year. The pain often affects a certain part of the body, for example, the arms and legs or perhaps hands and feet, which is experienced particularly in small children.

3. Fever

As SCD harms the spleen, it can make a person more prone to catching infections. Fever indicates an infection and should be taken seriously. Some of the infections that patients with an SCD may have are flu, pneumonia, meningitis, and acute chest syndrome, which is a lung condition.

How to Diagnose Sickle Cell Disease?

Sickle cell disease is often detected soon after birth or during pregnancy. This disease can be diagnosed with the help of a few tests, which you can go for at any time. They are as follows:

1. Tests for Parents

There are screening tests that can be done to check if parents carry the sickle cell trait. Parents can take a blood test or a swab of the inside of the mouth, where your healthcare provider gently rubs a cotton swab on the inside of your cheek to get the cells from there. Generally, it is better to get this screening done before ten weeks of pregnancy so that you have enough time to think about and consider your options about further tests if you do carry the trait.
Sickle cell disease or sickle cell trait runs in families, and so it is always best to take your medical history, and if possible, take your family’s health history with you so that the doctor can make a more accurate diagnosis.

2. Tests for Babies

If you or your partner have been diagnosed with sickle cell disease, you can always opt for a prenatal test to see if your baby has also inherited it.
The chronic villus sampling test can be done at 10 to 13 weeks of pregnancy. It checks the placenta tissue to see if there are any birth defects or genetic conditions present.
Another test called the amniocentesis, also known as amnio, checks for birth defects and genetic conditions by testing the amniotic fluid from the amniotic sac that surrounds your child. This test can be performed at 15 to 20 weeks of pregnancy.

How Does SCD Affect Pregnancy?

How sickle cell disease affects pregnancy depends on the mother. Most women who have sickle cell disease do not face much problem during pregnancy, but it can make the common problems faced by pregnant women more likely to happen. Sickle cell trait and pregnancy complications do not generally go hand in hand, but women with this problem are more likely to suffer from urinary tract infections. Here are some ways in which sickle cell disease can affect pregnancy:

1. Reduced Growth

Due to the abnormal cells blocking the proper flow of oxygen-filled blood, there will be a reduced amount of oxygen and nutrients delivered to the baby, slowing down the growth of the child.

2. Preterm Birth

Women who have SCD may experience a higher risk of going into premature labour and birth.

3. Deep Vein Thrombosis

Deep vein thrombosis (DVT) occurs when a blood clot forms in one or more deep veins of your body, particularly in legs. DVT Is extremely common in patients with SCD. One who has SCD may have blood clots in legs which cause pain, redness, and swelling in the calves.

4. Pulmonary Embolisms

SCD also leads to pulmonary embolism. The blood clots may travel from the legs and these blood clots form in the lungs, causing shortness of breath and chest pain.

5. Eye Complications

Sickle cell disease can cause complications in the eyes such as bleeding of the eyes and loss of vision.

6. Caesarean Section

Though most women with this disease have normal births, the risk of a caesarean section is increased.

7. Miscarriage

Women with a sickle cell disease have a far greater chance of having a miscarriage as the foetus does not get enough nutrients and oxygen in some cases.

How Does Pregnancy Affect Sickle Cell Disease?

For the proper growth of the baby, a woman’s body undergoes many changes during pregnancy. Your body will need to produce a lot more red blood cells, which means it needs to produce a lot more blood as this will be the main carrier of nutrients and oxygen to the child. For someone with sickle cell disease, this can be very demanding on the body as the disease is a blood disorder that involves abnormal red blood cells.

Sickle cell disease causes the red blood cells to break down a lot faster; normal red blood cells live for about 120 days, whereas abnormal ones as seen in the case of this disease live for only about 20 days.

Since the abnormal red blood cells cause blockage in the flow of blood, sickle cell crisis and pregnancy go hand in hand as the challenges of pregnancy often cause sickle cell disease to become worse. Pain episodes, also known as sickle cell crisis, may happen more often and they usually happen in the organs and joints of the patient. These issues can persist for a few hours or a few days, and sometimes they can even go on for a few weeks.

How to Treat SCD during Pregnancy?

Here is how sickle cell disease can be treated during pregnancy:

• Do not miss your doctor’s appointments. Regular prenatal care will make it easier for your doctor to monitor the disease as well as the health of the developing baby. Note that you will need to visit the doctor for more appointments than other pregnant women.

• For some women, it is necessary to have a blood transfusion to help reduce the number of sickle cells so that the blood can carry oxygen better. In these cases, the women will need to be screened for antibodies that the blood may carry as it could affect the baby.

• If your medication contains hydroxyurea, which is usually used to treat sickle cell disease, then you should talk to your doctor about changing it as it increases the chances of birth defects in your child.

• Due to dehydration and the fact that the blood has trouble transporting oxygen, you will most likely be provided with IV fluids as well as extra oxygen during labour in order to prevent any complications from arising.

How to Prevent Sickle Cell Disease in Pregnancy?

While you may not be able to cure sickle cell disease, there are certainly ways to prevent it from having any long-term impact. You and your partner should get yourselves tested for the sickle cell trait so that you can determine if your baby will have it.

You can also prevent sickle cell by taking good care of yourself. You should exercise regularly, follow a healthy and balanced diet and lead a stress-free life. Also, avoid travelling by plane or going anywhere that is at a high altitude as there is less oxygen at higher altitudes and those who have a problem with the disease already have trouble with their blood carrying enough oxygen. If you must travel by plane, ensure to let the airlines know and request extra oxygen to be provided for you.

How to Minimize The Risk of Sickle Cell Pain while Pregnant

Though there are many ways of managing the pain of sickle cell crisis, prevention is better than cure and doing your best to avoid any kind of episode is the way to go. Here are some tips that can help in the management of sickle cell disease in pregnancy:

• Whether or not you feel well, you should not skip your doctor’s appointments.
• Be careful to dress appropriately if you need to be in cold temperatures. Do not bathe in very hot or very cold water, instead keep the temperature moderate as extreme temperatures can trigger sickle cell crisis.
• Dehydration is a major problem with sickle cell disease, so make sure that you drink plenty of water.
• Ensure you are getting enough rest and avoiding stress.

Those women who have severe sickle cell disease will obviously worry how they will cope. But don’t panic. Talk to your doctor and get advice on what support services are available for someone with your condition.