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Fanconi Anemia Presented by : John Sun Genomics and Medicine Pictures courtesy of h:p://www. fanconi.org/ General Overview • Around 500 families – ~1800 cases in medical literature • Usually symptoms appear from birth • 13 genes involved with FA • Life expectancy – 20 to 30 years Symptoms include: • Bone marrow failure • Physical deformiOes • PredisposiOon to many cancers Pictures courtesy of h:p://www.emedicine.com/PED/topic3022.htm Classical Diagnosis • Looks for physical symptoms: • Short stature • Skin discoloraOon • Hand and arm abnormaliOes • FaOgue • DefiniOve test: • Chromosome breakage test Classical Treatment • PalliaOve Treatments – Frequent blood count checks/Blood transfusions – Bone marrow transplant – Hormone therapy to sOmulate RBC growth – Chemotherapy for the cancers GeneOc Diagnosis • FA is related to 13 genes. – FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN – If any one is homozygous recessive, FA will present itself. – FANCA ‐16q24.3, FANCC ‐9q96.9 – DNA tests can also idenOfy specific mutaOons in Fanconi genes. GeneOc Treatments • Ongoing clinical trials by NaOonal InsOtutes of Health Clinical Center. Sponsored by NHLBI • Gene Therapy – replace the diseased genes in the stem cells of bone marrow with healthy genes, then destroy remaining diseased cells. – Earlier definiOve tesOng References • • • • • Online Mendelian Inheritance in Man Fanconi Anemia Research Fund, Inc. MedlinePlus Medical Encyclopedia Clinicaltrials.gov NCBI Pubmed