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HUMAN DISORDER & GENETHERAPY
SICKLE CELL ANEMIA
ADIBAH ULFAH BINTI RAMLY
012011110124CELL BIOLOGY & GENETIC
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What is Sickle Cell Anemia?
Sickle cell anemia is a
disease passed down through
families in which red bloodcells form an abnormal
crescent shape.
(Red blood cells arenormally shaped like a disc.)
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The Causes?
Cause by an abnormal type of hemoglobin calledhemoglobin S. Hemoglobin is a protein inside redblood cells that carries oxygen. Hemoglobin Schanges the shape of red blood cells, especially
when the cells are exposed to low oxygen levels.The red blood cells become shaped like crescentsor sickles.
The fragile, sickle-shaped cells deliver less oxygen
to the body's tissues. They can also get stuckmore easily in small blood vessels, and break intopieces that interupt healthy blood flow.
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Sickle cell anemia is inherited from both parents. If
you inherit the hemoglobin S gene from one parent
and normal hemoglobin (A) from your other parent,you will have sickle cell trait. People with sickle cell
trait do not have the symptoms of sickle cell anemia.
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Sickle cell disease is much more common in
people of African and Mediterranean descent.It is also seen in people from South and
Central America, the Caribbean, and the
Middle East.
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Symptoms
Symptoms usually don't occur until after age 4months.
Almost all patients with sickle cell anemia have
painful episodes (called crises), which can last
from hours to days. These crises can affect the
bones of the back, the long bones, and the chest.
Some patients have one episode every few years.
Others have many episodes per year. The crisescan be severe enough to require a hospital stay.
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Common symptoms include:
Attacks of abdominal pain
Bone pain
Breathlessness
Delayed growth and puberty Fatigue
Fever
Paleness
Rapid heart rate
Ulcers on the lower legs
Yellowing of the eyes and skin (jaundice) Other symptoms include:
Chest pain
Excessive thirst
Frequent urination
Painful and prolonged erection
Poor eyesight/blindness
Strokes
Skin ulcers
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Exam & TestTests commonly performed to diagnose and monitor patients with sickle cell
anemia include: Complete blood count (CBC)
Hemoglobin electrophoresis
Sickle cell test
Other tests may include:
Bilirubin
Blood oxygen
CT scan or MRI
Peripheral smear
Serum creatinine
Serum hemoglobin Serum potassium
Urinary casts or blood in the urine
White blood cell count
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Treatment
Treatment for a sickle cell crisis includes:
Blood transfusions (may also be given regularly toprevent stroke)
Pain medicines
Plenty of fluids
Other treatments for sickle cell anemia may include:
Hydroxyurea (Hydrea), a medicine that may helpreduce the number of pain episodes (including chest
pain and difficulty breathing) in some people Antibiotics to prevent bacterial infections, which are
common in children with sickle cell disease
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Treatments for complications of sickle cell anemia may include:
Kidney dialysis or kidney transplant for kidney disease
Drug rehabilitation and counseling for psychological complications
Gallbladder removal in those with gallstone disease
Hip replacement for avascular necrosis of the hip
Treatments, including surgery, for persistent, painful erections(priapism)
Surgery for eye problems
Wound care, zinc oxide, or surgery for leg ulcers
Bone marrow or stem cell transplants can cure sickle cell anemia.However, they are current not an option for most patients. Sicklecell anemia patients are often unable to find well-matched donors.
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Possible Complications Acute chest syndrome
Anemia
Blindness/vision impairment
Brain and nervous system (neurologic) symptoms and stroke
Death
Disease of many body system
Drug (narcotic) abuse
Erectile dysfunction
Gallstones
Hemolytic crisis
Infection
Joint destruction
Leg sores (ulcers)
Loss of function in the spleen
Parvovirus B19 infection
Splenic sequestration syndrome
Tissue death in the kidney
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Is there any way to prevent this
disease?Sickle cell anemia can only occur when two people who carry sicklecell trait have a child together. Genetic counseling is recommended forall carriers of sickle cell trait. About 1 in 12 African Americans hassickle cell trait.
It is possible to diagnose sickle cell anemia during pregnancy.
If you have sickle cell anemia, you can prevent the change in red bloodcell shape by:
Getting enough fluids
Getting enough oxygen
Quickly treating infections
Have a physical exam every 3 - 6 months to make sure that you aregetting enough nutrition and activity, and that you are receiving theproper vaccinations. Regular eye exams are recommended.
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PREVENTING CRISES
It is important to maintain good oxygen levels and toprevent dehydration. The following steps can help preventa sickle cell crisis:
Avoid strenous activities, stress, smoking, high-altitudes,nonpressurized flights, and other events that reduce youroxygen level
Always have plenty of fluids with you
Avoid too much sun exposure
Consider having the child with sickle cell anemia wear aMedic Alert bracelet. Share the above information withteachers and other caretakers, when necessary.
PREVENTING INFECTIONS
People with sickle cell anemia need to keep theirimmunizations up to date to prevent illness.
Some patients may receive antibiotics to prevent infections.
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Gene Therapy for Sickle Cell Anemia
Induced pluripotent stem cells can be grownindefinitely and manipulated to spin offspecialized cells of almost any kind.
Once the researchers have created thepluripotent stem cells lines, they will replacethe defective stretch of the beta globin geneusing technique called small homologousreplacement and used in gene therapystudies.
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