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CHAPTER 14  ■  Disorders of Iron Metabolism and Heme Synthesis                                      271




                                             k                 HLA-A                      m     m                              T                                            HH        m

                         . E   m                                                                                                             SF                                                         /mL.

                                                                                             m  z                                   SF

                              k                                                     m .                                                       ,

                    T                                            HLA-A                         m                                      . A                  SF

                        HFE.            mm     m                       HFE         , C282Y                                                  ,                                             x                            ,

                              H63D,                               HH. I                                                        m               ,       x                               k  . SF                  -

                                                .                                                                                            (         -                     )                                             -

                    T                                                                    m     m                                                                   HH.

                                                                                                            .                       G

                        M           m          q                        .                                                              . T                                m     S        SF

                    A                                     HFE          m                            -                                                                  .

                                                   m             m                                                                  A                      m                 m

                                                                                                      k                                                                                   m         m        ,

                                   m       -               ,           m    m z               k                                           m                                                             ,

                                                        IDA.                                                                        ,

                    .  Hemochromatosis   ype 2: Juvenile hemochromatosis.                                                                              . F         m     ,                                z

                            x                                      .                                                                        ,                                    m

                                               m                       HJV         ,                                                                 . T    ,                              m

                                                 m     m     q    .                                       m  -                      m                                                                     m

                        z                    m                                           m                   -                                                     S          . I                                        -

                                       ,                                       m     m       q    .                                                                 %

                    H  m  j                                   x                         ,   k                                                                                                                           ,

                        m        ,                      . M  m              m  j                                                                                                  HH                               %. A

                        m                                                        .                                                                         m                      .

                            HAMP                                                  . M

                                                         m  j                      j                 m         -               Treatm ent

                        m                                      z                                                                      m                                                                          m

                                                        . N                                                                                                           .  R  m                             (        mL)

                                    m   k     j                 m         m        .                                                                                          k

                    .  Hemochromatosis   ype 3: Mutation o    rans errin receptor                                                    m                 -    m m                                    HH              -

                        2 (   R2) gene. T                            m                                                                    m                               m                     m             .

                                                   m        . T        m                                                       E                                                   x m                m             . I

                        m                  FR  ,                                                                                                                  -                        m   ,

                         ,                    m            m     m    q  . I                                                                                               m       .



                                          .

                    .  Hemochromatosis    ype  4:  Mutations  o   Ferroportin-1                                                DISORDERS RELA  ED   O HEMOGLOBIN

                        gene. I                       ,                                                                        BIOSYN  HESIS: HEME (PORPHYRIN)

                        SLC40A1                                                                          .                     SYN  HESIS

                        A                           m         m

                                               m      . T        m                                                             D                                                        (F   .     .  )

                            m                                                                    m                                 m   m         m                                           q        . I

                           m                                                                                                                                              m                                 ,       -

                            m                       MPS. T        m                                                                                                           .

                             k      k                 HLA         .                                                                 A  q                                                         ,

                                                                                                                                  m                                        . I                   ,
                   Pathophysiology and Laboratory Characteristics                                                                              z  m   ,                     m                   ,  m                  -


                   HH               m                                                              x                                                                       ,                 ALA     PBG

                                          . T        m                                                  -                                                   m  . N                           m

                                                                         m         . A                                                  m                                       ,             q                ALA

                                         m         m                                                      -                                   m         x                m       m

                                                               x            m                                                                                                  .

                                                   ,                                                  ,   x                         P                                                                m    m            m

                                  m                                               m             m.                                                  m               m

                        A                                                           -                                                         x                    m                     x

                          m           HH                 m                                        /  L.                                                                               /                   .
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