Understanding the Genetic Basis of Inherited Bone Marrow Failure ...
Understanding the Genetic Basis of Inherited Bone Marrow Failure ...
Understanding the Genetic Basis of Inherited Bone Marrow Failure ...
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144 ชาญชัย ไตรวารี และ ปยะ รุจกิจยานนทตาราง ที่1 สรุป อาการ แนว ทาง การ วินิจฉัย และ ยีน ที่เกี่ยวของ ใน<strong>Inherited</strong>marrowfailuresyndromesDisease Inheritance Diagnostic testGene (approximate %<strong>of</strong> patients with defect)FAMostly autosomal recessive,RareX-linkedrecessiveChromosomal DEB/MMCbreakage testFANCA-FANCM (>99%)DCX-linked, autosomal dominant,autosomal recessive, unknownTelomere length (research)DCK1 (40%)TERC (5%)TERT (2%)Unknown (~50%)SDS Autosomal recessiveTrypsinogen, IsoamylaseSBDS (90%)DBA Autosomal dominanteADARSP19 (25%)SCNAutosomal dominantELA2 (60-80%)CAMTAutosomal recessiveAmegakaryocytic marrowHigh serum thrombopoietinc-Mpl (100%)TARAutosomal recessiveAmegakaryocytic marrowNormal thrombopoietinUnknown<strong>Bone</strong> marrowfailure> 90%80%20%Can developno% <strong>of</strong> patients withhematological malignancies~30% by age 4010%30% by age 301%40% <strong>of</strong> nonresponders to G-CSFafter 10 years <strong>of</strong> <strong>the</strong>rapyAML/MDSAML (4 cases reported)Solid tumors~30% by age 40~10%1%Journal <strong>of</strong> Hematology and Transfusion Medicine Vol. 18 No. 2 April-June 2008
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