Fanconi Anemia 101

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FA Literature: Physical Findings, 60%Low Birth WeightShortThumbsSkin hyperpigmentedGonads maleMicrocephalyRenalEyesSkin café au laitDevelopmental delayEars, deafRadiiCardiopulmonaryLegs, hips, feetGastrointestinal tractBrain/pituitaryGonads femaleShort or skin onlyM:F1.2:10 10 20 30 40 50 60PercentShimamura and Alter, Blood Reviews, 2010
Characteristics of Persons with FA• Physical findings described in the literaturemay not be found in all persons with FA• 11% had short stature and skin findings only• At least 25% of those reported had no physicalfindings• Some persons without physical findingsmay be diagnosed at a later age
Page 1 and 2: Fanconi Anemia 101Blanche P Alter,
Page 3 and 4: Koalas
Page 5 and 6: Question• How many think that the
Page 7 and 8: Fanconi Anemia: ChildrenPhotos with
Page 9: FA: Age at Diagnosis in LiteratureF
Page 13 and 14: FA: HandsRightLeft
Page 15 and 16: FA: CBCs - Hand SurgeryHb and MCVWB
Page 17 and 18: Fanconi Anemia: Definition• Autos
Page 19 and 20: Autosomal Recessive InheritanceAffe
Page 21 and 22: Disease-Associated MutationsA mutat
Page 23 and 24: FA: Complementation Groups/GenesGro
Page 25 and 26: Who Should be Tested for FA?• Cha
Page 27 and 28: Chromosomes
Page 29 and 30: Complementation Analysis, ClonedFAN
Page 31 and 32: Blood Production (Hematopoiesis)Mye
Page 33 and 34: Proof of Mosaicism in FA• Periphe
Page 35 and 36: FA: Gastroenterology• Anatomical
Page 37 and 38: FA: Complications• Aplastic Anemi
Page 39 and 40: Aplastic Anemia: Signs and Symptoms
Page 41 and 42: “MDS” in FA• Clone alone does
Page 43 and 44: FA: Treatment for Bone Marrow• Tr
Page 45 and 46: FA: Medical Treatment• Oxymetholo
Page 47 and 48: FA: Supportive Care• RBCs - for H
Page 49 and 50: FA Literature: Cancer Types 1927-20
Page 51 and 52: Relative Risk of Cancer in FAParame
Page 53 and 54: FA: Adult Females• Late onset of
Page 55 and 56: Field Trip
Page 57: FA Survival 1927 to1999; 2000-2009P

Fanconi Anemia 101

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