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

12 th Congress of the European Hematology Association
Globin StripAssay) for Mediterranean countries, population-specific teststrips
should be developed to improve β-thalassemia genotyping and
make the test more globally applicable. Methods. Three separate teststrips,
specific for the most prevalent mutations in Southeast Asia, the
Middle East plus India and the Mediterranean region, have been
designed. Each teststrip comprises 22 variants and represents an allele
coverage of >90% in the respective area. Comprehensive β-thalassemia
genotyping is achieved by a single multiplex DNA amplification reaction
and subsequent hybridization to the adequate teststrip. Results and
Conclusions. The test is simple and convenient, and requires only very
small amounts of samples, which is of particular importance for prenatal
diagnosis. The entire procedure from blood sampling to the identification
of mutations requires less than 6 hours, and hybridization/detection
may be automated using robotic instrumentation. Proprietary software
(StripAssay Evaluator) is available to scan, interpret and electronically
archive StripAssay results. The broad range of β-thalassemia mutations
covered by the extended StripAssay should make it an attractive
and globally useful diagnostic tool.
1146
PATTERN OF IRON CHELATION THERAPY IN EGYPTIAN CHILDREN WITH β
THALASSEMIA: ONE YEAR MANSOURA UNIVERSITY CHILDRENS HOSPITAL EXPERIENCE
N. Abdelrazik
Mansoura University Children Hospital, MANSOURA, Egypt
Background. The simultaneous use of deferioxamine (DFO) and
deferiprone (DFP) has an additive effect in iron excretion in transfusiondependent
thalassemic patients. Aim of the Work. The purpose of our
study was to evaluate the effectiveness and safety of prospective combined
therapy with deferoxamine (DFO) and deferiprone (DFP) in
patients with β-thalassemia major and increased serum ferritin with
DFO alone. Patient and Methods. Sixty patients with β thalassemia major
(mean age±SD, 13.05±6.1, range 3'20 years) attending the outpatient
clinic of the hematology unit for regular transfusional support were studied.
They received packed red cells every 3-4 weeks to maintain pretransfusion
hemoglobin concentration above 9 g/dL. They had been
receiving DFO at a daily dose of 40 mg kg/day by subcutaneous infusion
for 8-10 h on 4-5 nights each week for the past several years. However,
due to various reasons, they had developed considerable transfusional
iron overload. These patients were randomly assigned either to
prospectively receive additional therapy with oral iron chelator DFP at
75 mg kg/day in three divided doses with food for 4-6 days per week
after informed consent (combined therapy group, no= 30) or to receive
treatment with DFO alone as per the above dosage (DFO group, no=30).
The follow up of both groups was done for one year. The comparison
between both groups was assessed by measurements of serum ferritin,
echocardiography, and 24-h urine iron excretion levels. Results. At the
start of the study, both groups were comparable as regard age, Hb level,
chelation status, number of splenectomy, serum ferritin, echocardiography,
and 24-h urine iron excretion levels. Thus, in the 60 evaluable
patients {12 months on therapy}, the mean serum ferritin (±SD) fell dramatically
from 4,150 (±1,250) ng/mL at the start of the study to 1,250
(±750) ng/mL (combined therapy group; p 20 RBCt.
Bloodletting is allowed when Hemoglobin level>8 g/dL. Median follow-up
was 18± 8months. Mean ferritin was 5216±3973 ng/mL (range:
1300-18360). Thirteen patients received DFO alone; mean dose was
30±6 mg/kg/day, 2 injections/d, 3 to 5 d/week. Six patients underwent
bloodletting (mean: 20, 200 to 300 mL/session) and 4 patients received
combination DFO and bloodletting. Serum ferritin has been monitored
every 3 months, performed by Elecsys 2010(Roche, Hitachi). Results.
After 1 year therapy the assessment of all patients shown that the serum
ferritin had fallen from 5216 ng/mL to 3080ng/mL (p: 0.03).The ferritin
decrease below 1000 ng/mL in 4 patients. The serum ferritin level was
lower in 13 patients receiving DFO alone: from 6278 to 4777ng/mL. A
clear decrease showed in 6 patients with bloodletting alone: from 2634
to 1408 ng/mL and also with combination in the others 4 patients: from
2840 to 1769 ng/mL. The compliance was good. Side effects were
observed: local reactions such indurations 3, skin nods 2, skin abscess
1.Transient arterial hypotension 1 after bloodletting. Conclusions. The
reduction of transfusional needs in β-thalassaemia patients treated with
HU, the use of subcutaneous bolus injection of DFO instead of cutaneous
infusion and bloodletting performed in some patients, could be a
good alternative for the management of iron overload. Add of oral
chelating drugs may improve the quality of this chelation.
1148
MOLECULAR CHARACTERIZATION OF HETEROZYGOUS Β-THALASSAEMIA IN LANZAROTE
(CANARY ISLANDS)
J.M. Calvo-Villas, 1 S. De la Iglesia, 2 P. Ropero, 3 F. Zapata, 1 E. Carreter, 1
F. Sicilia1 1 2 Hospital General de Lanzarote, ARRECIFE DE LANZAROTE, Spain; Hospital
Universitario Doctor Negrin, LAS PALMAS DE GRAN CANARIA,
Spain; 3Hospital Universitario San Carlos, MADRID, Spain
Background. β thalassaemia is a common genetic disease but its incidence
and the relative frequency of different alleles vary among the populations.
Objective: To know the prevalence of β thalassaemia trait in
Lanzarote and to determine the molecular defects affecting the β globin
gene in the heterozygous state. Patients and Methods. A epidemiologic
cross-sectional observational investigation has been undertaken in 22560
samples with microcytosis (mean corpuscular volume