A Family Doctor's Tale - THALASSEMIA

DOC I HAVE THALASSEMIA

Thalassaemia is an inherited condition caused by defects in the genes that produce the hemoglobin (the red pigment which carry the oxygen  to the body) of red blood cells of patients from childhood.

Thalassemia can cause the breakup of the red blood cells resulting in severe anemia.

Thalassaemia is more common in people from Asia, African and the Mediterranean region.

There are 2 types of Thalassemia:

1.Thalassemia Major is a major illness which is inherited from both parents with the affected thalassemia gene.

The hemoglobin is low and the red blood cells are small and fragile breaking up easily to give rise to severe anemia.

2.Thalassemia Minor is a minor illness which is inherited if only one parent has the affected thalassemia gene.

There is usually mild anemia.

The red blood cells are smaller than normal.

Symptoms of thalassaemia are:

1.Pallor

2.Fatigue

3.Weakness

4.Breathing difficulty

5.Slow growth

6.Jaundice

7.Dark colored urine

8.Bone deformities

Factors that increase the risk of thalassemia are:

1.Family history of thalassemia

2. History of familial Anemia

Diagnosis of Thalassemia is through:

1.Medical history of  thalassemia or anemia

2.Blood tests show a low level of red blood cells.

3.Blood tests can also check on the type of  abnormal hemoglobin present

4.Blood test using DNA analysis can diagnose thalassemia through the presence of defective genes.

Possible complications of thalassemia are:

1.Infection - there is a risk of infection because of the low red blood cells and the breakup of the red blood cells affecting the liver

2.Bone deformities are caused by the expansion of  the bone marrow especially in the face and skull.

The bones are thin and brittle and therefore prone to fractures.

3.Slowed growth rates are present in more severe thalassemia due to the bone deformities

4.Enlarged spleen can occur due to destruction and breakup of a large number of red blood cells

5.Heart problems especially congestive heart failure and abnormal heart rhythms (arrhythmias) may occur  with severe thalassaemia due to low oxygen.

6.Iron overload can occur from frequent blood transfusions especially in the severe thalassemia.

Treatment for Thalassemia is:
For thalassemia minor, no treatment is usually required because there is rarely symptoms

For thalassemia major the patient often require frequent blood transfusions often once a month.

Blood transfusions can lead to high levels of iron in the body which must be removed  through iron chelation therapy(desferrioxamine).

In some cases a bone marrow transplant or a stem cell transplant may help.

Prevention of Thalassemia:

Thalassaemia cannot be prevented because it is a genetic disease.

However if  a family history of thalassaemia is present, genetic counselling before considering a pregnancy is advised.

Prognosis of Thalassemia:

For thalassemia minor, prognosis is very good.

A healthy lifestyle and good diet is important to prevent anemia.

For Thalassemia major, treatment with frequent blood transfusion without excessive iron overload may be able to keep a patient alive up to middle age.