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Blood, Vol. 92 No. 9 (November 1), 1998:
pp. 3455-3459
Apolipoprotein E 4 Allele as a Genetic Risk Factor for Left
Ventricular Failure in Homozygous -Thalassemia
Effrosini Economou-Petersen,
Athanassios Aessopos,
Athina Kladi,
Panagiota Flevari,
Fotis Karabatsos,
Christina Fragodimitri,
Peter Nicolaidis,
Helen Vrettou,
Dimitris Vassilopoulos,
Markissia Karagiorga-Lagana,
Dimitrios Th. Kremastinos, and
Michael B. Petersen
From the Hellenic Red Cross Hospital, Athens; the Eginition
University Hospital, Athens; the Laiko University Hospital, Athens; the
Onassis Cardiac Surgery Center, Piraeus; the "Aghia Sophia"
Children's Hospital, Athens; the Mitera Maternity Hospital, Athens;
and the Institute of Child Health, Athens, Greece.
In homozygous -thalassemia, the organ damage is mainly attributed
to excessive iron deposition through the formation of oxygen free
radicals. Despite appropriate transfusion and chelation therapy and low
ferritin levels, patients still develop organ failure, heart failure
being the main cause of death. This study was designed to determine
whether the decreased antioxidant activity of the apolipoprotein E
(APOE) 4 allele could represent a genetic risk factor for the
development of left ventricular failure (LVF) in -thalassemia
homozygotes. A total of 251 Greek -thalassemia homozygotes were
studied. Patients were divided in three groups: group A (n = 151)
with no cardiac impairment, group C (n = 47) with LVF, and 53 patients with LV dilatation and normal LV systolic function constituted
the group B. DNA was obtained from all patients, and the polymerase
chain reaction was used to analyze the polymorphism at the APOE locus.
The APOE allele frequencies were compared with those of a Greek control
sample of 216 healthy blood donors. Patients with no cardiac impairment
had an APOE 4 allele frequency (7.9%) not different from population
controls (6.5%, P > .05), while patients with LVF had a
significantly higher frequency of APOE 4 (12.8%) than the controls
(P < .05, odds ratio = 2.11, 95% confidence interval 1.03 to 4.32). The APOE 4 allele may represent an important genetic risk
factor for the development of organ damage in homozygous
-thalassemia.
© 1998 by The American Society of Hematology.

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