Thalasimia

Question 1

What is the cause

Answer 1

Deletion of 3/4 alpha glob in genes

Question 2

Who gets it

Answer 2

-Anyone with 3/4 alpha gene deletion

Question 3

What are the symptoms/ stages of the disease

Answer 3

Minor deletion: 2 deletions and asymptomatic and mild microcytic anemia
3/4 deletions: splenomegaly, hemolytic and microcytic anemia
4/4 deletions: fetal demise and total body edema

Question 4

How do we diagnose it

Answer 4

Typically very early especially with severe cases

Question 5

How do we treat

Answer 5

Blood transfusions, bone marrow transplant , chelation for high iron levels and reducing high iron foods

Question 6

Can we prevent

Answer 6

Possible with education and genetic counseling but specific couples should not have kids then

Question 7

3 facts

Answer 7

Identified in remains in Thailand from about 4,000 years ago
-1938 identified as a genetic disease
- 1964 shown to prevent malaria