New molecular diagnostic tests for two congenital forms of anemia.
Congenital hypoplastic anemias are a rare and heterogeneous group of disorders. This paper reviews new molecular diagnostic tests in two distinct forms of congenital anemias, anemia due to transplacental infection with B19 parvovirus and Fanconi anemia. In both instances, molecular assays making use of amplification of DNA by the polymerase chain reaction have been used to diagnose either a specific viral infection or gene mutation responsible for a disorder. Recognition of these entities has important prognostic and therapeutic implications.
Auerbach
A D
AD
Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York, USA.
Verlander
P C
PC
Brown
K E
KE
Liu
J M
JM
D000740:Anemia / Q000145:classification / Q000151:congenital* / Q000175:diagnosis* / Q000209:etiology; D017931:DNA Primers; D004279:DNA, Viral / Q000032:analysis; D005199:Fanconi Anemia / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007585:Jews; D009154:Mutation; D010322:Parvoviridae Infections / Q000150:complications / Q000175:diagnosis*; D016732:Parvovirus B19, Human / Q000235:genetics* / Q000302:isolation & purification; D018807:Polymorphism, Single-Stranded Conformational
D017931:DNA Primers; D004279:DNA, Viral