THALASSEMIA, CAUSES , TYPES OF THALASSEMIA , SIGN AND SYMPTOM, DIAGNOSIS, TREATMENT ~ Medical diseases and trems ,symptoms causes TREATMENT

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THALASSEMIA, CAUSES , TYPES OF THALASSEMIA , SIGN AND SYMPTOM, DIAGNOSIS, TREATMENT

                                                  THALASSEMIA



             It is an autosomal recessive inheritance disorder characterised by formation of microcytic hypochromic RBC from bone marrow.

CAUSES 

              * It is an inheritance disorder .

                  * Defective gene are found upon autosome .

                  * The gene is recessive .

TYPES OF THALASSEMIA

         1. α{Alpha} Thalassemia-

                  α chain of haemoglobin is absent or abnormal .

            

         2. "β" Thalassemia - 

                    "β" chain of haemoglobin is abnormal or absent. It is more common and more danger.

 SIGN AND SYMPTOME 

          * Clinical sign of anemia .

             * Hepatomegaly and splenomegaly .

             * Haemolytic anemia .

             * Risk of Iron overload .

             * The morphology of RBC is microcytic hypochromic .

DIAGNOSIS

        * History - the disorder diagnose at the time of birth.

           * Physical examination -

                      Yellowish / whitish Discoloration of sclera .

                      Hepatomegaly and splenomegaly by palpation .

          * CBC 

          * Microscopic examination of RBC .

          * Reticulocyte count increase .

          * LFT increase bilirubin  .

          * USG Abdomen 

          * Serum iron level increase 

          * Hb Electrophoresis - confirmatory  test for thalassemia.

TREATMENT 

       1. Temporary Treatment 

                       - Maximum Rest no any heavy exercise .

                               - Avoid outer game 

                               - BT / PCV transfusion .

                               - Monitor iron level before BT. If it is high then chelation therapy done.

                               - There is always risk of iron overload in patient with thalassemia due to multiple blood transfusion.

         2. Permanent treatment- 

                  * Bone merrow transplantation .

 

                              


     

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