HUMAN DISORDER & GENE THERAPY SICKLE CELL ANEMIA

ADIBAH ULFAH BINTI RAMLY 012011110124 CELL BIOLOGY & GENETIC

What is Sickle Cell Anemia?

Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape. (Red blood cells are normally shaped like a disc.)

The Causes?
Cause by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen. Hemoglobin S changes the shape of red blood cells, especially when the cells are exposed to low oxygen levels. The red blood cells become shaped like crescents or sickles. The fragile, sickle-shaped cells deliver less oxygen to the body's tissues. They can also get stuck more easily in small blood vessels, and break into pieces that interupt healthy blood flow.

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.

 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.

Symptoms
Symptoms usually don't occur until after age 4 months. 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 crises can be severe enough to require a hospital stay.

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

Exam & Test

Tests 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

Treatment
Treatment for a sickle cell crisis includes: Blood transfusions (may also be given regularly to prevent stroke) Pain medicines Plenty of fluids Other treatments for sickle cell anemia may include: Hydroxyurea (Hydrea), a medicine that may help reduce 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

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. Sickle cell anemia patients are often unable to find well-matched donors.

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

Is there any way to prevent this disease?

Sickle cell anemia can only occur when two people who carry sickle cell trait have a child together. Genetic counseling is recommended for all carriers of sickle cell trait. About 1 in 12 African Americans has sickle 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 blood cell shape by: Getting enough fluids Getting enough oxygen Quickly treating infections Have a physical exam every 3 - 6 months to make sure that you are getting enough nutrition and activity, and that you are receiving the proper vaccinations. Regular eye exams are recommended.

PREVENTING CRISES It is important to maintain good oxygen levels and to prevent dehydration. The following steps can help prevent a sickle cell crisis: Avoid strenous activities, stress, smoking, high-altitudes, nonpressurized flights, and other events that reduce your oxygen level Always have plenty of fluids with you Avoid too much sun exposure Consider having the child with sickle cell anemia wear a Medic Alert bracelet. Share the above information with teachers and other caretakers, when necessary. PREVENTING INFECTIONS People with sickle cell anemia need to keep their immunizations up to date to prevent illness. Some patients may receive antibiotics to prevent infections.

Gene Therapy for Sickle Cell Anemia

Induced pluripotent stem cells can be grown indefinitely and manipulated to spin off specialized cells of almost any kind. Once the researchers have created the pluripotent stem cells lines, they will replace the defective stretch of the beta globin gene using technique called small homologous replacement and used in gene therapy studies.