A study of the genetic basis of hyperferritinaemic syndromes with or without anemia in patients of Greek origin

Doctoral Dissertation uoadl:1307173 238 Read counter

Τομέας Παθολογίας
Library of the School of Health Sciences
Deposit date:
Χατζηνικολάου Σταματία - Λυδία
Dissertation committee:
Γεράσιμος Πάγκαλης, Ιωάννης Μελέτης, Αντώνιος Καττάμης
Original Title:
Μελέτη της γενετικής βάσης συνδρόμων υπερφερριτιναιμίας με ή χωρίς αναιμία σε Έλληνες ασθενείς
Translated title:
A study of the genetic basis of hyperferritinaemic syndromes with or without anemia in patients of Greek origin
Assessment of asymptomatic hyperferritinemia is a frequent cause of
tertiary care referral. The aim of the present study was the phenotypic and
molecular assessment of asymptomatic hyperferritinemic patients that presented
to the Hepatology Outpatient Clinic of the 1st Department of Internal Medicine
at Laiko General Hospital.
A total of 87 patients with asymptomatic hyperferritinemia were
studied. In more than 70% the cause of hyperferritinemia was not related to
iron overload. The most common causes were the dysmetabolic syndrome, chronic
inflammation, neoplasia, dyserythropoiesis and exogenous iron administration.
Molecular analysis was performed in 37% of patients and was positive for
mutations in 41% of the molecularly investigated cases.
According to the present study, asymptomatic hyperferritinemia is not
usually due to iron loading. Ferritin is a non-specific marker of disease. On
the contrary, transferrin saturation is a useful marker of iron overload.
Molecular analysis is a powerful tool in the diagnostic approach of
hyperferritinemia, but is of value only in well-selected cases.
A rare cause of asymptomatic hyperferritinemia is the hereditary
hyperferritinemia cataract syndrome (HHCS). It is a rare autosomal dominant
disorder characterized by increased ferritin levels, irrespective of body iron
status, and early-onset bilateral cataracts. HHCS is due to mutations in the
FTL gene.
The aim of the second part of this study was the identification and
characterization of patients of Greek origin with HHCS.
Ten unrelated cases were diagnosed with HHCS among the 87 patients with
hyperferritinemia. Molecular analysis revealed two point mutations, the C39G
and the A40G. C39G has been previously described in patients of Greek origin.
This is the first report of the A40G mutation in the Greek population.
The present study is the first extended report of HHCS cases in the Greek
Ferritin, Hyperferritinaemia, Hereditary hyperferritinemia cataract syndrome - HHCS, FTL gene, Iron
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