Thalassaemia major

beta thalassaemia


                      The Thalassaemia is the most common genetic disorder on word wide. It is very common in Sri Lanka, too.Thalassaemia is due to inherited defect of globin chain synthesis. There are 2 main type of Thalassaemia.As there is a defect of beta chains, gamma chain synthesis continues beyond the normal range, beyond the neonatal period , producing an increase proportion of HbF ,& Delta chain production increase the HbA2

          In alpha thalassaemia there is reducing rate of alpha chain synthesis.

          In beta thalassaemia there is reduction of  of beta chain synthesis.

Thalassaemia is an imbalance in the production of globin chain in the Hb , due to abnormal or reduced number of one or more of the gobin chains. This result in an excess of other chain, which precipitates withing the red cell membrane, bringing about the cell death within the bone marrow& circulating red cell by spleen. So anaemia occurs due to ineffective erythropoiesis, increase haemolisis and hypersplenism.It make patient pallor dyspnoiec lethargic and growth retardation. The condition is uniformly fatal without regular blood transfusion. It promotes general health , wellbeing and avoid consequences of ineffective erythropoisis.A post transfusion Hb level  of 9.5g\dl.

        Increase extra medullary haemopoesis lead to hepoto spleenomegaly.Usually appendectomy done after 5 ys of age to avoid susceptibility of infection. Child has given pneumococcal , meningo coccal , hepatitis B and HIB vaccines befor splenectony.

        The indications of appendectomy are

         #       Transfusion requirement increase > 300ml\kg\year.

         #       Large spleen high Rick of traumatic rupture.

        #       Hypersplenism.Here WBC< 4000&PLT , 10000.

Desferrioxamine treatment already started, to prevent complications of iron overload. It cheated & allowing to excretions in the urine & stool. IF used appropriately, negative iron balance can achieved. Usually drug started after 10-12 blood transfusions after 2 years of age. Ideally it should be started after checking of serum ferritin level. If it is >1000ng we should start desferrioxamine.

    Complications of iron overload.

Heart – Cardiomyopathy.

Liver – Cirrhosis.

Pancreas = Diabetes mellitus.

Endocrine gland = failure.

Skin = hyper pigmentation.

         Echo done for assessment of cardiac function.

        To reduce allergic reactions , washed red cells has been started.

      Eyes – from slit lamp for lence opacities and retinopathy.

       Ears- from audiogram for hearing defects.            

Following investigations should be done regularly.

Monthly – Weight, height, urine sugar.

Once in 3 months –Skin color, planter

 pigmentation,UUS-liverand spleen. Sexual maturity.

Once in 6 months-Serum iron,TIBC, Serum ferreting.

Annually= Echocardiogram, slit lamp examination, thyroid function test hormone level, hearing assessment.

        Bone marrow transplantation is curative, but it is dream for them because of the financial problems.

     Cost of current management of patient of thalassaemia very much. It will depend on weight of child.Meny countries in the word have initial Thalassaemia screening and control programs. In the Thalasaemia screening program, thalassaemia carrier status should be known to the individuals who are planning to have children or getting married.

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