guidebook. - Fanconi Anemia Research Fund

Glossary
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Hemoglobin: The oxygen-carrying pigment of the red
blood cells; combines with oxygen from the lungs and
carries it to the body’s cells. 2
Hemoglobinopathy: A blood disorder (such as sicklecell
anemia) caused by a genetically determined change
in the molecular structure of hemoglobin. 1
Hepatic sinusoids: A minute endothelium-lined space
or passage for blood in the tissues of the liver. 1
Hepatitis: Inflammation of the liver. 5
Hepatocellular carcinoma: Cancer of the liver. 5
Hepatomegaly: Enlarged liver. 5
Herpes simplex (HSV): An infection that mainly
affects the mouth or genital area. There are two strains
of HSV: Type 1 (HSV-1) is usually associated with
infections of the lips, mouth, and face. It is transmitted
by contact with infected saliva. By adulthood, up
to 90% of people will have antibodies to HSV-1. Type
2 (HSV-2) is sexually transmitted. Symptoms include
genital ulcers or sores. However, some people have
HSV-2 but do not show symptoms. Up to 30% of U.S.
adults have antibodies against HSV-2. Cross-infection
of type 1 and 2 viruses may occur from oral-genital
contact. 5 Tested prior to transplant because it can reactivate
during periods of immune suppression.
Heterozygotes: Everyone has two copies of nearly all
of his genes. Heterozygous means that one of the copies
of a gene is slightly different from the other copy of the
gene. One gene may have an FA mutation and the other
may not (i.e., a carrier is heterozygous). An individual
with FA may be heterozygous if he has two different
mutations in his FA genes.