title: Thalassemia major between liver and heart: Where we are now.
abstract: The aim of the study was to assess the current state in terms of liver and heart iron overload as well as of liver and heart related morbidity and mortality in a large cohort of thalassemia patients. Myocardial iron loading was present in 28.9% patients, which was severe in 3.2%. Liver iron was normal in 9.3% and severe in 15%. The rate of cardiac deaths started to decrease between 2000 and 2003 and dropped significantly afterwards. The prescription of combination therapy soon after the hospital admission for decompensated heart failure was associated with a decrease in the short-term mortality. In 111 adult patients who underwent liver elastometry, 14 HCVRNA positive subjects and 2 HCVRNA negative, had stiffness values suggestive of cirrhosis. No cases of hepatocarcinoma were reported. Liver "iron free foci" occurred in a HCV negative patient and the occurrence of a malignant epithelioid hemangioendothelioma led to liver transplantation in another. The study suggests that a subset of patients continues to develop progressive hemosiderosis that may lead to cardiac disease and death. Beyond its key role in preventing myocardial iron overload, liver iron chelation is essential for hampering the onset of hepatic tumors, which may not be limited to hepatocarcinoma.
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Dessì
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy.
authors.forename: GiovanBattista
authors.initials: G
authors.lastname: Leoni
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy; Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università degli Studi di Cagliari, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Moi
authors.affiliation: Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università degli Studi di Cagliari, Italy.
authors.forename: Fabrice
authors.initials: F
authors.lastname: Danjou
authors.affiliation: Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università degli Studi di Cagliari, Italy.
authors.forename: Ilenia
authors.initials: I
authors.lastname: Follesa
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy.
authors.forename: Maria Loreta
authors.initials: ML
authors.lastname: Foschini
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy.
authors.forename: Maddalena
authors.initials: M
authors.lastname: Morittu
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy; Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università degli Studi di Cagliari, Italy.
authors.forename: Antonietta
authors.initials: A
authors.lastname: Zappu
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Defraia
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy.
authors.forename: Patrizio
authors.initials: P
authors.lastname: Bina
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Cunico
authors.affiliation: Dipartimento di Scienze Mediche-Mario Aresu, Azienda Ospedaliera Universitaria AOU, Università degli Studi di Cagliari, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Civolani
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy.
authors.forename: Rosa Anna
authors.initials: RA
authors.lastname: Podda
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL 8, Via Jenner, sn 09121 Cagliari, Italy; Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università degli Studi di Cagliari, Italy. Electronic address: raffaella.origa@unica.it.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Origa
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D000077543:Deferiprone; D003676:Deferoxamine / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D005260:Female; D006390:Hemangioendothelioma / Q000209:etiology / Q000401:mortality / Q000473:pathology* / Q000601:surgery; D006486:Hemosiderosis / Q000188:drug therapy / Q000209:etiology / Q000401:mortality / Q000473:pathology*; D006801:Humans; D007223:Infant; D007501:Iron / Q000378:metabolism; D007502:Iron Chelating Agents / Q000627:therapeutic use; D008099:Liver / Q000187:drug effects / Q000378:metabolism / Q000473:pathology; D008103:Liver Cirrhosis / Q000188:drug therapy / Q000209:etiology / Q000401:mortality / Q000473:pathology*; D008113:Liver Neoplasms / Q000209:etiology / Q000401:mortality / Q000473:pathology* / Q000601:surgery; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D011728:Pyridones / Q000627:therapeutic use; D012720:Severity of Illness Index; D016019:Survival Analysis; D065227:Transfusion Reaction; D017086:beta-Thalassemia / Q000378:metabolism / Q000401:mortality / Q000473:pathology* / Q000628:therapy
chemical_list: D007502:Iron Chelating Agents; D011728:Pyridones; D000077543:Deferiprone; D007501:Iron; D003676:Deferoxamine
keywords: Combination therapy; Hemangioendothelioma; Iron free foci; Iron overload; Thalassemia major