Sickle Cell Anaemia: Definition, Symptoms, Causes, Treatment

Sickle cell anaemia is an example of sickle cell disease (a group of diseases affecting haemoglobin). It is an inherited disorder of the red blood cells (RBCs). RBCs are normally shaped like round discs that allow them the flexibility to travel through the smallest of blood vessels. 

However, sickle cell anaemia affects the shape of the RBCs, turning them into stiff, sticky, rigid crescent-shaped cells. This makes these cells prone to getting trapped in blood vessels, blocking blood from reaching different body parts. 

Crescent-shaped sickle cells do not live as long as healthy red blood cells. As a result, people with these abnormal cells may not have the required normal red blood cells and develop anaemia.

There are four primary types of sickle cell anaemia caused by different mutations in the haemoglobin genes. These types include:

1. Haemoglobin SS Disease (HbSS): This is the most common and severe type of sickle cell anaemia. In individuals with HbSS, both copies of the haemoglobin gene have the sickle cell mutation, one inherited from each parent, producing abnormal haemoglobin S.

2. Haemoglobin SC Disease (HbSC): This type of sickle cell anaemia occurs when one copy of the inherited haemoglobin gene has the sickle cell mutation (HbS), and the other copy has a different mutation called haemoglobin C (HbC). HbSC is generally milder than HbSS.

3. Haemoglobin SB+ (beta) Thalassemia: HbS beta-thalassemia affects the production of the beta-globin gene. The reduction in beta protein production reduces the size of the red blood cell. In this disease, a person inherits a sickle cell gene from one parent and a beta-thalassemia gene from the other. 

4. Haemoglobin SB 0 (beta-zero) Thalassemia: Like HbS beta-thalassemia, beta-zero thalassemia also involves the beta-globin gene. The disease may show similar symptoms to HbSS anaemia. However, they are usually more severe, and the prognosis is poorer.

Other types of sickle cell anaemia may include:

1. Haemoglobin SD, SE, and SO: These types are usually rare and do not show severe symptoms.

2. Sickle Cell Trait: If a person inherits only a single sickle cell gene from one parent, they have a sickle cell trait. They will not have sickle cell anaemia but can pass that gene to their children. 

Sickle cell anaemia symptoms usually start around 5 to 6 months of age. Different people may experience varying symptoms. Moreover, the symptoms can change over time. The symptoms of sickle cell anaemia may include:

1. Periodic Episodes of Pain: One of the primary sickle cell anaemia symptoms is episodes of extreme pain, known as pain crises. 

1. Patients experience pain when sickle red blood cells block the blood vessels and the blood flow to the chest, abdomen, and joints. 

2. Pain duration and intensity can vary, lasting from a few hours to a few days. While some people may experience only a few pain crises throughout the year, others may have dozens or more. 

2. Anaemia: Normal red blood cells typically live for about 120 days before they need replacement. However, sickle cells break easily and die in about 10 to 20 days, causing a shortage of red blood cells (anaemia). 

1. People with sickle cell anaemia can have mild, moderate or severe anaemia. Without healthy red blood cells, the body is unable to get enough oxygen, causing symptoms such as:

1. Fatigue

2. Trouble breathing

3. Skin colour that’s more pale than normal

2. Additional symptoms of anaemia in babies may include being unusually fussy or irritable.

3. Slow Growth or Delayed Puberty: The body gets the oxygen and nutrients for growth from red blood cells. 

1. Without enough healthy red blood cells, infants may experience slow growth compared to other children of the same age. 

2. Moreover, teenagers may hit puberty later than children their age. 

4. Frequent Infections: Sickle cells can cause damage to the spleen, making people more prone to infections. 

1. Infants and children with this disease are given antibiotics and vaccinations to prevent their risk of developing life-threatening infections like pneumonia. 

5. Swelling in Hands and Feet: When sickle-shaped blood cells block blood circulation in the hands and feet, it may result in swelling. 

6. Vision Problems: Sickle cells can block the tiny blood vessels that supply blood to a person’s eyes. This can damage the retina (the part of the eye that processes visual images), causing vision problems. 

7. Jaundice: Jaundice, or yellowing of the skin and eyes, is a common early symptom of sickle cell anaemia. It occurs when sickle cells die faster than the liver can filter them out. 

1. Bilirubin (causing the yellow colour) from these damaged cells builds up in the body’s system, leading to jaundice.

Sickle cell anaemia is caused by a specific genetic mutation in the haemoglobin gene (a gene that instructs the body to make the iron-rich compound in the red blood cells). The mutation causes the production of abnormal haemoglobin, known as haemoglobin S. 

1. Inheritance of two copies of this mutated gene, one from each parent, is necessary for an individual to develop sickle cell anaemia. 

2. The presence of just one copy of the mutated gene can cause people to have the sickle cell trait. This means they are the carriers of the condition, who typically do not experience symptoms but can pass on the sickle gene to their children.

This can be better comprehended with the help of the following pedigree chart of sickle cell anaemia:

Sickle Cell Anaemia Risk Factors

The primary risk factor for a baby to be born with sickle cell anaemia is for both parents to carry the sickle cell gene. 

1. If both parents have sickle cell trait or have sickle cell anaemia themselves, there is a 25% chance of their children inheriting the disorder. 

2. If one of the parents has a sickle cell trait, the child would not have sickle cell anaemia, but there is a 50% chance of them being born with a sickle cell trait.  

Other risk factors include belonging to populations with a higher prevalence of sickle cell anaemia. This includes people from:

1. India

2. Africa

3. Mediterranean

4. Saudi Arabia

Since sickle cell anaemia is due to genetics, there is no method of preventing the disease. However, parents can take certain preventive measures to reduce the risk of passing on the sickle cell gene to future generations: 

1. If the parents are screened and found to carry the gene, a genetic counsellor may help understand the baby’s risk of sickle cell anaemia. If having a biological child is not the right choice, they may guide the parents through other options like adoption. 

2. If the parents want their own baby, they can consider assisted reproductive techniques such as in vitro fertilisation (IVF). The technique involves fertilising eggs or embryos in a laboratory and screening them for the presence of the sickle cell gene before implantation.

Sickle cell anaemia diagnosis may be done by taking blood samples. Healthcare professionals use a technique called haemoglobin electrophoresis. An electric current is applied to the blood sample to separate normal and abnormal types of haemoglobin. 

The technique measures different types of haemoglobin in a patient’s red blood cells, including the abnormal haemoglobin that leads to sickle cell anaemia. 

1. In adults, the blood is collected from a vein in the arm. 

2. Blood tests for sickle cell anaemia can be a part of the routine newborn screening. Blood is drawn from a finger or heel for babies and young children.

If the child or parent has sickle cell anaemia, the doctor may recommend other tests to check the possibility of complications, like stroke. Sickle cell genes can also be detected before birth. 

1. Ultrasound for Stroke Risk: Healthcare providers use a special ultrasound machine that uses sound waves to measure blood flow in the brain and detect if the child has a higher risk of stroke. 

1. The test is painless and safe, making it useful for children as young as two years old. 

2. Prenatal Screening: Sickle cell anaemia can be diagnosed before the baby is born. 

1. Healthcare providers take a sample from the biological mother’s amniotic fluid (fluid surrounding the baby in the womb) or tissue from her placenta (an organ located in the uterus that delivers oxygen and nutrients to the developing foetus). 

2. They examine the samples for signs of the sickle haemoglobin gene, which causes sickle cell anaemia. 

How to Prepare for Doctor Consultation?

Sickle cell anaemia is typically diagnosed through newborn genetic screening by a family doctor or paediatrician. 

They will refer the patient or the parents of the patient to a haematologist or paediatric haemotologist (a doctor specialising in blood disorders). The following is how patients can help prepare for the appointment:

1. Write down symptoms, including their frequency, duration, and any triggers.

2. Compile personal and medical information, including previous test results, hospitalisations, medication history, and sickle cell anaemia family history.

3. Enlist all medications, including over-the-counter drugs and supplements, with their dosage and frequency. 

4. Write questions for the doctor, including queries about treatment options, potential complications, lifestyle modifications, and effective management of symptoms.

5. Take a friend or family member for emotional support and to help remember information. 

What to Expect from the Doctor?

During a consultation appointment for sickle cell anaemia, the doctor may ask various questions to understand the patient’s condition better and develop an appropriate treatment plan.

Some common questions the doctor may ask include:

1. When did you start noticing your child’s symptoms?

2. Are the symptoms continuous or occasional?

3. Does anything seem to improve or worsen the symptoms?

4. Do you or your partner have sickle cell anaemia?

What Questions to Ask the Doctor?

During a consultation appointment for sickle cell anaemia, individuals must ask questions to gather information and clarify doubts. Questions that patients can ask their healthcare provider include:

1. What is the cause of my child’s symptoms?

2. What tests are needed for diagnosis?

3. Which sickle cell anaemia treatment options are available? Which one do you recommend?

4. What are the treatment side effects?

5. What complications and symptoms should I look out for?

6. How can I manage and prevent pain crises associated with sickle cell anaemia?

7. Are there any lifestyle modifications or dietary recommendations to follow?

8. Are there any clinical trials to consider?

9. What is my child’s prognosis?

The patient should not hesitate to ask further questions about their concerns and needs.

Sickle cell anaemia treatment focuses on managing symptoms, preventing complications, and improving the overall quality of life. Currently, an allogeneic stem cell transplant (using healthy stem cells from a donor for transplant) is the only way to cure sickle cell anaemia. 

Other treatments may include blood transfusions, antibiotics to treat infections, and medications to manage symptoms. 

Lifestyle Modifications and Home Remedies

Certain home remedies and lifestyle modifications can help manage sickle cell anaemia, avoid complications, and improve quality of life. These remedies should complement medical treatments and not replace them. They include:

1. Drink Plenty of Water: Adequate hydration is important to prevent dehydration, which can trigger sickle cell crises. Drink lots of fluids, especially water (at least eight glasses daily), throughout the day.

2. Take Folic Acid Supplements: A person’s bone marrow needs folic acid and other vitamins to make new red blood cells. Individuals should consult their doctor about taking folic acid supplements and other vitamins. 

3. Eat a Healthy Diet: Follow a well-balanced diet rich in colourful fruits, vegetables, and whole grains.

4. Avoid Extreme Temperatures: Intense cold or heat can increase the risk of acute pain crises. Therefore, one must maintain a balanced body temperature. 

5. Engage in Regular Exercise: Exercise helps boost mood and improve overall health. However, it is crucial not to overdo it and talk to a healthcare provider about how much exercise is right for a person. 

6. Take Non-Prescription Medications with Caution: Pain medications like ibuprofen and naproxen sodium should be used cautiously due to their possible side effect on kidneys. Patients should consult their doctor before taking nonprescription medications. 

7. Get Support: Seek emotional support from friends, family, support groups, or professional counselling to manage the emotional challenges of living with sickle cell anaemia. 

8. Don’t Smoke: Smoking can increase a person’s risk of pain crises. So if a person with sickle cell anaemia smokes, they should quit smoking. 

9. Find Clinical Trials: Researchers constantly test new treatments for the disease, allowing patients to obtain new medications and treatments. Individuals can consult their healthcare providers to find a clinical trial.

Please Note: The selection of the treatment approach is based on the patient’s health condition and the treating doctor’s opinion. 

Medications

Healthcare providers may prescribe medications to reduce symptoms caused by sickle cell anaemia complications. These medications include:

1. Hydroxyurea: It is an anticancer drug now used for sickle cell anaemia treatment. The medicine has been shown to:

1. Reduce the frequency of pain crises

2. Reduce the need for blood transfusion

3. Decrease the chances of acute chest syndrome by 50%

4. Improve the symptoms of anaemia

5. However, hydroxyurea can increase the risk of infections. Pregnant women should not take this medicine. 

2. L-Glutamine Oral Powder: The formation of sickle cells occurs gradually over a period of time. This FDA-approved drug helps protect sickle cells from becoming more misshapen. Furthermore, it helps reduce the frequency of pain crises. 

3. Voxelotor: The drug treats sickle cell anaemia in children aged four and older. 

1. Taken orally, the medicine prevents red blood cells with abnormal haemoglobin from becoming sickle cells. 

2. It may reduce the risk of anaemia (by preventing red blood cells from being destroyed faster than the bone marrow can replace them) and improve blood flow throughout the body. 

4. Crizanlizamub: This is an FDA-approved drug given by injection to treat people aged 16 and older. The medicine reduces the frequency of pain crises.   

5. Pain-Relieving Medications: The doctor may prescribe pain-relieving medications like narcotics to help relieve pain during pain crises. 

Please Note: It is always recommended to consult a doctor before deciding which medications work well for someone.

Infection Prevention

The doctor may prescribe antibiotics or vaccinations for children and adults with sickle cell anaemia to prevent complications caused by infections. 

1. Antibiotics: Children with the disease may receive penicillin from about two months to at least five years to prevent infections like pneumonia which can be life-threatening. 

1. Adults with sickle cell anaemia may need to take penicillin throughout their lives if they have had pneumonia or spleen removal surgery in the past. 

2. Vaccinations: Childhood vaccinations are important for all children. Vaccinations become even more important in children with sickle cell anaemia since the infections can be severe. 

1. Children should get all recommended childhood vaccines and vaccines against infections like pneumonia, hepatitis B, meningitis, and annual flu shot.  

Surgery and Other Procedures

Other procedures that may be used for sickle cell anaemia treatment include:

1. Blood Transfusions: Blood transfusions treat and prevent sickle cell anaemia complications, like stroke. 

1. During the procedure, red blood cells are removed from a donor blood supply and given intravenously to the person with sickle cell anaemia. 

2. In certain cases, blood transfusions may be necessary to boost the number of normal red blood cells and improve oxygen delivery. Risks may include:

1. Immune response (the body defends itself against substances it sees as foreign or harmful) to donor blood

2. Infection

3. Excess iron buildup in the body

2. Stem Cell Transplant(Bone Marrow Transplant): The procedure involves replacing damaged bone marrow (due to sickle cell anaemia) with healthy donor bone marrow. 

1. Since the procedure is associated with risks like death, it is recommended only for people with significant symptoms and complications like stroke, acute chest syndrome, or recurring pain crises. 

Cost of Sickle Cell Anaemia Treatment

The cost of sickle cell anaemia treatment varies on several factors, including treatment technique used, location of the hospital, type of the hospital, patient’s age, other comorbidities that the patient has and much more.

It is advised that the patient must consult a doctor to get diagnosed and receive the appropriate treatment at the right time and at an affordable cost. The table below provides the cost of the sickle cell anaemia treatment

Life Expectancy of Sickle Cell Anaemia

Earlier, few babies with sickle cell anaemia lived past five years. However, the life expectancy of individuals with sickle cell anaemia has significantly improved over the years due to advances in healthcare and treatment options. 

With proper management and regular medical care, many individuals with sickle cell anaemia can live well into adulthood and have a near-normal lifespan. As per a new study, the average life expectancy of individuals with sickle cell disease is about 52.6 years. 

Most people with sickle cell anaemia have a risk of developing new medical conditions, some of which can be life-threatening. The following are the conditions and symptoms linked to sickle cell anaemia. 

1. Vaso-Inclusive Crisis (VOC): VOC, or acute pain crises, is the most common condition that patients with sickle cell anaemia may develop. 

1. While the condition can affect any body part, it usually affects the abdomen, arms, lower back, and legs. Symptoms of VOC may include:

1. Sudden intense pain

2. Sharp or stabbing pain

2. Acute Chest Syndrome (ACS): The most common complication of sickle cell anaemia, acute chest syndrome is also the leading cause of death. 

1. The condition requires emergency medical treatment. It happens when sickle cells clump and clog blood vessels in the lung, causing symptoms like:

2. Chest pain

3. Fever

4. Cough

5. Difficulty breathing

3. Stroke: Stroke occurs when sickle cells block blood flow to a brain area. Anyone, including babies, with sickle cell anaemia can develop a stroke. 

1. About 11% of people with the disease get a stroke by age 20, and 24% get a stroke by age 45. 

2. If a person or their baby experiences the symptoms of a stroke, they should seek medical attention immediately, as a stroke can be fatal. 

4. Bacterial Infections: People with sickle cell anaemia can develop infections caused by Haemophilus influenza, Streptococcus pneumonia, and non-Typhi Salmonella species. Symptoms of these infections include:

1. Fever

2. Difficulty breathing

3. Cough

4. Headache

5. Bone pain

5. Splenic Sequestration: It is a condition when several sickle cells get stuck in the spleen, causing it to enlarge and leading to belly pain in the upper left side.

1. This condition can be life-threatening. Since spleen enlargement is visible or can be felt through the skin, parents should regularly check their child’s spleen. 

6. Chronic Kidney Disease: Sickle cells that block blood flow to kidneys can deprive them of blood and oxygen, leading to kidney damage. About 30% of people with sickle cell anaemia also develop chronic kidney disease. 

7. Pulmonary Hypertension (PH): Sickle cell anaemia can develop high blood pressure in the lungs. About 6 to 11% of people with anaemia (usually adults) develop PH. 

8. Leg Ulcers: About 2% of individuals with sickle cell anaemia develop leg ulcers after age 10. Symptoms include painful open sores, usually on the ankles, that do not heal. 

9. Priapism: Sickle cells can block the blood flow to the penis, leading to impotence over time. About 35% of males with sickle cell anaemia develop priapism or painful, long-lasting (four hours or more) erections. 

10. Detached Retina: Sickled cells can block blood vessels in the retina, causing detached retinas. Symptoms of a detached retina include:

1. Seeing flashes of light

2. Seeing several floaters (dark spots, threads, or squiggly lines across a person’s vision)

3. Darkening of side vision

4. Darkening or shadow covering part of the vision

11. Deep Vein Thrombosis: Sickle red blood cells can cause blood clots, increasing the risk of deep vein thrombosis (a clot lodging in a deep vein) or pulmonary embolism (a clot lodging in the lung). These conditions can result in serious illness or even prove to be fatal. 

12. Gallstones: It is a complication not caused by the blockage of a blood vessel. Instead, gallstones result from a high level of bilirubin in the body. Bilirubin is a substance that is created when red blood cells are broken down.

13. Pregnancy Complications: Sickle cell anaemia can increase complication risks, such as blood clots and high blood pressure during pregnancy. 

Furthermore, it may increase a woman’s risk of miscarriage, premature birth, or babies with low birth weight. 

When to See a Doctor?

A person should see their doctor immediately if their child experiences sickle cell anaemia symptoms. Children with sickle cell anaemia can develop infections, which typically start with a fever. 

Therefore, parents should seek medical attention for a fever greater than 101.5℉. They should also get prompt medical care for symptoms of stroke, including:

1. Weakness or paralysis in only one side of the body, including the face, arms, or legs

2. Confusion

3. Trouble walking or talking

4. Sudden changes in the vision

5. Unexplained numbness

6. Severe headache 

A healthy, balanced diet is vital for individuals with sickle cell anaemia to support overall health and manage the condition effectively. People with sickle cell anaemia should consume a diet high in calories, nutrients, fruits, and vegetables. 

Furthermore, it should be low in saturated fat, added sugar, and sodium. Some dietary recommendations are as follows:

1. Increase Zinc Intake: Children with sickle cell anaemia may be at a high risk of zinc deficiency. Doctors may prescribe zinc supplements or recommend incorporating zinc into the diet. Good sources of zinc include:

1. Fish

2. Meat

3. Nuts

4. Pulses like lentils and beans

5. Dairy products like yoghurt, cottage cheese, etc. 

6. Whole grains like rice, barley, etc. 

2. Include More folate: Folate, a B vitamin, is important for producing and storing red blood cells. People can easily obtain folate through certain foods, including:

1. Peanuts

2. Leafy green vegetables like spinach and broccoli

3. Fruits like papaya and strawberries

4. People can also consume foods fortified with folate, including:

5. Rice

6. Bread

7. Cereals

8. Flour

9. Cornmeal

10. Pasta

3. Drink More Liquids: People with sickle cell anaemia should drink lots of fluids, especially water, to prevent dehydration, which can trigger sickle cell crises. 

   1. They should try to drink at least 8-10 glasses of water daily. Other fluids may include flavoured water, fruit juice, and milk.  

Sickle cell anaemia is a genetic disorder characterised by abnormal red blood cells that can cause pain crises, organ damage, anaemia, and other complications. Early diagnosis, proper management, and regular medical care are important in enhancing the quality of life for individuals with this condition. Treatment focuses on relieving symptoms, preventing complications, and enhancing overall well-being.

HexaHealth is a healthcare platform that offers comprehensive support for sickle cell anaemia symptoms and treatment. Through HexaHealth, you can access a network of healthcare professionals, including haematologists, genetic counsellors, and specialised care providers.

Our team provides resources, educational materials, and personalised treatment plans to help you manage your condition effectively, reduce symptoms, and improve your overall health. Consult a HexaHealth expert TODAY to get prompt diagnosis and treatment for the disease.

Suggested Reads,