Sickle cell Disease Definition ,Etiology ,pathophysiology , symptom ,diagnosis , Management treatment ~ Medical diseases and trems ,symptoms causes TREATMENT

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Sickle cell Disease Definition ,Etiology ,pathophysiology , symptom ,diagnosis , Management treatment



 DEFINITION

                         It is an autosomal recessive inheritance disorder characterized by production of sickle shaped RBC from bone merrow.

ETIOLOGY 

                    It is an inheritance disorder . the defective gene found upon autosome . the gene is recessive.

PATHOPHYSIOLOGY

                 The 6 number amino acid glutamic acid of beta chain of haemoglobin are replace by valine amino acid which result defective beta chain synthesis .

                                                               

                            Defective globin synthesis .

                                                                ↓

                                         Defective haemoglobin synthesis .

                                                                ↓

                                        Production of sickle  shaped RBC.

CLINICAL MENIFESTATION 

                       * Clinical feature of anemia  

                       * Haemolytic anemia .

                       * haemolytic jaundice .

                       * Splenomegaly ,

                       * Hepatomegaly .

                 * HAND AND FOOT SYNDROME  

                                   It is condition characterized by pain and cyanosis in extremities due to ischemia which develop due to obstruction all small branch of artery by sickle shaped RBC.

THE LIFE SPAM OF SICKLE SHAPED RBC IS 10 DAYS.

                * SICKLING → Normal RBC change into the sickle shaped RBC.


DIAGNOSIS

          * History - The disorder is commonly diagnose at the age of 6 month because up to the 6 month the baby have high amount of haemoglobin-F .

          * Physical examination - Yellow ness of skin ,sclera , hepatomegaly, splenomegaly.

          * CBC TRBC ↓es ., Hb ↓es , PCV ↓ es 

          * Reticulocyte count increased .

          * USG .

          * LFT.

          * Microscopic examination .

          * Hb- electrophoresis - confirmatory test.

MANAGEMENT

   TEMPRERY MANAGEMENT -

           - BT or PCV  transfusion. 

           - To prevent the sickling .

           - Advice / Precaution 

                                        - Maintain maximum  rest .

                                        - Avoid heavy exercises/ outer game .

                                        - Avoid to go in hilly area .

                                        -Avoid play in hot weather .

                                        - Prevent himself from infection .

permanent treatment 

                                 Bone merrow transplant or hematopoietic stem cell transplant .

  

                                       

              

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