Sickle cell anemia is a rare inherited blood disorder in which the body produces defective hemoglobin (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. Symptoms include yellow skin, dark urine, whitening of the eyes, tiredness, fussiness, swelling of the hands and feet, and shortness of breath.
Bone marrow transplantation is the only cure for this condition. However, medications and blood transfusions are used to manage the symptoms.
Sickle cell disease impacts the individual physically and emotionally. Seeking good medical care and going for periodic checkups helps avoid complications.
Sickle cell anemia is a rare disease (a disease or condition with a prevalence of less than or equal to 1 in 1000 population). Read more about Rare diseases in India.
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.
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)
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.
Paleness
Fussiness
Irritability
Increased sleeping
Rapid breathing
Enlarged abdomen
Swelling and tenderness in the hands and feet
Stunted growth
Fatigue
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
Pain in the hands and feet
Shortness of breath
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
The risk factors of sickle cell anemia include:
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.
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.
The diagnosis of SCA is made through:
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.
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.
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.
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).
Here are some medical tests that are recommended during pregnancy.
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
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.
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.
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
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.
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
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
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 the ruptured RBCs:
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:
Iron and folic acid supplements are just a single click away.
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.
Explore a wide range of Vitamin C supplements.
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.
Sickle cell disease is chronic in nature. Individuals with SCA can develop the following complications over a period of time.
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).
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.
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)
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)
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.
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:
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.
Looking for some heating pads?
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.
The physical positions, mindfulness, relaxation, and breathing exercises offered by Yoga reduce acute and chronic pain associated with SCA.
Here are 12 health benefits of Yoga.
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.
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:
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
Want to quit smoking? Explore our smoking cessation products.
Using the bathroom
Blowing your nose, coughing, or sneezing
Shaking hands
Changing diapers
Touching animals or animal waste
Buy the best sanitizers and hand washes from the comfort of your home.
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.
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.
Do you know how self medication is harming you?
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.
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.
Keep the BP monitoring machine at home.
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.
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.
Here is the complete range of cardiac care products.
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.
Dehydrated? 5 hydrating drinks other than water that you must try!
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
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
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
