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CHAPTER 17  ■  Hemoglobinopathies and Thalassemias                                   319




                        D                                                      m                    m  -                             m                              m

                                              , m          m              m                            -                       DNA                            m                                 (PCR).

                                                         ,                                   m               ,

                                                                              .                                                Prenatal Diagnosis

                                                                                                                               P                                           m         m                   m
                   Hem oglobin Electrophoresis                                                                                                                    q               SCD. A  DNA     m


                   A                       , L       P                                                      -                                                 m             ,                                    m

                                m                         m                                     SCD                             m                                                 k                   . T        -

                                                m             (F   .     .  ). T        m                                                                                                                       DNA

                                                                 k                                   m       -                                                 m                                     k                   .

                         m                                                           q           ,

                                         k                              m                         .                            Screening of New borns for Sickle Cell Disease

                        I   SCD,     m                                                  %         %                            and Carriers

                   H   S,   %         % H   F,                m      m            H   A .                                      T                      m                                        H   F. T          -

                                                                                                                                               % H   F            % H   A             m        m          .
                   High-Pressure Liquid Chrom atography                                                                        H   F        m                    α-              γ-              . D


                   E                                            k           H                                                           m       ,                                                    β-                -

                   m                                -  x             HPLC      m                                                                                     γ-                       . I           m        m

                   m                               q                         H   A         H   F                                        ,          x m             %                 -α                  γ-

                                                 m                         . T    m                 m-                                   %    β-          .

                                        m                          -                                      -                         S                    SCD                                   m

                                          m                                             m         m                                                     D             C     m     . SCD (H   SS)

                         .                                                                                                               A          Am                                            U

                                                                                                                               S                m
                   DNA Analysis                                                                                                         . W               m                                                       -


                   W                                                                                            -                                                             m                  j                       -

                                       m                         ,            m                                                               m                   ,                      SCD

                                                                                    m             m  . T                                -                           m                             . E

                      m                                                                                                           SCD

                            DNA                                .                                                                                       k

                        T                                                                                                                       . A                                         m         m

                   m            m                   ,                                  ,                  m                         j

                                ,                                 . V                             SCD                                                                .

                                                                                                                                    S                                                  x m                  k                -

                                                                                                                                                                                       SCD. A                       k

                                                                                                                                                                 m    β                  β S       ,

                                                                                                                                                         m                H   F                H   A        H   S.

                                                                                                                               T                            m      H   A         H   S

                                                                                                                                            α                                                   m    β           .

                                                                                                                                    S                                                           m

                                                                                                                                                    . A

                                                                                                                                                                                    k               m                  -

                                                                                                                                      ,                                          m

                                                                                                                                                            . C       m

                                                                                                                                                  m                   .

                                                                                                                                    B                                                                                -

                                                                                                                                  m          m                            ,

                                                                                                                                                                           . A                      m

                                                                                                                                     ,                                                             m
                   FIGURE 17.6  H  m                                                                                                        m       m       . B                            m                k

                         –                           H   .  . Le   lane. A             m x           H   C,                          m

                   H   S,        H   F. Middle lane. C                    m                             k

                               m             H   S        H   F,             H   A (     m                                        m   m                                                              (  .  .,       -
                                             H   S–β             m           H   S HBFH). Right lane.                              k             ,                         ,                         m   ).  S  m

                   C                    m                             k                           H   S, H   F,                                                              m               k    m

                         H   A. (R                 m M  C            KD. Clinical Laboratory                                                             k          m    m             . S       m      m
                   Medicine,            , P                  , PA: L               W      m  & W  k    ,                                                                                                           -

                        ,             m        .)                                                                                                   -                                                                  .
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