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My genetic disease project. Enjoy! If you can...

Emily Osborne

on 11 April 2011

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Transcript of Thalassemia

Thalassemia Emily Nannneman What is Thalassemia? Thalassemia is a group of genetic blood disorders. It is identified by decreased or no amounts hemogoblin. Definitions Hemoglobin—- Protein-iron compound in the blood that carries oxygen to the cells and carries carbon dioxide away from the cells. It is made from two similar proteins, Alpha and Beta, that "stick together". Two main groups of Thalassemia Alpha and Beta

Alpha Thallassemia Beta Thalassemia There are four different types of alpha thalassemia. Some of these are then divided into sub-types. Alpha thalassemia occurs when a person's hemoglobin does not produce enough alpha protein. The lack in the alpha protein is so small that this condition causes no health problems.

It is normally not detected until a supposedly normal person has a child with alpha thalassemia. Hemoglobin Constant Spring: Silent Carrier An atypical form of silent carrier state.

Its cause is a mutation of the the alpha globin.

Usually causes no health problems. Alpha Thalassemia Trait Hemoglobin H Disease Alpha Thalassemia Major The lack of alpha protein is slightly larger.

People who have this have smaller red blood cells and and mild anemia.

Only a few people experience symptoms from this disease. Anemia- A condition in which there is an abnormally low number of red blood cells in the bloodstream. It may be due to loss of blood, an increase in red blood cell destruction, or a decrease in red blood cell production. There is a severe lack of alpha protein.

This causes serious anemia and health problems. Some health problems include an enlarged spleen, bone deformities, and fatigue. Hemoglobin H-Constant Spring This is even more severe than hemoglobin H disease.

Sufferers' anemia is even more serious, and they experience greater enlargment of the spleen and viral infections.
Homozygous Constant Spring This is a variation of hemoglobin H constant spring.

It occurs when two constant spring carriers pass their genes to their child.

It is normally less severe then hemoglobin H constant spring and more similar to hemoglobin H disease. There are no alpha genes.

This causes the gamma globins to form an irregular hemoglobin.

Most people with this condtion die before or shortly after birth. Globin- One of the component protein molecules found in hemoglobin. Normal adult hemoglobin has a pair each of alpha-globin and beta-globin molecules. Hydrops fetalis- A serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. In very rare instances, the condition is discovered before birh.

Blood transfusions in the uterus will allow the children to be born.

Downside: they have hydrops fetalis.

Requires lifelong medical care and blood transfusions. Baby with hydorps fetails Beta thalassemia occurs when a person's hemoglobin does not produce enough beta protein. Better known type of thalassemia. Also called Cooley's anemia. There are three types of beta thalassemia. Thalassemia Minor Thalassemia Intermedia Thalassemia Major or Cooley's Anemia Lack in beta protein is small.

Does not cause health problems except for, maybe, mild anemia.

Will also carry the genetic trait for thalassemia.

Causes fairly severe anemia.

Heath problems such as bone deformities and an enlarged spleen.

Difference between intermedia and major thalassemia is small. The difference is the amount of blood transfusions required.

People with thalassemia intermidia do not need blood tranfusions to live, but rather to improve their life. Most severe form of beta thalassemia.

Missing the beta protein.

Life threatening anemia.
Requires ongoing medical care and frequent blood transfusions.

The excessive blood transfusions lead to iron-overload.

Treated with chelation therapy.

Prevents early death from organ failure. Chelation therapy- Removes heavy metal from the body. Once injected into the blood chelation agents bind with the metal and allow them to to pass through the body in the urine. Inheritance All types of thalassemia are recessively inherited. The type of thalassemia the offspring gets is influnenced by the type of thalassemia mutation inherited from the parent. Other genetic and enviromental factors also determine what type of thalassemia the offspring will have. Few exceptions, mainly in beta thalassemia. Globin mutation could be dominant. Alpha Beta Located on chromosome 16 One of the most common genetic disorders in the world. Located on chromosome 11 Exactly 100 genetic mutations that cause beta thalassemia. How Many People Have This disease? Thalassemia is found worldwide. In some places in the world it is more commonly found. Alpha thalassemia can be commonly found in Africa, the Middle East, India, Southeast Asia, and southern China. Beta thalassemia is found in people who descend from Mediterranean backrounds, such as Italians and Greeks. 1 in 272,000, or roughly 200,000 people, in the United States have thalassemia. Not an accurate count of people worldwide who have thalassemia because its occurrence is not tracked in less developed nations. You cannot prevent thalassemia. If you think you might be a carrier then you can get your blood tested. Symptoms Anemia Enlarged spleen Fatigue Viral Infections Bone Deformities Diagnosis There are three tests used to diagnose thalassemia. Complete blood count- identifies low levels of small red blood cells and other red blood cell abnormalities. Paleness Delayed growth Increased risk of fractures Yellow discoloration of the skin and whites of eyes (jaundice) Hemoglobin electrophoresis- A test that helps to identify the quantities and types of hemoglobin produced. Free erythrocyte-protoporphyrin Newborns can have their blood tested for thalassemia.

It's called thalassemia screening. Two to three table spoons of the fluid surrounding the baby is removed.

The fetal cells that are found in the fluid are then tested for genetic abnormalities. Chorionic villus sampling (C.V.S.) is offered at ten weeks into the pregancy. Thalassemia can be diagnosed before birth. C.V.S. is when you remove a sample of the placenta and test the cells. Amniocentesis is offered at fifteen to twenty-two weeks. TREATMENT People who have thalassemia must recieve regular blood tranfusions. This helps prevent serious anemia and helps normal growth and development. Bone marrow transplants replace affected bone marrow with unaffected marrow. A medication to get rid of excess iron is desferoamine. The medicine is taken five nights a week over a peroid of several hours. Day to Day Life Not very different from most people's lives. May have to recieve blood transfusions often. If it's a more serious form of thalassemia, there may be some limitations, mostly physical. If successful, it could serve as a cure.
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