Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).
A congenital dyserythropoietic anaemia (CDA) was recognised in a French Caucasian male patient. Blood smears showed a pronounced aniso-poikilocytosis. Bone marrow light microscopy showed signs of dyserythropoesis, but no internuclear chromatin bridges. Electron microscopy disclosed erythroblast nuclei with the Swiss cheese aspect and the presence of cytoplasmic organelles, assessing the diagnosis of CDA I. The presence of internuclear chromatin bridges may thus be missing in CDA I. The patient proved to be homozygous for the Arg1042Trp mutation in codanin-1 (the 'Bedouin mutation'). By the age of 25, the patient's vision started to deteriorate as a result of retinal angioid streaks and macular abnormalities. Evolution was controlled and the patient, being nearly 50 yr old now, still has a partial use of his eyes. This second case of retinal angioid streaks reported in CDA I adds to the non-haematological features likely to be associated with this condition.
Tamary
H
H
Hematology Unit, Center of Pediatrics, Hematology Oncology, Schneider's Medical Center of Israel, Petah Tikva, Israel.
Offret
H
H
Dgany
O
O
Foliguet
B
B
Wickramasinghe
S N
SN
Krasnov
T
T
Rumilly
F
F
Goujard
C
C
Fénéant-Thibault
M
M
Cynober
T
T
Delaunay
J
J
D019943:Amino Acid Substitution / Q000235:genetics*; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000793:Angioid Streaks / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D001120:Arginine / Q000235:genetics; D001854:Bone Marrow Cells / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D006023:Glycoproteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins; D014364:Tryptophan / Q000235:genetics
C470477:CDAN1 protein, human; D006023:Glycoproteins; D009687:Nuclear Proteins; D014364:Tryptophan; D001120:Arginine