title: Congenital atransferrinemia. A case report and review of the literature.
abstract: A four-year-old Polynesian girl with a two-year history of severe microcytic, hypochromic anemia (which was refractory to iron therapy) had a decreased beta-globulin fraction on serum protein electrophoresis, resulting from the absence of the transferrin (TRF) band. Subsequent assays for TRF showed a level below the detectable range. Liver biopsy revealed significant deposition of hemosiderin within hepatocytes and Kupffer cells, in addition to early fibrosis. Two bone marrow aspirates were hypercellular, with decreased myeloid-erythroid ratios. This case represents the eighth reported example of congenital atransferrinemia, a rare, apparently autosomal recessive disease.
authors.affiliation: Department of Pathology, Tripler Army Medical Center, Honolulu, Hawaii 96859-5000.
authors.forename: R L
authors.initials: RL
authors.lastname: Hamill
authors.forename: J C
authors.initials: JC
authors.lastname: Woods
authors.forename: B A
authors.initials: BA
authors.lastname: Cook
mesh_terms: D001706:Biopsy; D001772:Blood Cell Count; D001796:Blood Protein Disorders / Q000097:blood*; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology; D014168:Transferrin / Q000172:deficiency*
chemical_list: D014168:Transferrin