Question 1

what exactly is thalassemia?

Accepted Answer

See below: Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia.

Question 2

how is thalassemia inherited?

Accepted Answer

From Mom and/or Dad: Alpha thalassemia is caused by a mutation in one or more of the 4 genes that code for (holds the dna for) Alpha globulin, which is needed to make hemoglobin for new red blood cells. Beta thalassemia is caused by a mutation in one or both of the 2 beta globulin genes. Mom and/or dad can carry the mutations. A child can inherit a mutation from mom, from dad, or from both mom and dad.

Question 3

how was thalassemia discovered?

Accepted Answer

Microscope: Thalassemia causes microcytic anemia - tiny red blood cells.

Question 4

is thalassemia fatal?

Accepted Answer

Generally, no....: But chronic anemia can have long term consequences, as can transfusion support that is often needed for patients with more  severe phenotypes. There is one thalassemia syndrome that is incompatible with life without intervention, and that is a 4-gene deletion Alpha thalassemia. Patients with thalassemia syndromes particularly those requiring transfusions, should be followed by a hematologist.

Question 5

is thalassemia curable?

Accepted Answer

Bone marrow trnsplnt: The cure for thalassemia major is through bone marrow transplantation, either from umbilical cord blood stem cells or from donor bone marrow stem cells. Thalassemia minor is a mild form of the disease, so a transplant would not be needed.

Question 6

is thalassemia treatable?

Accepted Answer

By blood transfusion: In thalassemia patients who are very anemic, and have symptoms from their anemia, periodic transfusions is the usual treatment. If they have had many transfusions, their bodies will get iron overload from the past transfusions (chelation therapy to remove iron may be needed). The cure for thalassemia major is through bone marrow transplantation.

Question 7

what is beta thalassemia?

Accepted Answer

Beta thalassemia: is a genetic defect of impaired hemoglobin production, resulting in a varying degree of anemia.

Question 8

what is trait thalassemia?

Accepted Answer

Ok: Thal trait is different from thal major--the trait has one chromosome for this disease and the full disease means each parent gave the  trait and that the child got a thalassemia gene from each parent which can cause thal major, a very serious and transfusion requiring process.   There are different types of thalassemia--some more concerning than others.  Please ask your doctor.

Question 9

is there a cure for thalassemia?

Accepted Answer

Bone marrow trnsplnt: The cure for thalassemia major is through bone marrow transplantation, either from umbilical cord blood stem cells or from donor bone marrow stem cells. Thalassemia minor is a mild form of the disease, so a transplant would not be needed.

Question 10

does thalassemia alpha shorten life?

Accepted Answer

Depends: There are four grades of severity of alpha thalassemia. Lack of one or two genes would not affect the life span. Lack of three genes may alter health and life span. Lack of all four genes is generally not compatible with life.
For good health - Have a diet rich in fresh vegetables, fruits, whole grains, milk and milk products, nuts, beans, legumes, lentils and small amounts of lean meats. Avoid saturated fats. Drink enough water daily, so that your urine is mostly colorless. Exercise at least 150 minutes/week and increase the intensity of exercise gradually. Do not use tobacco, alcohol, weed or street drugs in any form. 
Practice safe sex, if you have sex. 
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