Thalassemia


Description: People with thalassemia minor have anemia with no symptoms.
Thalassemia major people have severe symptoms of anemia. May have jaundice, skin ulcers, and gallstones. People may have enlarged spleens and overactive bone marrow that enlarges and thicken bones. Children who have thalassemia may grow more slowly and reach puberty later because iron absorption may be increased.

Inheritance: Parents who carry the mutated thalassemia gene can pass it on to there child.
A child who has one mutated gene is known as a carrier. Both parents must be carriers and both pass the mutated gene in order for the child to have the disease. This disease is autosomal recessive. That means both parents are carriers and that one mutated gene from each parent cause thalassemia.



Symptoms:
· People may have minor to major symptoms.
· Slowed growth and delayed puberty.
· Bone problems. Bone marrow expanding causing wider bones that fracture easier.
· Enlarged spleen. The spleen is an organ that fights infection and remove unwanted material. The spleen works harder making it larger and if it gets to large it has to be removed.



Daily Life:





Diagnosis: Doctors diagnose thalassemia with blood tests, including a blood count. They can tell because someone with thalassemia has less healthy red blood cell and less hemoglobin than normal red blood cells. Usually mild to severe thalassemia is diagnosed in early child hood due to signs of it such as severe anemia that occurs in the fist two years of life.



Treatment: There is no cure for thalassemia but there are actions to make a better life for a child. There are blood transfusions as a treatment plan. Taking iron chelation medication but can take a long time and can be painful. It can stop iron overload which is when iron builds up and can damage the heart, liver, and other organs. Taking folic acid supplement if a doctor prescribes them which helps build healthy blood cells.



Research: There is no prevention because thalassemia is inherited. They can detect these disorders with prenatal tests. They found that fetal hemoglobin can help reduce the severity of thalassemia. They’re studying a way to enhance production of the fetal hemoglobin. They’re also researching gene therapy. They believe they will be able to inject a normal gene in place of the bad gene inside an unborn baby.


Additional Facts:
The ethnic group that thalassemia runs in is usually African American, Asian, and middle eastern.

Chances in ethnic groups.
· Europe- 4-12%
· Middle east and western Asia- 12-50%
· Southeast Asia- 6-75%
· South America and Caribbean- 7%
· Africa- 11-50%

People with thalassemia
85% Asian
4% Caucasian
11% other ethnic group (African, mixed, ethnics unknown




Punnett Square:


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Pedigree Chart:

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Resources:

http://www.merckmanuals.com/professional/sec11/ch131/ch131m.html?qt=thalassemia&alt=sh
http://blood.emedtv.com/thalassemia/thalassemia.html
http://www.nhlbi.nih.gov/health/dci/Diseases/Thalassemia/Thalassemia_WhatIs.html