human disorder & gene therapy

7/29/2019 Human Disorder & Gene Therapy

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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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