Sickle Cell Anemia: Facts About This Genetic Disease

By | June 9, 2019

About 100,000 Americans today are struggling with sickle cell disease (SCD),1 a group of genetic disorders that causes the red blood cells to have an unusual shape. The severity of symptoms may vary, with some people experiencing only mild ones, and others requiring hospitalization to address serious complications.2

The most common type of SCD is sickle cell anemia. In children and young infants, SCD could be life-threatening because it exposes them to a higher risk of infections.3 This is why it’s crucial for the illness to be detected early, so sufficient proper preventive treatment can be employed to extend the child’s life span.

One thing you should know about this condition is that it is a genetic disease, so if both your parents or even just one of them, have this ailment you could be at risk. This page will give you helpful information about sickle cell anemia. Read up about this ailment so you’ll know the causes, risk factors and how to reduce your risk of this disease.

What Is Sickle Cell Anemia?

Sickle cell anemia is a mutation that mainly affects your hemoglobin, the protein in red blood cells that deliver oxygen to other cells throughout the body. Its primary telltale factor is that your red blood cells are distorted into a crescent shape — similar to a sickle. These unusually shaped hemoglobin molecules are called hemoglobin S,4 and are fragile and prone to rupturing, leading to anemia and poor oxygen circulation in the body.5

The discovery of sickle cell anemia can be traced to 1910, when Dr. James Herrick, a cardiologist, had a 20-year-old patient who was complaining of symptoms like pain and anemia. The patient, a dental student of African descent, had his blood checked under a microscope, where Herrick noted that the shape of his red blood cells was “very irregular.” They were “thin, elongated, sickle-shaped and crescent-shaped.”6

Herrick was unsure of whether the sickle-shaped cells were an indication of a “disease sui generis” — a disease of its own kind — or if it was a symptom of another disease.7 Over time, more researchers conducted numerous studies to further identify the mechanism by which this disease worked.8

Sickle cell anemia is just one of several types of sickle cell disease. It’s also called hemoglobin SS, since it indicates that a person has two hemoglobin S genes — one from their mother and the other from their father. If you are born with only one sickle cell gene, then you have what’s called sickle cell trait.9 The other types of SCD include:10

  • Hemoglobin Sβ0 thalassemia
  • Hemoglobin Sβ+ thalassemia
  • Hemoglobin SC
  • Hemoglobin SD
  • Hemoglobin SE
  • Hemoglobin SS

What Are the Symptoms of Sickle Cell Anemia?

Because of their abnormal shape, the red blood cells impair and block your blood flow circulation, resulting in lack of oxygen in your tissues. This is what causes symptoms to manifest. Some of the telltale signs and symptoms of sickle cell anemia are:11,12

  • Fatigue
  • Pain
  • Bacterial
  • Leg ulcers
  • Bacterial Infections
  • Swelling of the hands and feet (Dactylitis)
  • Delayed growth in children
  • Arthritis
  • Aseptic necrosis and bone death
  • Eye damage
  • Injury of the lung and heart
  • Pooling of blood in the spleen
  • Liver congestion

Sickle cell anemia in children may be noticeable during their first year of life, with fever, dactylitis, pneumococcal infections and abdominal pain being the most common symptoms.

However, these symptoms do not occur during their first months, as the fetal hemoglobin protects the baby’s red blood cells from turning into sickles. But because this fetal hemoglobin is no longer present in the red blood cells that are made by the body after birth, the cells start sickling by 5 months of age, and symptoms will then manifest.13

In the United States, a sickle cell anemia diagnosis can be made after childbirth, where it is part of the routine newborn screening. A blood test can check for hemoglobin S. Older children and adults may undergo this test as well.14

What Causes Sickle Cell Anemia?

Sickle cell diseases like sickle cell anemia are not contagious15 — it cannot be passed on from one individual to another through physical exposure. Rather, this is a genetic condition that you inherit from both your parents.

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A person who has the faulty gene but does not have the disease are called sickle cell carriers, also known as having the sickle cell trait. They do not suffer from the condition, but there’s a high change that they could give birth to an individual with the disease if their partner is also a sickle cell carrier.  

If both your parents are sickle cell carriers, and they both pass the faulty gene to you, then you’re at risk of having some sort of sickle cell disease. According to NHS Choices, if both your parents are sickle cell carriers, you:16

Have a 25% chance of not inheriting any faulty genes and not having the disease

Have a 50% chance of only inheriting a copy of the faulty gene from one parent, thus becoming a sickle cell carrier as well

Have a 25% chance of inheriting both copies of the faulty gene and being born with sickle cell disease 

Although SCD can occur in almost anyone, there are certain groups that are at a higher risk of developing this illness, such as those of African, Caribbean17 and Hispanic descent. One out of every 365 African or African-American babies born have sickle cell disease, and 1 in 13 African-American babies is a sickle cell carrier.18

Sickle Cell Anemia Life Span: What’s the Life Expectancy for This Illness?

Today, people with sickle cell anemia have a significantly better life expectancy compared to several decades ago. In the 1960s, Sir John Dacie, a British hematologist, described it as a “disease of childhood.”19

Very few patients reach adulthood, despite the high standard of medical care. In a 1973 review, it was found that the estimated median of survival was 14.3 years. It is said that of the deaths occurred during the first two years of life, 30% before patients turn 5 years old, and 50% between 5% and 30 years old.20

Over time, life expectancy of those affected significantly improved. in a 1994 study published in The New England Journal of Medicine, researchers followed over 3,000 sickle cell disease patients and found that half of the them survived past 50 years old. Among children and adults with sickle cell anemia, the median age of death was 42 years for men and 48 years for women. The median age for those with sickle cell hemoglobin C disease is 68 years old for women and 60 years old for males.21

Sickle Cell Anemia Treatment: What Are Your Options?

Being a genetic condition, sickle cell anemia is a lifelong disease. Managing this ailment focuses on easing the symptoms, avoiding sickle cell crises (pain that may last for hours or days22) and preventing complications from arising.23

Conventional medications for sickle cell anemia include painkillers to ease pain during sickle cell crises and antibiotics to avoid infections. However, remember that these medications may come with risky effects. A medicine called hydroxyurea has also been prescribed to decrease several complications of sickle cell anemia,24 but there are concerns about its potential toxicity and carcinogenic effects.25

For example, antibiotics, which are prescribed to reduce the risk of infections,26 may contribute to antibiotic resistance and also impair the gut. If you absolutely have no choice but to take antibiotics, then I advise taking a spore-based probiotic supplement. Since they do not contain any live Bacillus strains, only its spores, antibiotics will not affect them, so they may help reestablish your microbiome.

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The opioids27 that are prescribed for the pain are also problematic, as they contribute to the opioid epidemic, which is responsible for the rising cases of addiction today. Hence, it’s best that you opt for safer, nondrug pain relievers instead.

Bone Marrow Transplant for Sickle Cell Anemia

Since the bone marrow is responsible for producing the red blood cells that have the hemoglobin S,28 replacing it with a new one will allow the body to stop making the sickle-shaped cells. Transplant is the only successful treatment for sickle cell anemia, but it’s not done frequently because of the potential risks.

The primary process will involve taking healthy stem cells from the donor’s bone marrow and then injecting them into your body through your veins. The cells will then go to your bone marrow where they will produce new healthy blood cells. However, preparation for the transplant is a tedious process that can take several weeks. You will need to undergo chemotherapy and possibly even radiation therapy to weaken and destroy the cells that produce the sickle-shaped cells.

You will be under observation after the procedure, and once your doctor confirms the success of the transplant, you will be allowed to go home. Your blood cells and immune system will return to normal in six to 12 months’ time. Until then, your health should be closely monitored.29

Blood Transfusions

To relieve anemia, you may need to undergo blood transfusions. This is simply having donated blood given to you intravenously to boost the amount of red blood cells in circulation. Children who may have a high risk of stroke because of this condition may benefit from regular blood transfusions. However, this treatment may carry some risk, such as infection and excess iron buildup.30

Herbal Remedies May Potentially Help With Sickle Cell Anemia

Sickle cell anemia has been prevalent in places like West Africa for ages, but instead of conventional medicine, those affected turn to natural remedies to deal with this ailment. A 2012 paper closely looked at the antisickling herbal remedies that African natives used to help with this ailment. Four of these were used to develop a dried extract, namely:31

Clove (Eugenia caryophyllata)

Piper guineense, a West African species of piper

Sorghum (Sorghum bicolor)

Pterocarpus osun, also known as black camwood

The herbal medicine was called Niprisan, and has been used in Nigeria for treating sickle cell disease patients. It was formally approved for use in that country as a sickle cell anemia medication since 2006. The study also noted other herbs that may potentially have antisickling properties, such as:

  • Garlic
  • Papaya (Carica papaya)
  • Senegal prickly-ash (Fagara zanthoxyloides)
  • Hymenocardia acida
  • Pigeon pea (Cajanus cajan)
  • African mahogany (Khaya senegalensis)

The researchers said that their study “raised the hope that the search in the Tropics for more effective herbal recipes for managing sickle cell anemia will be more fruitful with time and effort.”32

Sickle Cell Anemia Prevention: 6 Tips to Avoid a Crisis

The painful episodes that occur when you have sickle cell anemia are called sickle cell crises. This occurs when the abnormally shaped red blood cells cause a blockage in the small blood vessels that bring blood to your bones.

The pain can affect your chest, stomach, legs, arms, knees and your back. It can be sharp and throbbing, a dull ache or a stabbing sensation. The intensity and frequency can vary from one person to another.33 If you’re prone to sickle cell crises, there are a few natural ways to help keep them from occurring:34,35,36

Reduce or avoid stress. Consult with a doctor if you have work or family problems or if you’re depressed.

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Drink sufficient amounts of water per day, especially during warm weather. Dehydration can increase your sickle cell crisis risk.

Exercise regularly, but pace yourself so you do not become overfatigued. Drink lots of fluid to replenish the lost liquids.

Avoid swimming in cold water.

Dress yourself in warm clothing during cold weather. If you’re in an air-conditioned room, bundle up as well.

Don’t drink alcohol. You should refrain from smoking as well because it can trigger your risk of acute chest syndrome.37

Sickle Cell Anemia Diet

As with most diseases, nutrition plays a significant part in dealing with sickle cell anemia. Make sure that you consume a well-balanced diet that’s mainly composed of wholesome foods like fruits and vegetables, along with healthy fats and moderate amounts of protein. Drink plenty of water as well — as mentioned, sickle cell crisis can intensify when you’re dehydrated.

A 2010 study38 looked at the nutritional profile of sickle cell anemia patients, and noted that the recommended dietary allowances (RDAs) that the general population follows are insufficient for people dealing with this genetic disease. This includes micronutrients, such as vitamin D deficiency, which is associated with bone disease — a potential complication of sickle cell anemia. Some of the micronutrient deficiencies seen in sickle cell anemia patients include:

Iron — Reports from Nigeria and India39 noted that 36% to 67% of patients they studied had low iron stores in the bone marrow.

Zinc — Inadequate levels of this nutrient have been linked to immune dysfunction, poor wound healing, abnormal or delayed sexual maturation and having abnormal growth patterns.40

Magnesium Low levels of this nutrient have been linked to increased sickling.41

The researchers concluded:

“[A] prudent approach at this time would be to ultimately consider a combination of nutrients that could achieve optimal nutritional and immune status for disease prevention and to reduce morbidity and mortality in HbSS patients.

This approach is likely to provide an effective and ultimately affordable intervention, albeit challenging. There will also be a need to determine specific recommended dietary allowances (RDAs) for this group of individuals, just as special RDAs are set to cover the increased demands for extra nutrients during pregnancy.”42

Frequently Asked Questions About Sickle Cell Anemia

Q: What type of mutation causes sickle cell anemia?

A: Sickle cell anemia occurs when a person has a mutated version of the gene that helps make hemoglobin — this is the protein that brings oxygen to red blood cells.43

Q: How is sickle cell anemia inherited?

A: If both your parents are sickle cell carriers, meaning they have the sickle cell trait, and they both pass the faulty gene onto you, then you’re at risk of having some sort of sickle cell disease.

Q: Who gets sickle cell anemia?

A: Anyone can be diagnosed with sickle cell anemia, but certain groups like Africans, African-Americans, and Hispanics are at a higher risk of getting it.

Q: How is sickle cell anemia diagnosed?

A: To check for hemoglobin S, or the mutated form of hemoglobin, you need to have a blood test. This is part of routine newborn screening done in most U.S. hospitals.

Q: How common is sickle cell anemia?

A: In the U.S. today, at least 100,000 people are diagnosed with sickle cell anemia.44