Sickle cell anemia

Causes Of Sickle Cell Anemia

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. This leads to insufficient blood supply to different parts of the body.  

The abnormal RBCs also die early (hemolysis) and eventually cause 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)

Symptoms Of Sickle Cell Anemia

In most cases, newborns do not have symptoms during the initial 5 to 6 months because the hemoglobin produced by the developing fetus (fetal hemoglobin) safeguards the RBCs from sickling. This fetal hemoglobin is absent in the RBCs that are created after birth. Thus, by 5 months of age, the sickling of the red blood cells becomes prominent, and symptoms begin.

Symptoms can vary from person to person and can change over time. The frequency of symptoms also varies depending on the hemoglobin level in the blood.  Symptoms also vary as per 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 inside 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. These conditions need immediate hospitalization. The signs and symptoms include:

• Sudden weakness

• Numbness on one side of the body

• Confusion

• Trouble in speaking, seeing, or walking

Risk Factors For Sickle Cell Anemia

The risk factors of sickle cell anemia include:

1. Family history

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 getting it in the second child. 

2. Ethnicity

Sickle cell disease is more common in certain ethnic groups. Around 1 out of every 12 individuals with sickle cell disease are African-Americans. People of Middle Eastern, Asian, Indian, Hispanic-Americans and Mediterranean descent are also more prone to SCA.

Diagnosis Of Sickle Cell Anemia

The diagnosis of SCA is made through:

1. Screening tests

The screening tests consist of the following blood tests to check the hemoglobin level and other blood parameters:

• Complete blood count: This test gives a full blood profile and its components. Individuals with hemophilia have an abnormal CBC. SCA is characterized by a reduction in red blood cells (RBCs), hemoglobin, and hematocrit (% volume of red blood cells)

• Peripheral blood smear: This test also evaluates different components of the blood. A drop of blood placed on a glass plate is treated with various stains. It is, then, observed under a microscope. 

• Sickling test: In this test, the blood is mixed with a reagent. The turbid appearance indicates the presence of abnormal hemoglobin. 

Quick Byte

Neonatal screening (NBS) for SCD is done at the time of birth. The purpose of neonatal screening is to detect both sickle cell disease (SCD) and sickle cell trait (AS) which help identify the carriers. Apart from this, early diagnosis and treatment would be possible by screening in the neonatal period.

2. Confirmatory tests

• Hemoglobin electrophoresis: This test separates different variants of hemoglobin based on their size and electrical charge. 

• Isoelectric focusing: This test also determines abnormal hemoglobin. 

• High-performance liquid chromatography (HPLC): This technique separates the different types of hemoglobin fractions due to their various interactions with a solvent.

• Genetic test: The genetic test precisely detects the various types of sickle cell disease. The test analyzes the DNA sequence change leading to sickle cell disease development. 

3. Prenatal testing

Women with a family history of SCA are recommended to undergo prenatal screening at week 8 to 10. Two methods for prenatal testing:

• CVS (chorionic villus sampling): A tissue sample is taken from the placenta to test for genetic abnormalities. 

• Amniocentesis: It involves an examination of amniotic fluid (fluid around the baby). 

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Prevention Of Sickle Cell Anemia

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 community level and involve: 

• Raising awareness and providing counseling before marriage or conception

• Establishing genetic counseling and testing centers in high prevalence areas 

Specialist To Visit 

Children with a family history of sickle cell anemia should go for testing.  Individuals with following symptoms even without a family history should also consult the doctor:

• Fever above 101° F

• Difficulty breathing

• Chest pain

• Abdominal (belly) swelling

• Severe headache

• Sudden weakness or loss of feeling and movement

• Seizure

• Painful erection of the penis that lasts more than 4 hours
  
  

Recommended frequency of consultation:

• Newborns should see a doctor every 2 to 3 months till one year of age

• Children from 1 to 2 years of age should see a doctor at least every 3 months

• Children and adults from 2 years of age or older should see a doctor at least once every year

• Adults should consult once in every 2 to 3 months
  
  

The speciality of doctors that might help include:

• General physician

• Chronic pain specialist 

• Hematologist

• Urologist

• Pediatrician

• Geneticist

General physician helps in diagnosing the condition and initiates treatment. 

The severe unbearable pain can be managed effectively by a chronic pain specialist. 

Hematologist specializes in blood disorders. 

Urologist help in managing symptoms like prolonged erection.

Pediatrician  help in diagnosing and managing the condition in infants and children. 

A geneticist is an expert in managing genetic disorders. These specialists help in the correct diagnosis of the condition.

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Treatment Of Sickle Cell Anemia

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.

Home-care For Sickle Cell Anemia

Follow these dietary recommendations to compensate the ruptured RBCs:

1. Add good sources of folic acid and iron in diet

Folic acid and iron serve a vital role in the synthesis of blood. To compensate for the lost blood, it is necessary to add good sources of folic acid, which are:

• Green leafy vegetables such as spinach

• Fruits

• Dried beans 

• Peas 

• Peanuts 

• Avocado

• Broccoli

• Papaya 

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2. Add Vitamin C

Vitamin C, a powerful nutrient, not only enhances the absorption of iron but also aids in healing and repairing wounds. By incorporating fresh fruits and vegetables such as guava, strawberry, papaya, kiwi, spinach, carrots, and bell peppers into your diet, you're boosting your body's ability to recover. 

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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 in reducing 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.

Complications Of Sickle Cell Anemia

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

1. Complications affecting whole body

It include:

• Acute pain crisis (sharp, intense, stabbing, or throbbing due to blockage of blood by the 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, kness, and ankles and characterized by symptoms such as difficulty in walking and painful joint movement).

• High blood pressure

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

2. Complications affecting specific parts of the body

It includes: 

• Acute chest syndrome (medical emergency characterized by severe chest pain and difficulty breathing due to oxygen deprivation in lungs)

• Sickle retinopathy (injuries in the blood vessels of the eye which can even lead to vision loss)

• Gallstones

• Heart problems

• Leg sores

• Kidney problems such as uncontrolled urination and kidney failure

• Sickle cell intrahepatic cholestasis (severe type of 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 (condition in which bone marrow stops producing new red blood cells suddenly)

• Splenic sequestration crisis (acute severe drop in hemoglobin due to entrapment of red blood cells in spleen)

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

Alternative Therapies For Sickle Cell Anemia

SCA is a chronic and severe disease that can have serious life-threatening complications. So, 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:

1. Heat massage 

Studies have shown that applying heat is associated with a decrease in pain crisis, anxiety, depression, and better overall functioning. However, more research is needed to understand the impact of massage on SCD.

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2. Acupuncture 

It is an ancient technique used in China and Japan. In this, fine metal needles are inserted into the skin at specific points to alleviate pain. 

3. Yoga

The physical positions, mindfulness, relaxation, and breathing exercises offered by Yoga reduce acute and chronic pain associated with SCA. 

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4. Behavioral therapy

This therapy helps reduce the perception of pain by modulating the emotional responses to pain. It includes: 

• Cognitive behavioral therapy (CBT) manages problems by changing the way you think and behave. In CBT, individuals are taught to differentiate emotional and behavioral reactions from a triggering event, such as pain.

• Mindfulness and mind-body techniques, such as meditation, help reduce chronic pain by heightening one’s level of awareness.

Living With Sickle Cell Anemia

Sickle cell disease impacts the individual both physically and emotionally. Most people with sickle cell disease can enjoy most of the activities like others do. The following lifestyle interventions help in preventing complications and aid in improving the overall quality of life:

1. Get vaccinated

Proper vaccination helps prevent infections associated with sickle cell anemia. Enroll in routine immunizations that cover the diseases that are at high risk in sickle cell anemia, including pneumonia and meningococcal vaccines. 

2. Avoid trigger situations 

Any sudden changes in temperature and pressure serve as a trigger for the symptoms of SCA. These situations can be minimized through simple techniques:

• Easing into the water rather than jumping while swimming

• Avoiding high altitudes journey

Certain conditions aggravate the sickle cell crisis. So, it is advisable to limit/avoid these triggers:

• Heavy physical labor

• Alcohol

• Smoking

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3. Maintain hand hygiene

Washing hands is one of the best ways to help prevent getting an infection. 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

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4. Ensure food safety

Contaminated food and beverages are the most important source of infection, and some dietary modifications can help prevent infection. 

• Wash hands, cutting boards, counters, knives, and other utensils after they touch uncooked foods

• Wash vegetables and fruit well before eating them

• Cook the 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.

5. Use over-the-counter pain medications with caution

The consistent pain in SCA often triggers people to take pain relief medications on their own. However, it is always advisable to consult a doctor before taking any OTC medications as they can severely impact the kidneys and liver in the long run.

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6. Go for regular health checkups

It is crucial to analyze the impact of disease on the body through regular comprehensive health checkups. Early detection helps avoid life-threatening complications. 

Assessing yourself for blood-borne infections is also essential, as repeated transfusions increase the risk. 

7. Keep a check on blood pressure

SCA increases the chances of hypertension, which makes the individual more prone to complications like stroke. So, keeping a tab on the blood pressure with the home monitoring machine is always advisable. 

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10. Indulge in some physical activity

Get yourself involved in some sort of physical activity. It is associated with an increase in red blood cell mass. It also helps manage blood pressure. Consult your healthcare provider before starting any exercise. 

11. Choose heart friendly foods

Include heart-healthy foods such as fruits, vegetables, and whole grains in your diet to reduce the complications associated with the heart. Limit saturated fats, sodium (salt), added sugars, and alcohol.

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12. Stay hydrated

Proper hydration is associated with a decreased risk of obstructing blood vessels, stroke, and infections. Make a habit of drinking at least 8 to 10 eight glasses of water in a day.

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Ways to improve quality of life

The recurrent episodes of chronic pain and the regular medical visits gradually affect the ability to work. The fear of complications further worsens mental health. This impairs the quality of life in the long run. The following measures help in improving overall quality of life:

• Discuss your feelings with family and friends

• Dedicate some time of the day to do the activities you like

• Take supportive counseling

• Talk to your doctor, if you have symptoms of depression and anxiety

• Find a patient support group or community-based organization to  provide necessary information, assistance, and support

Tips for pregnant women

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

• Find a team of healthcare providers who deal in high-risk pregnancies and have experience with patients who have sickle cell disease

• Meet with the team throughout your pregnancy to manage the risks

• Have a strict check on your water intake

• Adhere to the vitamin supplements prescribed to you

• Go for one or more blood transfusions during pregnancy, if needed 

Tips for parents/children

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

• Set up a meeting to discuss your child’s condition, its complications, warning signs and the necessary first aid tips 

• Learn how to palpate a child’s spleen in case of an emergency

• Give frequent toilet breaks to the child

• Make your child wear warmers 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