Sickle Cell Anemia

Sickle Cell Anemia

What is sickle cell anemia? 

Sickle cell anemia is a condition that affects the structure of red blood cells. Normal red blood cells are spherical, however in sickle cell anemia, haemoglobin becomes faulty, causing red blood cells to shift their form. Some red blood cells have sickle or crescent moon shapes. These sickle cells become hard and sticky, slowing or blocking blood flow. 

What causes sickle cell
anemia? 

Sickle cell anemia is characterized by a
mutation in the gene that directs the body to produce haemoglobin, an iron-rich
molecule found in red blood cells. Red blood cells use haemoglobin to transport
oxygen from the lungs to the rest of the body. The sickle cell haemoglobin
causes red blood cells to become hard, sticky, and malformed. 

In order for a child to be affected, both
parents must have one copy of the mutant gene, also known as the sickle cell
trait, and when both copies of faulty gene is inherited in child that results
in sickle cell disease.

If just one parent passes on the sickle cell
trait to their child, they may do not usually exhibit symptoms. However, they
are disease carriers, which means they may pass the gene on to their offspring. 

What are the signs and
symptoms of sickle cell anemia? 

Anemia: Sickle cells break
down easily and die. Red blood cells usually last about 120 days before they
need to be replaced. However, sickle cells usually die within 10 to 20 days,
leading to a deficiency of red blood cells (anemia). Without adequate red blood
cells, the body is unable to get enough oxygen, leading to fatigue. 

Recurrent pain episodes: This is a major symptom of sickle cell anemia. Pain arises when red blood cells block the flow of blood to your chest, abdomen, and joints through the small blood vessels. 

Hand and foot swelling:  Swollen hands
and feet are caused by sickle-shaped red blood cells that impede blood
circulation. 

Recurrent infections: Sickle cells can
harm the spleen, making it more vulnerable to infections. Vaccinations and
antibiotics are regularly given to infants and children with sickle cell anemia
to avoid potentially fatal illnesses such as pneumonia. 

Slow adolescence or development: Red blood cells
transport oxygen and nutrients throughout the body. A lack of healthy red blood
cells can impair child and toddler growth and postpone puberty in teens. 

Issues with vision: Sickle cells can
clog tiny blood arteries that feed the eyes. This can cause retinal damage and
eyesight issues. 

Are there any complications
associated with sickle cell anemia? 

Stroke: Anemia cells can
obstruct circulation of blood to a particular location of the brain. Seizures,
paralysis or coldness of the arms and legs, unexpected speech impairment, and
unconsciousness are all symptoms of a stroke. If your child exhibits any of
these indications, seek medical attention immediately. A stroke has the
potential to be deadly. 

Acute chest syndrome: This potentially
fatal consequence can be caused by a lung disease or sickle – cell disease that
clog blood channels in the lungs, causing in chest discomfort, fever, and
trouble breathing. It could necessitate urgent medical care. 

Pulmonary hypertension: People with this
disease might have excessive blood flow in their lungs. This condition is
usually seen in adults. This illness, which can be deadly and is indicated by
breathing difficulties and exhaustion. 

Organ damage: Sickle cells that
obstruct blood circulation to organs deplete the afflicted organs of blood and
oxygen. Blood with sickle cell anemia is also persistently deficient in oxygen.
This shortage of oxygen-rich blood can harm nerves and organs, including the kidneys,
liver, and spleen, and can be deadly. 

Splenic sequestration: Numerous sickle
cells can become stuck in the organ, allowing it to expand and perhaps causing
tummy discomfort on the left side of the body. This is a fatal condition.

Blindness:  Sickle cells can obstruct the small blood arteries that
feed the eyes. This can lead to complications with eyesight over time. 

Leg ulcers. Sickle cell anemia
can increase the risk of ulcers if the open wounds on the legs are left
untreated. 

Deep vein thrombosis:  Disorder of red
blood cells can result in blood clots, increasing the chance of a clot becoming
lodged in a deep vein thrombosis or pulmonary embolism. Both can result in
severe disease or even death. 

Pregnancy complications:  During pregnancy,
sickle cell anemia might raise the risk of high blood pressure and clotting. It
can also raise the chances of miscarriage, early birth, and having infants with
low birth weight. 

How is sickle cell anemia
diagnosed? 

Anemia is frequently detected
at birth or in under few months of life. A simple blood test performed at birth
detects sickle cell disease by looking for aberrant haemoglobin gene. However,
a positive test for hemoglobin
disorders does not automatically indicate that a child has genetic
disease, thus more testing is required. More blood tests and laboratory tests
such as transcranial Doppler
ultrasonography (TCD), or genetic screening may be required. 

A blood sample is obtained from an arm veins in
adults. In newborns and infants, blood is frequently drawn from a finger or
heel. The specimen is subsequently sent to a lab to be checked for sickle cell
anemia. 

If you or your child has sickle cell, your
doctor may recommend further testing to rule out any potential consequences of
the condition. 

If both you and your child have the sickle cell
trait, you will almost certainly be directed to a genetic consultant. 

How is sickle cell anemia
treated? 

There are some medicines which can decrease the
complications associated with sickle cell disease. Allogenic hematopoietic stem cell transplant
is the only cure for Sickle cell disease wherever indicated.

If your child has sickle cell disease, your doctor will tell you what you’ll do to
help him or her live normally. To avoid life-threatening infections, your child
may need to take oral medication.

How can we prevent from sickle cell anemia? 

If you have the sickle cell anemia, preconception counselling or consultation with a medical professional before trying to conceive can help you know your risk of having a baby with sickle cell. Your doctor can also describe treatment options and preventive methods.  

Inputs by Dr. Vipin Khandelwal, Consultant, Haemto-oncology and Bone Marrow Transplant Physician, Apollo Cancer Centres Navi Mumbai