12th Congress of the European Hematology ... - Haematologica

12 th Congress of the European Hematology Association
the clinical features of AP and its impact on quality of life in a large
cohort of German patients with PV. Methods. Hematologists in Germany
were invited to distribute anonymous questionnaires to their PV
patients. The questionnaires contained questions to assess PV status,
AP characteristics and treatment, as well as a standardised EORTC QLQ-
C30 questionnaire to assess quality of life. Also, an electronic web-based
version was created and provided to a patient support group. Results. 123
patients (67 females, 56 males; mean age 61 years (range: 28.13 - 87.42))
with PV responded and returned the questionnaires. Of these 81 had a
history of AP. In 52 patients (64.2 percent of AP patients and 42.3 percent
of all patients), AP occured prior to diagnosis of PV, but only in 5
patients this led to the diagnosis of PV. 5 patients developed AP after
diagnosis of PV. AP is perceived as an itching sensation in 64 patients (79
percent), tickling in 15 (18.5 percent), stinging in 18 (22.2 percent) and
burning in 14 (17.3 percent). 36 patients (44.4 percent) report warm
water to cause stronger pruritus than cold water, whereas only 7 patients
(8.6 percent) report the contrary and 31 patients (38.3 percent) do not feel
a difference. In 83 percent of patients pruritus starts less than 10 minutes
after water-contact. Only in 36 patients (44.4 percent), pruritus has
improved or ceased with therapy of PV (only 7.4 percent reported cessation
of pruritus). Overall quality of life is decreased in patients with
AP (56 points out of 100) as compared to PV patients without AP (65
points out of 100). Conclusions. AP is a frequent symptom in PV which
has a strong impact on quality of life and can only be resolved in 7.4 percent
of patients by PV therapy. Also, AP seems to be a predictor of PV,
occuring in 42.3 percent of all PV patients before diagnosis of PV. The
small number patients in which this actually led to diagnosis of PV gives
reason to concern and room for improvement.
1311
THE ABO, RHESUS AND KELL SYSTEM POLYMORPHISM AND THE DISTRIBUTION OF
WEAK D PHENOTYPES OF RHESUS BLOOD GROUP SYSTEM IN THE GREEK POPULATION
A. Stamna, 1 A.-B. Haidich, 1 A. Manitsa, 2 S. Theodoridou, 2 N. Vavatsi-
Christaki1 1 Medicine Scool, AUTH, THESSALONIKI; 2 Thalassamia Prevention
Unit,Hippokration, THESSALONIKI, Greece
The ABO and Rhesus blood group systems are involved in the newborn’s
haemolytic disease, the transfusion reactions, and the autoimmune
haemolytic anemia. D antigen of the Rh system is now considered
to be a mosaic of epitopes. Among Europeans 1% carries RHD alleles as
weak D and partial D. These different phenotypes have distinct
immunohematologic characteristics. During the last years several DNA
typing methods have been developed to complement routine serological
typing for determination of polymorphisms in the ABO, RH, Kell, JK
and FY blood group genes. The purpose of this study was the RHD genotyping
in a Greek population sample and also the study of phenotype and
gene frequencies of ABO, RhD and Kell systems among 4034 blood
donors. Since 2003-2005, 4034 samples from a Greek population were
phenotyped by standard serologic techniques for the ABO, RhD, Kell
blood group systems and genotyped with the use of PCR-SSP techniques
by an established polymerase chain reaction protocol (weak D-SSP,
INNO-train). Data were collected for their age and ancestry. From the
4034 individuals, nine with Rh phenotypes Cce, ce, Cce, Cce, Cce Cce
Cce Cce Cce, were characterized as weak D (ID-Card Anti-D (human),
DiaMed) and were further investigated using ID-Partial RhD-Typing Set
and genotyped with the use of PCR-SSP techniques (weak D-SSP, INNOtrain).
Genomic DNA was extracted from whole blood collected with
EDTA and six RhD specific primers sets were used. The PCR products
were visualized via horizontal gel detection. Five of them were genotyped
as weak D type 1, two as weak D type 3 and two couldn’t be typed
with those primers and they needed further investigation. Gene frequencies
were found as follows: ABO*O = 0,623, ABO*A = 0,274, ABO*B =
0,104, RH*D = 0,6668. Kell allele frequencies were: K: 0,031 and k: 0,969.
The frequency of the Cw antigen in our samples was 2,4%. Phenotype
frequencies for the blood groups were in agreement with Hardy-Weinberg
equilibrium expectations. Important variations have not been
observed between different regions of the country. Our survey is reported
in the hope that it may find some use as reference for studies of blood
group systems and indicates as many others studies that molecular classification
of weak D offers a more reliable basis than serotyping and is
relevant to optimal D transfusion strategies.
474 | haematologica/the hematology journal | 2007; 92(s1)
1312
FREE-LIGHT CHAIN CONTRIBUTION TO THE EVALUATION OF RESPONSE AFTER
STEM-CELL TRANSPLANTATION IN MULTIPLE MYELOMA
M. Gironella
Vall d’Hebron Hospital, BARCELONA, Spain
Background. The increase in complete remission (CR) rate in Multiple
Myeloma (MM) after stem cell transplantation (SCT) according with
the EBMT criteria raise the interest for the application of a quantitative
test for clonality. Aims. To determine the serum concentration of free
light chains and its ratio kappa/lambda (k/L) to determine clonality and
compare it to immunofixation (IF). Patients and Methods. We studied retrospectively
12 patients in remision after auto-SCT and 1 patient in CR
after a sibling allo-SCT. Most of them presented with bone lesions and
a median of 45% plasma cells in bone marrow. M-component distribution:
IgGk (6), IgGL (1), IgAk (1), IgDL (1), BJk (2), BJL (2). Standard evaluation
3 months after the procedure were as follows : 8 patients (pts)
were in CR, 4 pts in near CR with >90% reduction in initial M-component
(including one with engraftment’s failure),and one patient with
only 2 months follow-up in partial remission (PR). Serum free-light chain
were determined between 2 and 86 months after SCT, the median being
26 months. Results. Both light chains were high (policlonal) in a single
case in CR, who had active neumonitis. Both were low in the patient
with engraftment’s failure, who relapsed shortly thereafter. One of the
chains was elevated in 6 cases, all in agreement with the initial M-component,
4 proved to be clonal according to k/L ratio and 2 showed normal
clonality after 23 and 86 months of follow-up. The k/L ratio as test
of clonality was normal in 9 cases and showed clonality k in two cases
and clonality L in another two, altough one of the latter was very close
to the normal limit. There was a concordance with immunofixation in
12 /13 cases. A single patient was discordant having a marginal k/L ratio
of 0.23 with negative IF, and remains in CR 17 months postransplantation.
There was a concordant case, evaluated too early (2 months) who
had marginal clonality k (1.66) with positive IF, and showed progression
with a rising M-component in the subsequent visit. Conclusions. Determination
of serum free-light chains allows a quantitative measure of
clonality, which are in agreement with the results of standar IF (a qualitative
assay) in a high percentage of cases. Therefore this test might
afford increased accuracy in the follow-up of these patient’s CR status.
1313
HEMATO-ONCOLOGICAL DISORDERS IN ACQUIRED IMMUNODEFICIENCY SYNDROME
(AIDS) PATIENTS FROM VENEZUELA
N. Soyano, 1 A. Müller, 2 M. Vitera Silva, 2 A. Monzón, 2 A. Natale, 2
A.E. Soyano3 1 Venezuelan Inst for Scient. Research, CARACAS; 2 Inst. of Hematology &
Oncology (MS-UCV), CARACAS; 3 Luis Razetti Medical School, UCV,
CARACAS, Venezuela
Background. AIDS patients, besides suffering from opportunistic infections,
are prone to develop hematological and oncological disorders,
mainly anemia, cytopenia, lymphoma and Kaposi sarcoma. Aims. Our
objective was to investigate the frequency of these disorders in a series
of Venezuelan patients studied during the period 2003-2007. Patients and
Methods. Patients were diagnosed at the Institute of Hematology and
Oncology (Ministry of Health-Central University of Venezuela, Caracas)
by clinical presentation and lab tests (number of CD4 + and CD8 + T lymphocytes,
positive serology and confirmatory Western blot). All patients
(108) received antiretroviral treatment and the corresponding treatment
for opportunistic infections. Sixty-seven patients were male and fortyone
female; the median age was 38.8 years (range: 23-61 years), without
significative difference between sexes. The most common risk factor
was heterosexual contacts followed by male homosexual contacts.
Routine hematology tests were performed and when indicated, bone
marrow aspirate and biopsy as well as lymph node biopsy. Results. Sixty-seven
patients (62%) developed anemia during the course of the
study: 16 with Hb level below 10 g/dL, 23 between 10 and 12 g/dL, and
28 with Hb between 12 and 14 g/dL. The number of CD4 T cells at
diagnosis was 257±64 cells/µL and viral load of 67,254±8,950 RNA
copies/mL. Most cases were associated with treatment and were managed
by optimizing antiviral therapy. A few cases responded to erythropoietin;
none required transfusion. Of the anemic patients, four also
developed neutropenia which was classified as mild (Absolute Neutrophil
Count: 1000-1500/µL, 4 cases); moderate neutropenia (ANC 500-
999/µL) was observed in two other patients without associated anemia;
no severe cases of neutropenia were observed. Six patients (5.6%) devel-