40
International Journal of
HEMATOLOGY
1. Introduction
Paroxysmal nocturnal hemoglobinuria (PNH) is an
acquired clonal stem cell disorder characterized by the clini-
cal triad of hemolytic anemia, bone marrow failure, and
venous thrombosis [1]. Hemolysis is due to an intrinsic
abnormality of red cells deficient in several membrane pro-
teins that protect them against damage from the membrane
attack complex of complement, including CD55 (decay
Detection of CD55- and/or CD59-Deficient Red Cell
Populations in Patients With Plasma Cell Dyscrasias
John Meletis,
a
Evangelos Terpos,
a
Michalis Samarkos,
a
Christos Meletis,
b
Effie Apostolidou,
a
Veroniki Komninaka,
a
Konstantinos Korovesis,
a
Konstantinos Anargyrou,
a
Olga Benopoulou,
a
Despina Mavrogianni,
a
Eleni Variami,
a
Nora Viniou,
a
Konstantinos Konstantopoulos
a
a
First Department of Internal Medicine, University of Athens School of Medicine, Laiko General Hospital, Athens;
b
Department of Electrical and Computer Engineering, National Technical University of Athens,Athens, Greece
Received March 21, 2001; received in revised form August 13, 2001; accepted August 15, 2001
Abstract
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disorder characterized by a decrease or absence of gly-
cosylphosphatidylinositol (GPI)-anchored molecules such as CD55 and CD59 from the surface of affected cells, resulting in
intravascular hemolysis, cytopenia, and venous thrombosis. A PNH-like phenotype has been detected in various hematologi-
cal disorders, mainly in aplastic anemia and myelodysplastic syndromes, but also in lymphoproliferative syndromes (LPSs).To
the best of our knowledge, CD55- or CD59-deficient red cells have not been detected in plasma cell dyscrasias (PCDs). The
aim of this study was the detection of CD55- and/or CD59-deficient red cell populations in patients with PCD. Seventy-seven
patients were evaluated; 62 with multiple myeloma (MM), 7 with Waldenström macroglobulinemia (WM), 6 with monoclonal
gammopathy of undetermined significance (MGUS), and 2 with heavy chain disease (HCD). The sephacryl gel microtyping
system was applied; Ham and sucrose lysis tests were also performed on all samples with CD55- or CD59-negative popula-
tions. Red cells deficient in both molecules were detected in 10 (12.9%) of 77 patients with PCD: 2 (28.6%) of 7 with WM, 1
(16.6%) of 6 with MGUS, 6 (9.6%) of 62 with MM, and 1 of 2 patients with HCD. Isolated CD55 deficiency was found in 28.5%
of all PCD patients, whereas isolated CD59 deficiency was not observed in any patients.These findings illustrate the existence
of the PNH phenotype in the red cells of patients with PCD; further investigation is needed into the mechanisms and signifi-
cance of this phenotype. Int J Hematol. 2002;75:40-44.
©2002 The Japanese Society of Hematology
Key words: Paroxysmal nocturnal hemoglobinuria; CD55; CD59; Multiple myeloma; Waldenström macroglobulinemia
Correspondence and reprint requests: Professor John
Meletis, First Department of Internal Medicine, University of
Athens School of Medicine, Laiko General Hospital, Athens
11527, Greece; telephone and fax: 301 77 71 161 (e-mail:
imeletis@cc.uoa.gr).
accelerating factor [DAF]) and CD59 (membrane inhibitor
of reactive lysis [MIRL]) [2]. These proteins share a common
phospholipid element, glycosylphosphatidylinositol (GPI),
that forms a peptide bond with the C-terminal amino acid of
certain proteins, serving to attach the protein to the mem-
brane [3]. Patients with PNH have a somatic mutation in the
X-linked gene PIG-A (phosphatidyl inositol glycan comple-
mentation group A), encoding a protein required for an early
step in the biosynthesis of the GPI molecule. This mutation
occurs in an early hematopoietic stem cell, resulting in an
absence or decrease in GPI-anchored proteins in all types of
blood cells [4]. Several PNH clones, bearing different PIG-A
mutations, frequently coexist in the same patient, which
accounts for the concomitant existence of blood cells with a
complete deficiency of GPI-anchored proteins (PNH III)
and blood cells with a partial deficiency of these molecules
(PNH II) [5].