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Published in: Annals of Hematology 9/2020

01-09-2020 | Ultrasound | Original Article

Liver damage and sickle cell disease: genotype relationship

Authors: Marta Bortolotti, Roberta D’Ambrosio, Mirella Fraquelli, Patrizia Pedrotti, Dario Consonni, Margherita Migone De Amicis, Natalia Scaramellini, Elena Di Pierro, Giovanna Graziadei

Published in: Annals of Hematology | Issue 9/2020

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Abstract

Sickle hepatopathy is a severe and not rare complication of sickle cell disease (SCD), showing mainly a cholestatic pattern. So far, no effective approaches to prevent or treat this condition have been recognized. We conducted a single-center observational study in 68 adult sickle cell patients, encompassing 17 with sickle cell anemia (SCA), 38 with sickle cell thalassemia (HbS/β-Thal), and 13 with HbSC disease. The aim of our study was to assess liver damage in the three main forms of SCD, through the evaluation of clinical, laboratory, and imaging findings. In our population, the role of hepatotropic viruses, high BMI, and alcohol consumption in liver damage was ruled out. SCA and HbS/β-Thal patients with lower Hb (p < 0.001), higher HbS (p < 0.001), and frequent vaso-occlusive crises showed functional (GGT values: SCA and HbS/β-Thal vs HbSC p = 0.047 and p = 0.009, respectively) and structural liver abnormalities, defined by abdominal ultrasound and vibration-controlled transient elastography (liver stiffness values: SCA and HbS/β-Thal vs HbSC p 0.022 and p 0.19, respectively), more severe than HbSC patients. Through univariate and multivariate analyses, male sex, SCA genotype, lower HbF, frequent transfusions, increased GGT values, and abnormal liver ultrasound and stiffness were identified as potentially early markers of sickle hepatopathy.
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Metadata
Title
Liver damage and sickle cell disease: genotype relationship
Authors
Marta Bortolotti
Roberta D’Ambrosio
Mirella Fraquelli
Patrizia Pedrotti
Dario Consonni
Margherita Migone De Amicis
Natalia Scaramellini
Elena Di Pierro
Giovanna Graziadei
Publication date
01-09-2020
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 9/2020
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-020-04113-3

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