Sickle cell anemia

In most cases, newborns do not exhibit symptoms during the initial 5 to 6 months because the hemoglobin produced by the developing fetus (fetal hemoglobin) protects the red blood cells (RBCs) from sickling. This fetal hemoglobin is absent in the RBCs formed after birth. Consequently, by 5 months of age, sickling of the red blood cells becomes prominent, and symptoms begin to appear.

Symptoms can vary from person to person and can change over time. The frequency of symptoms also depends on the hemoglobin level in the blood and varies with the age of the individual.

Symptoms in Infants and Toddlers

• Paleness
• Fever
• Vomiting
• Fussiness
• Irritability
• Increased sleeping
• Rapid breathing
• Enlarged abdomen
• Swelling and tenderness in the hands and feet
• Stunted growth

Symptoms in Adults

• Fatigue
• Dizziness
• Headache
• Cold hands and feet
• Jaundice (yellow-tinted skin or whites of eyes)
• Unusually pale skin and mucous membranes (tissue inside the nose, mouth, and elsewhere in the body)
• Dark urine
• Whitening of eyes
• Tiredness
• Pain in the hands and feet
• Shortness of breath
• Dizziness
• Irregular heartbeat

Warning Signs

The severe drop in hemoglobin may lead to life-threatening conditions such as acute chest syndrome and stroke, which require immediate hospitalization. The signs and symptoms include:

• Sudden weakness
• Numbness on one side of the body
• Confusion
• Trouble speaking, seeing, or walking

RBCs are round-shaped cells that contain hemoglobin. Hemoglobin, which comprises heme (iron) and globin (protein), carries oxygen throughout the body.

Due to their round shape, RBCs can easily move through small blood vessels.

What is sickle cell anemia (SCA) and how is it caused?

SCA is characterized by a defective hemoglobin called hemoglobin S (HBSS). This form of hemoglobin causes the RBCs to become rigid and sickle-shaped. These cells often get stuck and clog the capillaries, leading to insufficient blood supply to different parts of the body.

The abnormal RBCs also die early (hemolysis), eventually causing anemia – a lack of red blood cells. Insufficient blood supply can cause a range of symptoms.

The two possible causes of SCA are:

• Inheritance (passed from parent to child)
• Mutation (change in the DNA sequence that codes for hemoglobin)

• Family history: Sickle cell anemia (SCA) runs in families and is strongly associated with a positive family history. If the first child has SCA, there is a 25% chance of the second child also having it.
• Ethnicity: Sickle cell disease is more prevalent in certain ethnic groups. Approximately 1 in every 12 individuals with sickle cell disease is African American. Individuals of Middle Eastern, Asian, Indian, Hispanic American, and Mediterranean descent are also at a higher risk for SCA.

The diagnosis of Sickle Cell Anemia (SCA) is made through:

1. Screening tests
   • Complete blood count: This test provides a comprehensive blood profile and its components. Individuals with SCA exhibit a reduction in red blood cells (RBCs), hemoglobin, and hematocrit (% volume of red blood cells).
   • Peripheral blood smear: This test evaluates different blood components. A drop of blood placed on a glass slide is treated with various stains and observed under a microscope.
   • Sickling test: In this test, blood is mixed with a reagent; a turbid appearance indicates the presence of abnormal hemoglobin.
2. Quick Byte

   Neonatal screening (NBS) for Sickle Cell Disease (SCD) is performed at birth. The purpose is to detect both SCD and sickle cell trait (AS), aiding in identifying carriers. Early diagnosis and treatment are facilitated by screening during the neonatal period.

3. Confirmatory tests
   • Hemoglobin electrophoresis: This test separates different hemoglobin variants based on size and electrical charge.
   • Isoelectric focusing: This test identifies abnormal hemoglobin.
   • High-performance liquid chromatography (HPLC): This technique separates various hemoglobin fractions based on their interactions with a solvent.
   • Genetic test: This test accurately detects the types of sickle cell disease by analyzing DNA sequence changes that lead to its development.
4. Prenatal testing

   Women with a family history of SCA are advised to undergo prenatal screening between weeks 8 and 10. Two methods for prenatal testing include:

   • CVS (chorionic villus sampling): A tissue sample is taken from the placenta to test for genetic abnormalities.
   • Amniocentesis: This involves examining the amniotic fluid surrounding the baby.

Here are some medical tests that are recommended during pregnancy. Tap to Read.

Sickle cell anemia is an inherited genetic condition. Hence, there is no way to prevent it for someone who is born with it.

Therefore, the following points are advocated to reduce the number of children born with the disease. These strategies are usually initiated at the community level and involve:

• Raising awareness and providing counseling before marriage or conception
• Establishing genetic counseling and testing centers in high prevalence areas

The management goal for SCA should be centered around patients, with a life course approach that includes counseling, education on complications, and premarital and pre-conception guidance.

Principles of Management

• To improve the life expectancy of the affected individuals
• To prevent and reduce the number of crises and complications
• To treat crises and complications promptly
• To promote a healthy lifestyle to prevent future events

A. Prophylactic and Preventive Management

It involves measures that are taken to reduce the common painful complications of SCA. It includes:

• Taking folic acid to prevent deficiency of blood cells
• Administration of oral Penicillin V to minimize the occurrence of pneumococcal infection up to 5 years of age
• Vaccinations to prevent infection and associated complications in later stages of life

B. Treatment of Severe Symptoms

The following interventions help manage symptoms and reduce complications:

1. Medications
   • Voxelotor to prevent the formation of sickle cells. This lowers the risk of anemia and clogging of blood vessels.
   • Crizanlizumab prevents blood cells from sticking to the walls of vessels, avoiding the blockage of blood flow. This reduces inflammation and episodes of pain.
   • Hydroxyurea to prevent complications. It is reported to reduce the need for transfusions and hospital admissions.
   • L-glutamine reduces pain that develops when blood flow is blocked through tiny blood vessels in the chest, abdomen, and joints.
   • Over-the-counter pain medicines such as paracetamol or ibuprofen manage mild to moderate pain.
   • Oral mild to moderate opioids, such as hydrocodone, oxycodone, morphine, or hydromorphone to reduce acute pain.
   • Intravenous or subcutaneous morphine or hydromorphone to subside the pain.
   • Intranasal or intravenous fentanyl for acute pain unresponsive to oral therapy.
   • Penicillin to prevent the infection in the bloodstream.
2. Blood Transfusion

   An intravenous line (IV) gives donated blood or blood components. It is recommended:

   • In case of complications such as acute stroke, acute chest crisis, and multi-organ failure.
   • Before surgery, to prevent complications.

C. Management of Complications

Individuals with SCA are prone to life-threatening complications such as acute chest syndrome and stroke. They are medical emergencies and need immediate medical attention. They are managed through the following measures, mainly in the intensive care units (ICUs):

• Maintaining hydration
• Oxygen therapy
• Blood transfusion
• Intravenous antibiotics
• Mechanical breathing through assisted devices

D. Bone Marrow Transplant

Currently, it is the only cure for sickle cell disease. However, the procedure has certain limitations:

• High cost of transplant
• Difficult to find a matched donor
• Complications such as infections

This procedure is usually performed in children with certain complications such as stroke, acute chest crisis, and recurring pain crises.

Follow these dietary recommendations to compensate for the ruptured RBCs:

1. Add good sources of folic acid and iron to your diet: Folic acid and iron play a vital role in the synthesis of blood. To compensate for the lost blood, it is necessary to include good sources of folic acid, which are:
• Green leafy vegetables such as spinach
• Fruits
• Dried beans
• Peas
• Peanuts
• Avocado
• Broccoli
• Papaya
2. Add Vitamin C: Vitamin C, a powerful nutrient, enhances the absorption of iron and aids in healing and repairing wounds. Incorporate fresh fruits and vegetables such as guava, strawberry, papaya, kiwi, spinach, carrots, and bell peppers into your diet to boost your body's ability to recover.
3. Switch to healthier fats: A diet loaded with saturated and trans fats worsens the condition of blood vessels and the heart. The following measures help reduce overall fat in the diet:
• Choose low-fat dairy products such as skimmed milk and low-fat cheese
• Use baking, boiling, or grilling instead of frying
• Prefer vegetable oils over butter or animal fats

Sickle cell disease is chronic in nature. Individuals with SCA can develop the following complications over time:

1. Complications Affecting the Whole Body

• Acute pain crisis (sharp, intense, stabbing, or throbbing pain due to blockage of blood flow by abnormal cells)
• Nutritional deficiencies, especially of Vitamin D, omega-3, Vitamin C, and zinc
• Delayed growth and puberty
• Infections
• Avascular or aseptic necrosis (sickling in the hip bones and some joints such as shoulders, knees, and ankles, characterized by difficulty in walking and painful joint movement)
• High blood pressure

Note: Pregnant women with SCA are at high risk of hypertension and blood clots, increasing the risk of miscarriage, premature birth, and low birth weight babies.

2. Complications Affecting Specific Parts of the Body

• Acute chest syndrome (a medical emergency characterized by severe chest pain and difficulty breathing due to oxygen deprivation in the lungs)
• Sickle retinopathy (injuries in the blood vessels of the eye, which can lead to vision loss)
• Gallstones
• Heart problems
• Leg sores
• Kidney problems such as uncontrolled urination and kidney failure
• Sickle cell intrahepatic cholestasis (severe liver damage due to blockage of sickled red cells in the liver)
• Priapism (painful erection)
• Stroke

3. Severe Anemia Complications

Severe anemia can sometimes lead to:

• Aplastic crisis (a condition in which the bone marrow suddenly stops producing new red blood cells)
• Splenic sequestration crisis (an acute severe drop in hemoglobin due to entrapment of red blood cells in the spleen)

Note: The above two conditions most commonly occur in newborns and children who have sickle cell disease.

SCA is a chronic and severe disease that can have serious life-threatening complications. It is essential to remember that alternative treatments cannot replace medical treatment; they can be considered alongside conventional medical treatments.

Some alternative therapies may include:

• Heat massage: Studies have shown that applying heat is associated with a decrease in pain crises, anxiety, depression, and improved overall functioning. However, more research is needed to understand the impact of massage on SCD.
• Acupuncture: This ancient technique, used in China and Japan, involves inserting fine metal needles into the skin at specific points to alleviate pain.
• Yoga: The physical positions, mindfulness, relaxation, and breathing exercises offered by yoga reduce acute and chronic pain associated with SCA.
• Behavioral therapy: This therapy helps reduce the perception of pain by modulating emotional responses to pain. It includes:
  • Cognitive behavioral therapy (CBT): CBT manages problems by changing the way individuals think and behave. In CBT, individuals learn to differentiate emotional and behavioral reactions from triggering events, such as pain.
  • Mindfulness and mind-body techniques: Techniques such as meditation help reduce chronic pain by heightening one’s level of awareness.

Sickle cell disease impacts individuals both physically and emotionally. Most people with sickle cell disease can enjoy many activities like others do. The following lifestyle interventions help prevent complications and improve overall quality of life:

• Get vaccinated: Proper vaccination helps prevent infections associated with sickle cell anemia. Enroll in routine immunizations that cover diseases at high risk in sickle cell anemia, including pneumonia and meningococcal vaccines.
• Avoid trigger situations: Sudden changes in temperature and pressure can trigger symptoms of sickle cell anemia. These situations can be minimized through simple techniques:
  • Easing into the water rather than jumping while swimming.
  • Avoiding high altitude journeys.
  Certain conditions can aggravate sickle cell crises. It is advisable to limit or avoid these triggers:
  • Heavy physical labor.
  • Alcohol.
  • Smoking.
• Maintain hand hygiene: Washing hands is one of the best ways to help prevent infections. Make a habit of washing hands after:
  • Using the bathroom.
  • Blowing your nose, coughing, or sneezing.
  • Shaking hands.
  • Changing diapers.
  • Touching animals or animal waste.
• Ensure food safety: Contaminated food and beverages are significant sources of infection, and some dietary modifications can help prevent this:
  • Wash hands, cutting boards, counters, knives, and other utensils after they touch uncooked foods.
  • Wash vegetables and fruit thoroughly before eating.
  • Cook food thoroughly.
  • Avoid consuming uncooked and unpasteurized milk.
  • Drink only bottled water while traveling.
  • Avoid food buffets, uncooked foods or peeled fruits and vegetables, and ice in drinks.
• Use over-the-counter pain medications with caution: The consistent pain in sickle cell anemia often leads individuals to self-medicate. However, it is advisable to consult a doctor before taking any OTC medications, as they can severely impact the kidneys and liver in the long run.
• Go for regular health checkups: It is crucial to assess the impact of the disease on the body through regular comprehensive health checkups. Early detection helps avoid life-threatening complications. Assessing for blood-borne infections is also essential, as repeated transfusions increase the risk.
• Keep a check on blood pressure: Sickle cell anemia increases the chances of hypertension, making individuals more prone to complications like stroke. It is advisable to monitor blood pressure with a home monitoring machine.
• Indulge in some physical activity: Engage in physical activity, which is associated with an increase in red blood cell mass and helps manage blood pressure. Consult your healthcare provider before starting any exercise.
• Choose heart-friendly foods: Include heart-healthy foods such as fruits, vegetables, and whole grains in your diet to reduce complications associated with the heart. Limit saturated fats, sodium (salt), added sugars, and alcohol.
• Stay hydrated: Proper hydration is associated with a decreased risk of obstructing blood vessels, stroke, and infections. Aim to drink at least 8 to 10 glasses of water daily.

Ways to improve quality of life

The recurrent episodes of chronic pain and regular medical visits can affect the ability to work. The fear of complications may worsen mental health, impairing quality of life in the long run. The following measures can help improve overall quality of life:

• Discuss your feelings with family and friends.
• Dedicate time each day to activities you enjoy.
• Consider supportive counseling.
• Talk to your doctor if you experience symptoms of depression and anxiety.
• Find a patient support group or community-based organization for information, assistance, and support.

Tips for pregnant women

Women with sickle cell anemia may face complications during pregnancy, such as premature delivery and low birth weight babies. Follow these tips to minimize complications:

• Find a team of healthcare providers experienced in high-risk pregnancies and sickle cell disease.
• Meet with the team throughout your pregnancy to manage risks.
• Monitor your water intake closely.
• Adhere to prescribed vitamin supplements.
• Consider blood transfusions during pregnancy if needed.

Tips for parents/children

Newborns and children require extra care to remain protected from infections. Follow these tips if you are a parent or caregiver of an affected child:

• Arrange a meeting to discuss your child’s condition, its complications, warning signs, and necessary first aid tips.
• Learn how to palpate a child’s spleen in case of an emergency.
• Give frequent toilet breaks to the child.
• Ensure your child wears warm clothing in cold weather.
• Watch for signs of stroke, such as shortness of breath.
• Take special care of injuries, such as applying direct pressure for bleeding, wrapping with an ace bandage, or elevating the affected part.