Sickle cell anemia is not just a medical condition — it is a lifelong journey that affects millions of
people globally, particularly those of African, Mediterranean, Middle Eastern , and Indian
ancestry. Despite its growing awareness, a certain percentage are still unaware and many still
wonder, “ What causes sickle cell anemia?”, “ Can it be detected before birth?”, “ What are the
latest treatment options available at present?”.
Together we will decode these answers. Let’s look into the causes , symptoms, complications,
prevention methods and treatment options — suitable for both patients and caregivers, arming
them with knowledge to manage the disease effectively.
What is Sickle Cell Anemia?
Sickle cell anemia is a hereditary blood disorder caused by a mutation in the gene that instructs
the body to produce hemoglobin — the protein in red blood cells responsible for carrying oxygen
throughout the body.
In a healthy individual, red blood cells are round and flexible, allowing them to move easily
through blood vessels. However, in someone with sickle cell anemia, the red blood cells
become stiff, sticky, and shaped like crescent moons or sickles, hence the name. These
abnormally shaped cells can clump together, blocking blood flow, leading to painful episodes
and potential damage to vital organs.
What Causes Sickle Cell Anemia?
The root cause of sickle cell anemia is a mutation in the HBB gene . which provides instructions
for creating hemoglobin beta, a component of adult hemoglobin. When someone inherits two
copies of the mutated gene (one from each parent), they develop sickle cell anemia.
Is Sickle Cell Anemia Genetic?
Yes, it is purely genetic. It is passed down from parents to their children and cannot be acquired
later in life. Individuals who inherit only one copy of mutated gene are said to inherit sickle cell
trait and usually do not exhibit severe symptoms but can pass the gene to their children.
Sickle Cell Anemia Symptoms –
Symptoms often begin in the infancy, around five to six months of age, and can vary in severity.
The most common signs include:
● Sickle Cell Crises (Pain episodes): Sharp or throbbing pain , especially in the chest,
abdomen, joints, or bones.
● Chronic Fatigue and Anemia: Due to a reduced number of healthy red blood cells in
the body.
● Swelling in Hands and Feet: Swelling in Hands and Feet: Caused by blocked blood
circulation.
● Frequent Infections : Damaged spleen function weakens the immune system.
● Delayed Growth and Puberty: Reduced oxygen levels impair development.
● Vision Problems: Vision Problems: Blocked blood flow to the eyes can damage the
retina.
Recognising these symptoms early can lead to better management and fewer complications.
How to Manage Sickle Cell Anemia?
While there is no universal cure, modern treatment focuses on minimising symptoms,
managing crises, and preventing long-term complications.
- Pain Management –
Painful episodes are managed using:
● Over the counter pain relievers (acetaminophen and ibuprofen)
● Prescription opioids for severe crises
● Heat therapy, hydration, and rest - Medication –
● Hydroxyurea: increases fetal hemoglobin production, reducing sickling and the
frequency of pain episodes.
● L-glutamine (Endari): Helps reduce oxidative stress in red blood cells. - Blood Transfusions-
Regular transfusions help reduce the risk of stroke, especially in children, and treat severe
anemia. - Bone Marrow or Stem Cell Transplant:
The only potential cure, this procedure replaces diseased bone marrow with healthy cells from a
donor. However, it is complex and typically limited to younger patients with matched sibling
donors.
New Treatments for Sickle Cell Disease
Medical advancements are making groundbreaking strides:
● Gene Therapy (e.g., CRISPR-Cas9): One of the most promising frontiers, gene editing
therapies aim to correct the faulty hemoglobin gene. Early trials show high success
rates, potentially offering a permanent cure.
● Voxelotor (Oxbryta): Approved to increase hemoglobin levels and improve oxygen
delivery.
● Crizanlizumab (Adakveo): Reduces the frequency of pain crises by preventing red
blood cell clumping.
● L-glutamine: Now a standard supportive treatment option that reduces sickle cell-
related complications. These new innovations are reshaping the future for those living with sickle cell disease.
How To Prevent Sickle Cell Crisis?
Although crises can’t always be avoided, certain practices can reduce their frequency and
severity:
● Stay Hydrated: drink plenty of water to prevent red cell dehydration.
● Avoid Extreme Temperatures: Both cold and heat can trigger pain episodes.
● Manage Stress: Psychological stress can contribute to flare-ups.
● Exercise Moderately: Stay active without overexerting.
● Keep Vaccinations Up to Date: Preventing infections is crucial.
● Avoid Smoking and Alcohol: These can impair blood flow and increase crisis risk.
● Travel Cautiously: Avoid high altitudes with low oxygen levels.
Can Sickle Cell Anemia Be Detected Before Birth?
Yes, paternal screening can detect it through the following ways:
● Chorionic Villus Sampling (CVS) : Done between the 10th and 12th week of
pregnancy.
● Amniocentesis: Conducted between the 15th and 20th week.
These tests are especially recommended if both parents are carriers of the sickle cell trait.
Genetic counseling is often offered to help parents make informed decisions.
Difference Between Sickle cell Trait and Anemia
One may get confused between the two and assume one for another, hence, understanding
this distinction is key :
● Sickle Cell Trait : Inheriting one mutated gene and one normal gene. Individuals are
usually asymptomatic but can pass the gene to offspring.
● Sickle Cell Anemia: Inheriting two mutated genes, leading to full-blown symptoms,
complications and health risks.
Couples with the trait are often encouraged to undergo genetic testing and counselling before
starting a family.
Life Expectancy with Sickle Cell Anemia
Thanks to early diagnosis, improved care, and treatment innovations, life expectancy for
individuals with this disorder has significantly improved. With proper care and management
routine many people are able to live up to their late 50’s and 60’s. But for that one must be
vigilant and aware. They must follow up with a professional regarding the disorder and follow
any prescribed medical suggestions promptly. Life adjustment and staying informative is vital for
life extending and living a life full of moments.
Living with Sickle Cell Anemia
Successfully managing this condition involves a holistic approach:
● Build a Care Team : Regular visits with a hematologist and specialists.
● Eat Nutritious Foods : A diet rich in folic acid, iron, and vitamins.
● Join Support Networks: Emotional support plays a major role in mental health.
● Track Symptoms: Use a journal or health app to monitor pain patterns.
Empowerment through education, awareness and support can make a world of difference in
daily life.
This disorder or disease is serious and lifelong, but it doesn’t have to limit one’s potential or
quality of life. Being stuck with a disorder as this one can be disheartening. But worry not, with
informed and precise measures you can still achieve your dreams and be proud! So take care
and enjoy this beautiful life.
