Sickle Cell Anemia: Causes, Symptoms, Diagnosis And Treatment!

World Sickle Cell Anemia Day is observed on June 19^th of every year. This day is dedicated to raising awareness about sickle cell anemia and sickle cell disease.¹ Sickle cell disease is a group of “red blood cells” genetic disorders that impacts the hemoglobin, an “oxygen carrying protein” (found in RBCs).^2,3  It’s estimated that sickle cell disease affects around 20 million people worldwide.⁴ 

Sickle cell anemia is a type of blood disorder that falls under sickle cell diseases.⁵

Additionally, there are around 300 million people in the world who are estimated to have sickle cell trait.⁶ Having a sickle cell trait doesn’t necessarily mean that the individual who has it has sickle cell anemia (or sickle cell disease). But having said that there is a possibility that  if someone has sickle cell trait there’s a high chance that their children may also inherit it.⁷

In this blog, we’ll discuss the causes, symptoms, diagnosis, and treatment for sickle cell anemia.

What Is Sickle Cell Anemia?

As mentioned earlier, sickle cell anemia is a kind of sickle cell disease, in which the shape of red blood cells cells get affected.⁵  Red blood cells (RBCs) are found in the blood and bone marrow of humans and their basic function is to carry oxygen throughout the body.⁸ 

Usually, RBCs are disc-shaped and can easily flow through the bloodstream. Nevertheless, in people with sickle cell anemia, the red blood cells are shaped like a crescent moon, or sickle. These sickle- shaped cells are unable to carry oxygen as efficiently as normal red blood cells, and they can also slow down the blood flow or block blood vessels.^5,9

Sickle Cell Anemia: Causes

Before taking a look at sickle cell anemia, we need to understand how sickle cell disease occurs. 

As we have already learned, red blood cells (RBCs) play a crucial role in carrying oxygen throughout the body. But how do they accomplish this task? They do that with the help of a protein called hemoglobin. Now, hemoglobin is composed of two subunits of beta-globin and two subunits of alpha-globin. The gene responsible for the production of beta-globin is HBB. Mutations taking place in the HBB gene can give rise to various versions of beta-globin. A particular mutation produces an abnormal version of beta-globin known as hemoglobin S (HbS). Other mutations in the HBB gene can also result in diverse beta-globins, such as  HbC (hemoglobin C) and HbE (hemoglobin E). HBB gene mutations are also known to cause extremely low beta-globin levels which develops a disorder known as beta thalassemia.¹⁰

People with sickle cell disease have at least one of their beta-hemoglobin subunits (in hemoglobin) mutated into hemoglobin S (HbS). However, individuals with sickle cell anemia have both of their beta-hemoglobin subunits substituted by mutated hemoglobin S (HbS).¹⁰ 

In simpler words,  sickle cell anemia is caused due to mutations in the HBB gene, which triggers the production of hemoglobin.¹⁰

Moreover, a child can also have sickle cell anemia if both of his/her parents have sickle cell trait.⁴ 

Sickle Cell Anemia: Symptoms

A person with sickle cell may develop symptoms as early as 6 months of age, though it may vary from person to person. Let’s take a look at some common signs and symptoms of sickle cell anemia:⁴

• Anemia: Due to the “sickle shape” of red blood cells, they tend to die in 10-20 days, whereas healthy red blood cells stay alive for 90-120 days. This is because the sickle shape makes the cells more fragile and prone to breaking apart. When this happens, the body does not have enough healthy red blood cells to carry oxygen to the body’s tissues, which can lead to low oxygen levels. Consecutively, the absence of oxygen-rich blood in the body gives rise to anemia.
• Inflammation: Since sickle cells tend to block blood vessels it sometimes may even result in swelling of hands and feet.
• Late onset of puberty & slow growth: As RBCs enrich the body with oxygen its limitation results in slow growth in children/ babies and may cause delayed puberty in teens.
• Painful bouts: People with sickle cell anemia often experience periodic episodes of severe pain, known as pain crises. These pain crises are caused when sickle-shaped red blood cells block blood flow to the chest, abdomen, and joints. In addition to pain crises, some adolescents and adults with sickle cell anemia may also experience chronic pain. This chronic pain can be caused by bone and joint damage, ulcers, and other complications caused by the disease.
• Susceptible to infections: Sickle cells can damage the spleen, which is an organ that helps the body fight infections. As a result, people with sickle cell anemia tend to develop infections often. Infants and children with sickle cell anemia are generally given vaccinations and antibiotics to help prevent potentially life-threatening infections, such as pneumonia.
• Visual impairment: Sickle cells can clog tiny blood arteries that supply the eyes. This can harm the retina (part of the eye that interprets visual images) and cause visual impairment.

What Are The Complications Of This Condition?

Sickle cell anemia can lead to several complications over time, including:

• Organ damage: Repeat blockages in blood vessels can damage organs such as the liver, kidneys, and heart.
• Stroke: Reduced blood flow to the brain increases the risk of stroke.
• Pulmonary hypertension: Blockages in blood vessels can elevate blood pressure in the lungs, causing breathlessness and fatigue.
• Leg ulcers: Poor blood flow may result in non-healing wounds on the legs.
• Gallstones: High levels of broken-down red blood cells can lead to the formation of gallstones.

Can Sickle Cell Anemia Be Prevented?

According to research published on NCBI, sickle cell anemia cannot be entirely prevented, as it is a genetic disorder inherited when both parents pass on the sickle cell gene. However, genetic counseling and testing can play a crucial role in reducing the risk of passing the condition to offspring. Couples with a family history of sickle cell disease or who are carriers of the sickle cell gene (sickle cell trait) can undergo genetic testing to assess their risk. Prenatal diagnostic techniques, such as amniocentesis or chorionic villus sampling (CVS), can also detect the condition early during pregnancy. These interventions enable informed decision-making and early preparedness for the management of the condition.

What Can I Expect If I Have Sickle Cell Anemia?

Living with sickle cell anemia requires constant medical attention and lifestyle changes. Regular check-ups, medications to control symptoms, and measures to prevent infections are essential components of a comprehensive care plan. Current research continually presents new hope for its better management and eventual cures in the future. By working closely with healthcare providers, patients can minimize complications and lead fulfilling lives.

Does Sickle Cell Anemia Get Worse With Age?

The complications of sickle cell anemia can worsen over time if not managed properly. Older individuals may face increased risks of organ damage, chronic pain, and other health issues. However, proactive treatment and regular monitoring can help mitigate these risks and slow disease progression.¹³

What Is The Life Expectancy For Someone Who Has Sickle Cell Anemia?
Thanks to medical advancements, the life expectancy of individuals with sickle cell anemia has improved significantly. On average, people with this condition can live up to their 40s or 50s, with some living even longer. Early diagnosis, effective treatment, and comprehensive care play vital roles in extending life expectancy and enhancing quality of life.

What Is The Life Expectancy For Someone Who Has Sickle Cell Anemia?

Thanks to medical advancements, the life expectancy of individuals with sickle cell anemia has improved significantly. On average, people with this condition can live up to their 40s or 50s, with some living even longer. Early diagnosis, effective treatment, and comprehensive care play vital roles in extending life expectancy and enhancing quality of life.

Sickle Cell Anemia: Diagnosis

To diagnose sickle cell anemia a blood sample is taken from the patient. Doctors may use a technique called hemoglobin electrophoresis or high-performance liquid chromatography (HPLC) to identify and measure different types of hemoglobin in red blood cells. This test can also detect the abnormal hemoglobin that causes sickle cell anemia.¹¹

Sickle Cell Anemia: Treatment

Various treatments are available to alleviate the symptoms of sickle cell anemia, including medications that address painful episodes, swelling, and joint pain. 

However, a ray of hope shines through as advancements in medical science have introduced a promising avenue for sickle cell anemia treatment—stem cells. Let’s learn more about it.

How Sickle Cell Anemia Can Be Treated With Stem Cells?

Stem cells are specialized cells that can differentiate into a variety of cell types throughout the body.¹² They are capable of regenerating cells in your brain, blood, liver, and heart muscle.¹³

To treat a person with sickle cell anemia, a stem cell transplant may be required. In this procedure, stem cells are taken from a healthy donor and transplanted to the patient. The stem cells then travel to the patient’s bone marrow and begin to produce new blood cells.^14,15

However, not everyone has a matching donor in their family. In such cases, LifeCell’s Community Cord Blood Banking can come to the rescue. Community Cord Blood Banking allows families to store their baby’s umbilical cord blood stem cells in a shared pool. These stem cells can then be used to help other people who need a stem cell transplant. 

Opting for community cord blood banking not only allows you to preserve your newborn's precious stem cells, which can potentially save them from more than 90 life-threatening medical conditions. But it also provides protection for the entire family, including siblings, parents, and grandparents of the baby!

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Parting Thoughts!

Despite the challenges, there’s a silver lining for people with sickle cell anemia. Increasing awareness and advancements in medical science are leading to new treatments and improved quality of life. Moreover, from “World Sickle Cell Anemia Day” to stem cell transplantation, there are many efforts underway to improve the lives of those affected by this condition.

It is crucial for individuals, communities, and healthcare professionals to come together to raise awareness, support research, and provide better care for people with sickle cell anemia. By understanding the disease, promoting early diagnosis, and embracing the potential of innovative treatments, we can strive towards a future where people with sickle cell anemia can lead fulfilling lives.