NOME: Silvia
COGNOME: Aiureghian
NATA IL: 21/05/2006
AFFETTA DA: anemia di Blackfan-Diamond
SITUAZIONE AGGIORNATA: Attualmente in cura presso l’ospedale Civile Maggiore di Verona e ospedali di Torino. Siamo in attesa di ulteriori informazioni riguardo i risultati delle ultime visite.
NOTE SULLA MALATTIA:
L’anemia di Blackfan-Diamond è un’anemia cronica classificata come “MALATTIA GENETICA RARA” che colpisce i bambini per lo più durante il primo anno di vita.
E’ una rara insufficienza midollare, pur essendo la più frequente aplasia congenita pura della serie rossa, caratterizzata da grave anemia presente sin dai primi mesi di vita, malformazioni congenite e aumentato rischio di insorgenza di neoplasie.
Le malformazioni congenite interessano circa il 40% dei pazienti, coinvolgendo diversi distretti corporei (pollice trifalangeo, palatoschisi, malformazioni urogenitali e/o cardiovascolari); il difetto staturale e frequente.
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