Elliptocytosis in myelodysplastic syndrome associated with translocation (1;5)(p10;q10) and deletion of 20q.
Acquired elliptocytosis is a red blood cell abnormality occasionally associated with myelodysplastic syndrome (MDS). A Japanese male with MDS who presented with elliptocytosis had mild anemia and hypercellular bone marrow with three lineage-dysplasia. He was diagnosed with refractory anemia of MDS. Cytogenetic analysis of bone marrow cells showed 47,XY,+1,der(1;5)(q10;p10),t(1;5) (p10;q10),del(20)(q11) in 70% of the analyzed cells. Analysis of red blood cell membrane proteins by sodium dodecyl sulphate-polyacrylamide gel electrophoresis showed normal electrophoretic patterns with no quantitative abnormalities of each protein. Del(20q) and/or t(1;5)(p10;q10) might be associated with elliptocytosis in this patient.
Ishida
F
F
Second Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Shimodaira
S
S
Kobayashi
H
H
Saito
H
H
Kaku
M
M
Kanzaki
A
A
Yawata
Y
Y
Kitano
K
K
Kiyosawa
K
K
D000368:Aged; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002890:Chromosomes, Human, Pair 20; D002895:Chromosomes, Human, Pair 5; D004591:Electrophoresis, Polyacrylamide Gel; D004910:Erythrocyte Membrane / Q000378:metabolism; D004913:Erythrocytes, Abnormal; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D014178:Translocation, Genetic