Sickle Cell Disease

What is sickle cell disease? 

Sickle cell disease (sickle cell anemia) is a red blood cell disorder passed down from parents to children. People with sickle cell disease have sickle shaped red blood cells because of an abnormality in their hemoglobin. Hemoglobin is a protein in red blood cells that helps them carry oxygen. The sickle shaped red blood cells tend to get stuck in smaller blood vessels and cause blockages in the vessel, which stops oxygen from getting to where it is needed.’

Symptoms of sickle cell disease include severe abdominal and bone pain, joint swelling pain, anemia, organ damage, infections, severe respiratory infection, and vaso occlusive episodes. Vaso occlusive episodes happen when organs do not receive enough oxygen and result in severe pain, and potential damage. Sickle cell disease does not currently have a cure. However, the disease can be managed by patients, their families, and healthcare providers with proper education and training. 

Sickle cell disease affects millions of people throughout the world. It is particularly common among people with African ancestry as well as Mediterranean, Caribbean, South and Central American, Arab, and East Indian ancestry.  

Diagnosing sickle cell disease is relatively simple - it can be detected with a blood test. It is sometimes diagnosed before birth or at birth during routine newborn screening tests. Children with sickle cell disease are considered to be at high risk for getting infections and other health problems, which makes early diagnosis and treatment so important. 

There are different types of sickle cell disease, including Sickle Cell Anemia (HbSS), Sickle Hemoglobin C Disease (HbSC), and Sickle Beta Thalassemia (HbS/B+). There is also Sickle Trait (HbAS), which happens when a person inherits only one copy of the mutated hemoglobin gene from a parent. They may not have any symptoms or reduced symptoms. 

If you plan on getting pregnant what should you know? 

If you have sickle cell disease and plan on becoming pregnant, speak to your healthcare provider to learn more about which therapies you may continue and discontinue (e.g. hydroxyurea, chelation therapy). There is no one size approach for pregnancy with sickle cell disease, which is why it is important to create a plan designed for you with your healthcare team. 

Since sickle cell disease is inherited from parents, people who are planning to become parents should know whether they are carriers of sickle cell hemoglobin genes. Understanding your status can help you plan your pregnancy and be prepared for any issues that may arise during pregnancy. It can also help you learn if your future child may be at risk of having sickle cell disease or trait through prenatal testing. If you have sickle cell disease, it is important to know which type you have to help design your healthcare plan for pregnancy and post-partum.

Pregnancy stresses your body and can increase the likelihood and frequency of vaso occlusive episodes. Pregnancy with sickle cell disease may also increase risk of miscarriage, pregnancy-induced hypertension (a type of high blood pressure), premature birth, newborn growth problems, and maternal death.  However, these complications can be avoided and you can have a safe and healthy pregnancy with sickle cell disease by working with your healthcare team. 

Women with sickle cell disease can sometimes have trouble conceiving. They may have trouble because of lower levels of certain hormones that are involved in ovulation (releasing the egg from the ovary) (follicle stimulating hormone and luteinizing hormone and estrogen), sickling of red blood cells around the ovaries, iron overload causing endocrine dysfunction, or because of non-steroidal anti-inflammatories (NSAIDs), used to manage sickle cell disease. However, many women with sickle cell disease become pregnant and carry safe and healthy pregnancies.

Pregnancy with sickle cell disease

If you are pregnant and have sickle cell disease, you will have more frequent medical visits during pregnancy, and with a healthcare provider who is experienced with sickle cell disease. You may be given certain vitamins and iron supplements, and in some cases you may need blood transfusion. 

The effect of sickle cell disease during pregnancy depends on whether you have sickle cell disease or the sickle cell trait. Some women with sickle cell disease have no change in their disease during pregnancy.  While others may get worse. Pregnancy can worsen anemia, so pregnant women with sickle cell disease may need regular blood transfusions throughout their pregnancy. Other sickle cell disease complications such as painful crises, acute chest syndrome, pulmonary embolism, strokes, hematologic complications, and infections will need planning ahead of pregnancy or early in pregnancy in the event that pregnancy worsens them. 

Women with sickle cell trait may have a lot of urinary tract infections during pregnancy. Pregnant women with sickle cell trait can also have a kind of anemia caused by not having enough iron in their blood.  If you have this type of anemia, you may need to take iron supplements. It is important for blood cells to be able to carry oxygen especially when pregnant. 

If you have sickle cell disease it should not affect your ability to deliver vaginally, you may require a caesarean delivery due to certain complications, otherwise you should be able to deliver vaginally.

For the baby, complications of sickle cell disease may include: