Thalassaemia

genetics research assignment~John Simpson

What are the symptoms of thalassaemia? How is it inherited?

Symptoms you can get from thalassaemia are; iron overload, increased risk of infection, bone deformties, it can delay the growth of children and heart problems.

People with severe thalassemia signs and symptons usually happens in the first two years of life. the symptoms may inculde severe anemia, bone deformites(manly with the bones in the face), poor appetite, slowed growth and delayed puberty. it may also inculde dark urine(showing the red bloods cells arebreaking down) and inlarge spleen, liver and heart.

There are two main types of thalassaemia. Alpha thalassaemia and beta thalassaemia.

Alpha thalassemia happens when genes are mutated or missing, related to the alpha haemoglobin. Beta thalassaemia happens when similar genes affect the production of the beta haemoglobin. Alpha and beta thalassaemia both have sub types. Thalassaemia minor and major. To inherit thalassaemia major both parents must have the gene defect. To inherit thalassaemia minor you have to receive the faulty gene from only one parent. A person with this form of the disoreder are carriers and most of the time don't have symptoms.

What are the chance of getting thalassaemia? how many people are affected?

If both of the parents carry thalassaemia minor, their children may have thalassaemia minor, major, or have completely normal blood. There is a 25% chance their child will have normal blood, 50% chance the child will have thalassaemia minor, or a 25% chance the child will get thalassaemia major. Most often people that has Italian, Greek, Middle Eastern, Asian and African ancestry thalassaemia occurs.

An estimated 60-80 million people carry beta thalassaemia trait in the world.

Is there a treatment/ cure for thalassaemia?

Treatment for thalassaemia depends on what type you have and how severe it is. Thalassaemia minor signs and symptoms are usually mild. people with mild thalassaemia usually don't need any treatment. if you do need treatment, you may need a blood transfusion. Particularly after having a baby or after surgery.

Some people who have beta Thalassaemia intermediate might need treatment for iron overload. Most people don't need blood transfusions. People with beta thalassaemia intermediate may have increased digestive absorption of iron.

However there is no cure for thalassaemia major. Treatments must continue for life. Treatment includes regular transfusions to boost haemoglobin levels. These treatments can lead to iron build-up. It can cause serious side effects, such as: heart failure, liver disease and diabetes.

bibliography

-https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/thalassaemia

-https://www.nlm.nih.gov/medlineplus/ency/article/000587.htm

-http://www.healthline.com/health/thalassemia

-http://www.thalassemia.ca/resources/faq-2/

-http://www.mayoclinic.org/diseases-conditions/thalassemia/basics/causes/con-20030316

-http://www.helpthals.org/blog/about_thalassemia.html

http://patient.info/health/thalassaemia-leaflet