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CHAPTER 17  ■  Hemoglobinopathies and Thalassemias                                   325




                                  H   F. T                      H   A                                                           x                                        m                             m

                      β-                       .                                                                                       . PCR                                                    m    m

                        H        z           β              m                      m     k                                                           . U                         m       m

                   m                                    m                                        m     .                             m                . PGD                         x                HLA      -

                   O                                                                   MCV,                                                m                         . T

                   H   A                              ,                            m                  .                         m                                                      m                  m

                                .      mm    z                                               SCD,                                                   m-

                       k                 ,                    m   .                                                                     m      m   . S  m

                                                                                                                                                         m                 .

                   Prenatal Diagnosis
                                                                                                                               New born Screening
                   P                               β             m

                                  m                                                                                            H              ,                                         m

                        DNA                   PCR                         m                        -                                                                          β             m    m  j   . I

                          . L      ,                m                                                                          U         S       ,                                      m      α-            m

                       m                                                                          m  -                                     , H  H                H  H CS       H  E

                            . T                m              m                                         -                             m                                      z    .

                                          m   -   m                                                                                                       m

                                    -   -          (β/α)                            .                                           x                   m

                        B                                           , m                                                           m                                   U         S       .

                           m                                         m                          -   k                               I                         m                                          ,       m

                              . P    m                                             (PGD)                                                                             m    m        HPLC     IE

                           m                                                z        ,                                                             -                 q         m  k              m                -
                                                                                                                                                                                 m                      . I  H  H

                                                                                                                                            ,                  q


                                                Summary of Selected Laboratory                                                 H    B    ’

                       TABLE         17.4                                                                                       x                                                  q                 -          -
                                                Findings in Hemoglobinopathies
                                                                                                                                    . P   m


                       Disorder                      Test                             Result                                                             m .
                                                                                                                                    I                  m                        ,                         m

                       SCD                           Hemoglobin                       Decreased                                                                                                     q                      -


                                                     PCV                              Decreased                                                                          m                        .  S         -

                                                     Erythrocyte count                Decreased                                                         m                                                               β
                                                                                                                                           m    m  j        m hereditary                                   m  -
                                                     Hb S                             Signi  cantly                                      (HPFH), H  Eβ             m        m H  EE,        H  H

                                                                                      increased                                               m α             m          . G      m    m


                                                     Hb A                             Decreased

                                                     Hb F                             Increased                                                           .


                       Sickle cell trait             Hemoglobin                       Normal
                                                                                                                               Treatm ent

                                                     PCV                              Normal
                                                                                                                               M                                        m                        m                   -

                                                     Erythrocyte count                Normal                                        m                                                             . T          m

                                                     Hb S                             Increased                                                         m         m


                                                     Hb A                             Slightly decreased                                                                                   m
                                                                                                                                                                  x              . I                                 m   ,
                                                     Hb F                             Normal or slightly                                                                        q

                                                                                      increased
                                                                                                                                      m                           m                                             -

                       Homozygous β                  Hemoglobin                       Decreased                                   m.                 m                   m,                               m

                       thalassemia                                                                                                   . T

                                                     PCV                              Decreased                                              :


                                                     Erythrocyte count                Decreased                                ■                     (                    N       Am


                                                     Hb S                             Negative                                                                 )

                                                     Hb A                             Signi  cantly                            ■            x  m


                                                                                      decreased                                ■                 x (                                     )

                                                     Hb F                             Increased                                     T       m                                                        x  m

                                                                                                                                                                       m
                       PCV packed cell volume.
                            ,
                                                                                                                                          ’  q                   .
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