User profiles for "author:Maddalena Casale"

Maddalena Casale

Università degli Studi della Campania "Luigi Vanvitelli"
Verified email at unicampania.it
Cited by 980

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

P Noris, S Perrotta, M Seri, A Pecci… - Blood, The Journal …, 2011 - ashpublications.org
Abstract Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare
form of autosomal dominant thrombocytopenia and only 2 families were known. However …

[HTML][HTML] Current challenges in the management of patients with sickle cell disease–A report of the Italian experience

G Russo, L De Franceschi, R Colombatti… - Orphanet Journal of …, 2019 - Springer
Sickle cell disease (SCD) is an inherited red blood cell disorder caused by a structural
abnormality of hemoglobin called sickle hemoglobin (HbS). Clinical manifestations of SCD …

[HTML][HTML] Red blood cell alloimmunisation in transfusion-dependent thalassaemia: a systematic review

M Franchini, GL Forni, G Marano, M Cruciani… - Blood …, 2019 - ncbi.nlm.nih.gov
Background Chronic red blood cell transfusion is the first-line treatment for severe forms of
thalassaemia. This therapy is, however, hampered by a number of adverse effects, including …

[HTML][HTML] Disease burden and quality of life in children with sickle cell disease in Italy: time to be considered a priority

R Colombatti, M Casale, G Russo - Italian Journal of Pediatrics, 2021 - Springer
The objective of the present article is to highlight the need for attention to Quality of Life of
patients with Sickle Cell Disease living in Italy. The transformation of sickle cell disease from …

[HTML][HTML] Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of …

P Noris, S Perrotta, R Bottega, A Pecci, F Melazzini… - …, 2012 - ncbi.nlm.nih.gov
Background Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia
that derives from mutations in GPIbα, GPIbβ, or GPIX and is typically inherited as a recessive …

Endocrine function and bone disease during long‐term chelation therapy with deferasirox in patients with β‐thalassemia major

M Casale, S Citarella, A Filosa… - American journal of …, 2014 - Wiley Online Library
Iron overload in β‐thalassemia major (TM) typically results in iron‐induced cardiomyopathy,
liver disease, and endocrine complications. We examined the incidence and progression of …

Multiparametric cardiac magnetic resonance survey in children with thalassemia major: a multicenter study

M Casale, A Meloni, A Filosa, L Cuccia… - Circulation …, 2015 - Am Heart Assoc
Background—Cardiovascular magnetic resonance (CMR) plays a key role in the
management of thalassemia major patients, but few data are available in pediatric …

[HTML][HTML] Iron chelating properties of Eltrombopag: Investigating its role in thalassemia-induced osteoporosis

F Punzo, C Tortora, M Argenziano, M Casale… - PLoS …, 2018 - journals.plos.org
Chronic blood transfusions are responsible to cause iron overload, which leads to several
complications to end organs and osteoporosis. Iron chelation is needed to remove iron …

Mortality in β-thalassemia patients with confirmed pulmonary arterial hypertension on right heart catheterization

VM Pinto, KM Musallam, G Derchi… - Blood, The Journal …, 2022 - ashpublications.org
Pulmonary arterial hypertension (PAH) is a life-threatening complication of β-thalassemia,
especially in untransfused patients with thalassemia intermedia. Pinto and colleagues …

Premature aging of the immune system affects the response to SARS-CoV-2 mRNA vaccine in β-thalassemia: role of an additional dose

R Carsetti, C Agrati, VM Pinto… - Blood, The Journal …, 2022 - ashpublications.org
Patients with β-thalassemia show 5-fold increase in agestandardized lethality due to SARS-
CoV-2 infection, representing a high-risk population compared with age-and sex-matched …