FANCONI'S ANEMIA Blanche Alter, MD University of Texas Medical Branch Galveston, Texas, USA

56 Pages·2012·4.55 MB·English

Fanconi Anemia 101
Blanche P Alter, MD, MPH, FAAP
Clinical Genetics Branch
Division of Cancer Epidemiology and Genetics
Bethesda, MD

FA Camp, August 10, 2012
When You Hear …., Think …., Or ….
Horses
Zebras
Unicorns
Some Things are Clear; Some are Not
Koalas
The opposite of FA!
Open Minds
“I‟ve never seen this before.”
should be
“I‟ve never recognized this before.”
Questions
1. How many are new to FA Camp?
2. How many have been here before?
3. How many have FA and are 18 years of
age or older?
4. How many think that the diagnosis of
FA was initially missed by one or more
physicians?
History: Guido Fanconi
 Fanconi Anemia
(Fanconi
pancytopenia syndrome): 1927, 3
brothers with pancytopenia and
physical abnormalities,
“perniziosiforme”
 Fanconi Syndrome
(renal
Fanconi syndrome): 1936,
proteinuria, glucosuria,
phosphaturia, aminoaciduria,
citraturia, and proximal renal tubular
acidosis
FA Literature, 1927-2011
 Case Reports ~2200
 Male:female = 1.3:1
 Abnormal physical findings 66%
 Died 684 (32%)
 Alive, median age 11 yrs (0-56)
 Died, median age 11 yrs (0-51)

Biased by under-reporting, over-reporting,
and missing data
Fanconi Anemia: Children
Photos with permission
Fanconi Anemia: Adults
Aplastic
BMT donor,
anemia, 16
50s
Cancer,
?, 6
Absent radius, 0
30
Aplastic
anemia, 5