| RARE COAGULATION DISEASES |
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| Rare coagulation diseases include
the absence of fibrinogens, prothrombin (FII), factor (F)V, FV+VIII
combining FVII, FX e FXIII, with an incidence of 1 person out
of 500.000-2.000.000 at world level. It has to be taken into account
that, in some countries where marriage between consanguineous
is customary, the incidence of these diseases is higher. We also
observed, with the recent rise of immigration in Italy, a growth
in the number of cases. This phenomenon poses a new medical and
social problem, aggravated by the absence of adequate centers
for the treatment of these patients and from the scarce knowledge
of the molecular defects, which are at the base of such pathologies.
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Currently, the treatment consists
of the substitution of the missing factor through the administration
of fresh plasma or of concentrated quantities of said missing
factor.
Many problems are caused by the use of fresh plasma, especially
third-world countries, where the risk of infections like HCV (Hepatitis
C) and HIV (acquired immune deficiency syndrome) is higher. These
infections, in the 80s, represented a serious problem for patients
affected by hemophilia. Moreover, it has to be considered that
a concentrated for the treatment of FV's deficiency is not as
yet available. Therefore, the use of fresh plasma as treatment
for this deficiency is still a customary practice worldwide, but
only in some countries the technology for obtaining virus-inactivated
plasma is available and employed. |
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| Since 1996 the Angelo Bianchi
Bonomi Hemophiliac and Thrombosis Centre, Hospital Maggiore Policlinic,
Mangiagalli and Regina Elena, and Foundation IRCCS have became
a benchmark for the diagnosis and treatment of patients suffering
from deficiencies in coagulation factors. It has to be said that
patients treated in them do not come from Lombardy or even Italy,
but from all over Europe and Asia as well. To the present day,
our Centre treats more than 200 patients. From these patients,
anamnesis data, like clinic and familiar history, have been collected,
as well as data on treatment and therapeutic complications. Therein,
the different types of factor deficiencies have been diagnosed
and the molecular defect of the lacking factor investigated. In
this way, a preliminary prevention of the disease through the
prenatal diagnosis was possible for those couples which were running
the risk of affected children because of one or more prior family
case.. |
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| Diagnosis
of RARE BLEEDING DISORDER |
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| Research lines: |
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CHARACTERIZATION
OF THE MUTATION CONCERNING THE GENES WHICH CODIFY THE COAGULATION
FACTORS |
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