Sickle Cell Anemia

Causes of Sickle Cell Anemia
Sickle cell anemia is caused by a point mutation in the gene that tells your body to
make the iron-rich compound that gives blood its red colour (haemoglobin). It is located
on the short arm of Chromosome 11. In the mutated DNA sequence, Thymine (T) is
replaced by Adenine (A) in the second position of the triplet. The change in the base
sequence of the DNA results in a codon of the mRNA being altered during transcription.
This fault results in a different amino acid (Valine) to form instead of Glutamic acid. This
causes the body to produce a new form of haemoglobin (HbS) which behave differently
to regular haemoglobin.
The presence of valine in the protein makes the deoxygenated haemoglobin less
soluble. HbS crystallise into rod-like structures. This distorts the normal circular shape of
the red blood cell, causing them to take a rigid, sickle shape. They are stiff, sticky and
tend to block blood flow in the blood vessels of the limbs and organs. This causes pain,
organ damage and also raises the risk of infection.
HbS is passed from generation to generation in a pattern of inheritance called
autosomal recessive inheritance. This means that both the mother and the father must
pass on the defective form of the gene for a child to be affected.
If only one parent passes the sickle cell gene to the child, that child will have sickle
cell trait. With one normal haemoglobin gene and one defective form of the gene, people
with sickle cell trait have both normal haemoglobin and sickle cell haemoglobin. Their
blood might contain some sickle blood cells, but they generally don't have symptoms. But
they are still carriers of the disease, which means they can pass the gene to the next
generation.
Complications of Sickle Cell Anemia

Sickle Cell Anemia can affect many parts of the body and cause complications. Some of
them are listed below:
● Stroke
Two types of stroke can occur in people who have sickle cell anemia. One occurs if
a blood vessel in the brain is damaged and blocked. This type of stroke occurs more often
in children than in adults. The other type of stroke occurs when a blood vessel in the
brain bursts. These type of stroke can cause problems and lasting brain damage,
long-term disability or paralysis (an inability to move).
● Acute Chest Syndrome
Acute chest syndrome is a life-threatening condition linked to sickle cell anemia. It is
similar to pneumonia. An infection or sickle cells trapped in the lungs can cause acute
chest syndrome. People who have this condition often have chest pain, shortness of
breath, fever and low oxygen levels.
● Pulmonary Hypertension
People with sickle cell anemia can develop high blood pressure in their lungs. This
increase in blood pressure is called pulmonary hypertension. It usually affects adults
rather than children. Shortness of breath and fatigue are common symptoms of this
condition.
● Eye Problems
Sickle cells also can affect the small blood vessels that deliver blood to the eyes. Sickle
cells can block these vessels or cause them to break open and bleed. This can damage the
retinas (thin layers of tissue at the back of the eyes) which later on leads to blindness.
● Leg Ulcers
Sickle cell anemia can cause open sores, called ulcers, on your legs. Some heal quickly,
but others persist for years or come back after healing. These occur mostly in adults than
in children. The cause of sickle cell ulcers is still not clear.
● Hand-Foot Syndrome
Sickle cells can block the small blood vessels in the hands and feet in children (usually
those younger than 4 years of age). This condition is called hand-foot syndrome. It can
lead to pain, swelling, and fever.
● Multiple Organ Failure
Multiple organ failure is rare but serious. It happens if you have a sickle cell crisis that
causes two out of three major organs (lungs, liver, or kidneys) to fail. Often, multiple
organ failure occurs during an unusually severe pain crisis. Symptoms of this
complication are fever, rapid heartbeat and breathing problems.
Hypothesis
Sickle Cell Anemia is an inherited disease. There is currently no cure, so most
treatments aim to treat individual symptoms of the disease. These treatment helps reduce
some of the risks associated with sickle cell anemia. There are some side effects associated
with these treatments however in most cases the potential benefits outweigh the risks.
There aren’t any methods to prevent inherited diseases but it’s possible to gain control
beforehand. Screening for HbS before birth helps in detecting the disease faster and
allows early treatment and control. Recent studies show that carriers of the gene
responsible for sickle cell anemia are less susceptible to malaria as the malaria parasite
multiplies inside normal blood cells. Heterozygous carriers have a selective advantage
over non-carriers as they are more likely to be resistant to malaria and pass on their genes
to the next generation.
Preventions of Sickle Cell Anaemia
Along with adopting healthy lifestyle habits, you can take other steps to prevent
and control painful sickle cell crises. Many factors can cause sickle cell crises. Knowing
how to avoid or control these factors can help you manage your pain.
Some ways by which we can control and manage the pain are listed below:
● Practicing healthy habits such as drinking upto 8 to 10 glasses of water per day
and eating healthy food.
● Go have regular checkups with your doctor.
● Avoid extremely hot and cold temperatures. Wear warm clothes outside in cold
weather and in air-conditioned rooms. Don't swim in cold water.
● Avoid or be cautious in places of high altitudes due to low oxygen levels.
● Avoid jobs that require a lot of heavy physical labor, expose you to extremes of
heat or cold, or involve long work hours.
● Don't travel in airplanes in which the cabins aren't pressurized (i.e., no extra
oxygen is pumped into the cabin). If you must travel in such an airplane, talk with
your doctor about how to protect yourself.
● Take rest and breaks during exercise to reduce your heart rate and avoid heart
strokes.
● Take the medicine hydroxyurea as it increases haemoglobin and decreases the
number of attacks.
● You may want to avoid decongestants, such as pseudoephedrine. These medicines
can tighten blood vessels, which makes it harder for red blood cells to move
smoothly through the vessels.
● Screening for HbS at birth helps to get early control over the disease and prevents
further damage to the being.
● Prevent infections by taking simple steps such as washing your hands.
● Get a flu shot and other vaccines to prevent infections.
● Contact your doctor right away if you have any signs of the symptoms.
● Educating people on Sickle cell anaemia is necessary and vital in this society so as
to prevent further increase in the people living with Sickle cell disease.
Another main point to preventing sickle cell anaemia or any other disease that people
often neglect is the use of alcohol, tobacco and street drugs. They cause addiction and
permanent damage to vital body organs. They also disrupt your life in many ways.
Alcohol: Beer, Wine, Liquor, etc.

Alcohol is a depressant. This means it slows down the function of
the brain. It causes you to urinate more often. This can cause you
to lose too much fluid from your body and in turn makes you
dehydrated.. When a person with sickle cell disease is dehydrated,
the blood cells stick together and block blood vessels. The affected
tissue becomes inflamed, and this causes pain.
Tobacco: Cigarettes, Snuff, Chewing Tobacco, etc.

Tobacco decreases oxygen flow to the lungs. This can affect tissues throughout the body.
It can cause lung infection and permanent lung damage. When you smoke, you have a
greater chance of having the following problems:
● Acute chest syndrome
● Pneumonia (infection in the lung)
● Pulmonary hypertension (increased pressure in lung)
● Stroke, as well as other life-threatening diseases.
The nicotine in tobacco attaches to haemoglobin. This lowers the oxygen level in your
blood and can cause pain. Smoking tobacco increases the risk of cancer in the lungs,
throat, esophagus, bladder, pancreas and kidneys.
Chewing tobacco and snuff release nicotine into your body, which is absorbed by the
lining of the mouth. In general, it can cause bleeding gums, mouth sores, as well as mouth
cancer.
Street Drugs: Marijuana, Cocaine, Crack, etc.

street drugs (those not prescribed by a doctor) can cause health
problems in a person with sickle cell disease. Many of them have
side effects that can worsen the symptoms of the disease.
Even prescription drugs can be harmful if they are not taken as
prescribed by the doctor.
● Marijuana
Smoking marijuana may increase the risk of cancer more than smoking tobacco.
Marijuana smoke contains 50–70 percent more cancer-causing chemicals than
tobacco smoke.
Within a few minutes of inhaling marijuana smoke, a person’s heart begins
beating more rapidly and the eyes appear red. All marijuana effects can severely
hurt the body of a person with sickle cell disease.
● Cocaine
It is a potent stimulant. It can increase heart rate, breathing rate and blood
pressure. Cocaine increases the risk of major organ damage. It can cause stroke or
even death in people with sickle cell anaemia.
● Crack
It is a solid form of cocaine that is smoked. It has the same effect as cocaine in the
body. It also has risks associated with smoking, including shortness of breath,
chest pains, and lung damage. It is highly addictive.
In addition to the above street drugs, using prescription drugs without your doctor's
advice can lead to addiction, severe damage to the body, and even death.

Sickle Cell Anemia

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Sickle Cell Anemia

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Causes of Sickle Cell Anemia

Complications of Sickle Cell Anemia

Alcohol: Beer, Wine, Liquor, etc.

Tobacco: Cigarettes, Snuff, Chewing Tobacco, etc.

Street Drugs: Marijuana, Cocaine, Crack, etc.

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