Congenital dyserythropoietic anemia type I with ringed sideroblasts.
A 25-year-old male with anemia, jaundice and liver dysfunction was admitted to our institution. Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic stippling in peripheral blood smear, erythroid hyperplasia with megaloblastoid changes, binucleated cells and intranuclear bridging in bone marrow aspirate and spongy, unevenly condensed nuclear chromatin in electron microscopy studies indicated that he had congenital dyserythropoietic anemia (CDA) type I. As a rare finding in CDA, ringed sideroblasts were noted. It is proposed that this patient is an example for the designation 'variant congenital dyserythropoietic anemia with ringed sideroblasts'.
Soysal
T
T
Cerrahpasa Medical Faculty, University of Istanbul, Turkey.
Akun
E
E
Ozaras
R
R
Aki
H
H
Ozturk
M
M
Tuzuner
N
N
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000145:classification / Q000150:complications / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology; D004913:Erythrocytes, Abnormal / Q000648:ultrastructure; D006432:Hemochromatosis / Q000209:etiology; D006801:Humans; D007501:Iron / Q000032:analysis; D008099:Liver / Q000737:chemistry / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron
D007501:Iron