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What is Thalassaemia?

Understanding Thalassaemia

  What is Thalassaemia?

  How Thalassaemia Occurs?

  How is Thalassaemia Major Treated?

  How Can We Prevent Thalassaemia Major?

  What to Look Forward to In the Future

 

 

1) What is Thalassaemia?

THALASSAEMIA  is an inherited form of anaemia with a wide spectrum of   severity, varying from the healthy to the severely anaemic.

Normal red blood cells contain haemoglobin . An inherited defect in the genes that controlled the production of the haemoglobin results in Thalassaemia.

The two common types in Malaysia are alpha and beta Thalassaemia.

Clinically, there are 2 forms of Thalassaemia:-

 I.      Thalassaemia Trait (Thalassaemia Minor )

In this condition there is usually a mild anaemia with little or no clinical   disability. Most people with Thalassaemia Trait do not know they have it.  Detection is only by a blood test. Their red blood cells are smaller          and there is  slightly more  of type haemoglobin A2. Thalassaemia Trait is present at birth , remains the same for life and can be passed on from  parents to children, ie it is inherited.

II.      Thalassaemia Major

This is a severe condition in which very little or no haemoglobin A2 is      synthesized. Children with Thalassaemia Major are normal at birth but          become anaemic between the age of 3 months and 18 months .If they are not treated , they usually die between age  between one and eight years of age.

 

2) How Thalassaemia Occurs?

If one parent has Thalassaemia Trait, there is a 50%  chance  that their children will have Thalassaemia  Minor.

 

                       

If both parents have Thalassaemia Trait, in each pregnancy there is a 25%  chance that their children will have normal blood, 50%  chance of being  Thalassaemia Minor and a 25% chance of being a  Thalassaemia Major .

 

                       

 

3) How is Thalassaemia Major Treated?

The main objective of treatment is to reduce or avoid the complications of the disorder.

a)      Transfusion of packed red blood cells

Since Thalassaemics  are short of red blood cells, regular blood transfusions, usually every 3-4 weeks help to keep the haemoglobin within the normal range. Blood transfusion  lets the bone marrow rest so that the bones can develop normally. It also slows down any increase in the size of the spleen. Leucocyte filters must be used for each transfusion to remove white cells from the donor   blood otherwise Thalassaemics will develop reactions during the transfusion.

b)      Iron Chelation Therapy

With frequent transfusions, the iron from the red blood cells tends to accumulate   in the body and cause damage especially to  the liver, heart and the endocrine glands. To remove the extra iron from the body ( iron chelation therapy ) , injections of Desferrioxamine ( Desferal ) are administered under the skin from a small pump 5-7 nights per week. Desferal will carry the iron out in the urine. However, this form of treatment is unpleasant and often upsetting. Children  treated with blood transfusions and Desferal will grow and lead fairly normal lives. With proper treatment , they will be able to work, marry and have children.

Another alternative of iron chelation is L1 ( Deferiprone ) which is taken orally,3 times a day. Some of our Thalassaemics are on a combination therapy of Desferal and L1.

Thalassaemics are on  L1 require regular blood test monitoring

GOALS OF CHELATION THERAPY

        S/C desferral at least 5x/week  8-12 hours infusion                                               

        L1  75mg-100mg/kg daily

        combination therapy

        Aim for serum ferritin <1000 ug/l       

>2500 ug/l increase risk of cardiac complications.

TYPES OF TESTS AND FREQUENCY FOR A THALASSAEMIC ON CHELATION THERAPY?

n      MONTHLY         Full blood count, neutrophil count for those on L1

n      3 MONTHLY             Weight and height, Serum ferritin, Kidney and liver function,  Blood sugar

n      Yearly cardiac assessment

n      Yearly viral screen

n      Yearly hormone levels, glucose tolerance test, DEXA scan

n      Yearly hearing & eye test (Desferral)

 

c)      Splenectomy

Due to increasing activity and trapping of the red blood cells, a gradual enlargement of the spleen usually occurs. Transfusions become less effective. Thus doctors may advise  take the spleen out ( splenectomy )

 

 

 

4) How Can We Prevent Thalassaemia Major?

The incidence of Thalassaemia can be reduced if  people with Thalassaemia Trait are aware of their condition. It is advisable for immediate family members ( parents, siblings, children ) of Thalassaemics to go for a blood test to determine their status. The diagnosis is confirmed by a blood test called  Haemoglobin Electrophoresis.

Couples who suspect that they could be at risk can undergo early intrauterine diagnosis of Thalassaemia .

To find out more, ask your doctors to arrange for you to visit a genetic counselor.

 

 

5) What to Look Forward to in the Future?

n      T2*MRI - currently not available in Malaysia

n      New oral chelator ICL670, Daily dosing, generally well tolerated,  No agranulocytosis

n      Better treatment for hepatitis         Pegasys / ribavirin