guidebook. - Fanconi Anemia Research Fund

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Fanconi Anemia: Guidelines for Diagnosis and Management
Erythrocyte sedimentation rate: Used to detect and
monitor the activity of inflammation as an aid in the
diagnosis and activity of the underlying cause. 3
Erythroderma: Generalized skin redness. 5
Erythroplasia (Erythroplakia): A reddened patch with
a velvety surface on the oral or genital mucosa that is
considered to be a precancerous lesion. 1
Erythropoietin (EPO): A colony-stimulating factor
which influences red cell production in some conditions.
2
Esophageal atresia (EA): A disorder of the digestive
system in which the esophagus does not develop
properly. There are several types. In most cases, the
upper esophagus ends and does not connect with the
lower esophagus and stomach. The top end of the lower
esophagus connects to the windpipe. This connection is
called a tracheoesophageal fistula (TEF). Other types of
esophageal atresia involve narrowing of the esophagus,
and may also be associated with other birth defects. 5
Esophagoscopy: Examination of the esophagus by
means of an esophagoscope, a thin, tube-like instrument
with a light and a lens for viewing. It may also have a
tool to remove tissue to be checked under a microscope
for signs of disease. 8
Extramedullary leukemia: The occurrence of myelogenous
leukemia outside the bone marrow, such as in the
spinal fluid, testes or ovaries, or skin. 13
Ferritin: The form in which iron is stored in the body.
5’-nucleotidase (5’-NT): 5’-nucleotidase is a protein
produced by the liver; the test measures the amount of
this protein in the blood. 5