Sickle Cell

AnemiaDr. Rafi Ahmed GhoriFCPS

Professor Medicine

Liaquat University of Medical & Health Sciences, Jamshoro

What We Will Learn?• What sickle cell anemia is.

• Who worked to understand sickle cell anemia.

• Who is affected by sickle cell anemia.

• What the symptoms of sickle cell anemia are.

• What the causes of sickle cell anemia are.

• What the effects of sickle cell anemia are.

• If there is a cure for sickle cell anemia.

What is Sickle Cell Anemia?

Sickle Cell Anemia• Sickle cell anemia is a genetic disorder of

the blood in which the red blood cells curve into a sickle shape due to hemoglobin S.

• This shape change blocks them from going through tiny blood vessels (capillaries) and they clot your blood or break. If they break, it leads to a insufficient amount of red blood cells, or anemia.

Who Worked to Understand Sickle Cell Anemia?

William Warrick Cardozo• Lived from 1905-1962

• In 1937 he concluded that the disease is inherited and almost always occurs in people of African descent.

• His works were published in the Archives of Internal Medicine as “Immunologic Studies in Sickle Cell Anemia.”

Max F. Perutz• He constructed a model of hemoglobin

that later helped prove how the molecule’s structure changes when it reacts with oxygen.

• His work helped explain why the change in hemoglobin’s shape causes the red blood cells to sickle and lessen their oxygen-carrying capacity.

Who is Affected by Sickle Cell

Anemia?

Carriers of Sickle Cell Anemia

• Everybody can inherit the sickle cell trait if both their parents have the trait.

• Hemoglobin S is particularly common in African Americans, about 8 to 12% have the trait.

• The trait is also common in people from Mediterranean countries, the Middle East and India.

Carriers (continued)• Hemoglobin S is common in the

populations mentioned due to the fact that carries of sickle cell anemia are more likely to live through a case of malaria.

• Because of this, more and more of those populations are getting the sickle cell anemia trait from their parents.

What are the Symptoms of

Sickle Cell Anemia?

Symptoms of Sickle Cell Anemia

• Symptoms may appear as early as 6 months of age.

• Early symptoms include serious infections, pain and swelling of the hands and feet, and enlargement of the abdomen and heart.

What Are The Causes of Sickle Cell Anemia?

Causes of Sickle Cell Anemia

• Sickle cell anemia is caused by the hemoglobin S gene.

• Both parents must have the trait for there to be a chance of their child getting sickle cell anemia.

• If you have one hemoglobin S, and one hemoglobin A (hemoglobin AS) you will NOT get sickle cell anemia, because it is a recessive trait.

Causes (continued)• If and when you get sickle cell anemia,

the hemoglobin S gene causes the red blood cell to sickle when it gets rid of a large amount of oxygen.

• The hemoglobin S causes long, rigid rods to form in the red blood cell when it gives away oxygen. That is why the cell sickles.

What Are The Effects of Sickle

Cell Anemia?

Effects of Sickle Cell Anemia

• There are 13 main effects of sickle cell anemia. They are:

– Pain episodes

– Insufficient amounts of red blood cells (anemia)

– Strokes

– Increased infections

– Leg ulcers

– Bone damage

Effects (continued)– Yellow eyes or yellowish skin

– Early gallstones

– Lung blockage

– Kidney damage

– Blood blockage in the spleen or liver

– Eye damage

– Delayed growth

Is There a Cure For

Sickle Cell Anemia?

Treatment for Sickle Cell Anemia

• There is no definite cure for sickle cell anemia, but you can get it treated.

• All treatment of sickle cell anemia is geared toward preventing infection, reducing organ damage, and minimizing all pain or discomfort.

• If you are diagnosed early, some of the effects like severe infections, can be prevented with antibiotics and vaccinations.

Treatment (continued)

• Daily treatment with the cancer drug hydroxyurea has been proven to reduce the number of pain episodes and the severity of the anemia.

• Regular blood transfusions help restore the number of red blood cells, and make it less likely that you will have a stroke.

Treatment (continued)

• The only proven cure worked on but a handful of small children.

• These children were able to find an acceptable bone marrow donor.

• This new bone marrow was able to produce new red blood cells that didn’t carry the sickle cell anemia trait.

Thank you for watching.