Retrospective diagnosis of sickle cell-hemoglobin C disease and parvovirus infection by molecular DNA analysis of postmortem tissue.
A previously healthy 30-year-old African-American woman presented with a history of sickle cell trait and a nonspecific prodromal illness with severe bone pain. She experienced rapid clinical deterioration with seizures and cardiorespiratory arrest leading to death. Autopsy showed necrotic bone marrow with extensive bone marrow emboli. Parvovirus infection was documented by polymerase chain reaction (PCR) although diagnostic intranuclear inclusions or giant pronormoblasts were not present. The diagnosis of sickle cell-hemoglobin C disease (hemoglobin SC disease) was also established postmortem by DNA sequencing of PCR products. This case illustrates the use and versatility of PCR for analysis of formalin-fixed paraffin-embedded autopsy tissue.
Goldstein
L J
LJ
Department of Pathology, Miriam Hospital, Brown University, Providence, RI 02906, USA.
Strenger
R
R
King
T C
TC
Le
S C
SC
Rogers
B B
BB
D000328:Adult; D000595:Amino Acid Sequence; D000741:Anemia, Aplastic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D003937:Diagnosis, Differential; D005260:Female; D006450:Hemoglobin SC Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010322:Parvoviridae Infections / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies