–α5.2/-α3.7(1 patient) and - -MedI/-α3.7 with cd39C>T(118 C>T) (1 patient). Finally, 1
patient had severe anemia, requiring regular transfusions and chelation and had the genotype
- -Med/α Agr α(Agrinio).
Conclusions: The results were compared with a previous survey involving a much smaller
patient number (Thessaly region) (Georgiou et al, 2002) and with the largest Greek conducted
study, representative of the whole territory (Boussiou et al, 2008). They are in accordance
with the overall national published cohort with small variations, due to prevalence of specific
mutations locally, as expected. The complex interplay between genotype and clinical
phenotype varies in many cases and requires further investigation, regarding the presence,
absence or function of possible modifying genes.
POSTER 12
SCIENTIFIC PROGRAMME
SESSION I
BONE MARROW
RESPONSE TO VIRAL
INFECTIONS
SESSION II
HAEMATOLOGICAL
RESPONSE TO SARS
COV2 INFECTION
SESSION III
DYSERYTHROPOIESIS IN
CLONAL HAEMOPOIESIS
AND MDS
SESSION IV
ERYTHROPOIESIS
CONTROL
SESSION V
ERYTHROPOIESIS
CONTROL : PHASE 2
SESSION VI
IRON METABOLISM
AND ERYTHROPOIESIS
SESSION VII
INHERITED
DYSERYTHROPOIESIS
SESSION VIII
GENE THERAPY/EDITION
SESSION IX – DRUGS
AND INEFFECTIVE
ERYTHROPOIESIS
SELECTED ABSTRACTS
FOR AN ORAL
PRESENTATION
SELECTED ABSTRACTS
FOR A POSTER
PRESENTATION
FACULTY DISCLOSURES