Impact of genotype on multi-organ iron and complications in patients with non-transfusion-dependent β-thalassemia intermedia.

Autor: Meloni A; Department of Radiology, Fondazione G. Monasterio CNR-Regione Toscana, Via Moruzzi, 1, 56124, Pisa, Italy.; U.O.C. Bioingegneria, Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy., Pistoia L; Department of Radiology, Fondazione G. Monasterio CNR-Regione Toscana, Via Moruzzi, 1, 56124, Pisa, Italy.; U.O.C. Ricerca Clinica, Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy., Ricchi P; U.O.S.D. Malattie Rare del Globulo Rosso, Azienda Ospedaliera Di Rilievo Nazionale 'A. Cardarelli', Naples, Italy., Bagnato S; Ematologia Microcitemia, Ospedale San Giovanni di Dio - ASP Crotone, Crotone, Italy., Longo F; Unità Operativa Day Hospital Della Talassemia E Delle Emoglobinopatie, Azienda Ospedaliero-Universitaria 'S. Anna', Cona, FE, Italy., Messina G; Centro Microcitemie, Grande Ospedale Metropolitano 'Bianchi-Melacrino-Morelli', Reggio Calabria, Italy., Bagnato S; U.O.S. Di Talassemia, Presidio Ospedaliero Lentini - ASP 8 Siracusa, Lentini, SR, Italy., Rossi V; U.O.C. Ematologia, Ospedale Di Cosenza, Cosenza, Italy., Renne S; Struttura Complessa Di Cardioradiologia-UTIC, Presidio Ospedaliero 'Giovanni Paolo II', Lamezia Terme, Italy., Righi R; Diagnostica Per Immagini E Radiologia Interventistica, Ospedale del Delta, Lagosanto, FE, Italy., Fina P; Unità Operativa Complessa Diagnostica Per Immagini, Ospedale 'Sandro Pertini', Rome, Italy., Positano V; Department of Radiology, Fondazione G. Monasterio CNR-Regione Toscana, Via Moruzzi, 1, 56124, Pisa, Italy.; U.O.C. Bioingegneria, Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy., Cademartiri F; Department of Radiology, Fondazione G. Monasterio CNR-Regione Toscana, Via Moruzzi, 1, 56124, Pisa, Italy. fcademartiri@ftgm.it.
Jazyk: angličtina
Zdroj: Annals of hematology [Ann Hematol] 2024 Jun; Vol. 103 (6), pp. 1887-1896. Date of Electronic Publication: 2024 Apr 06.
DOI: 10.1007/s00277-024-05741-9
Abstrakt: We evaluated the impact of the genotype on clinical and hematochemical features, hepatic and cardiac iron levels, and endocrine, hepatic, and cardiovascular complications in non-transfusion-dependent (NTD) β-thalassemia intermedia (TI) patients. Sixty patients (39.09 ± 11.11 years, 29 females) consecutively enrolled in the Myocardial Iron Overload in Thalassemia project underwent Magnetic Resonance Imaging to quantify iron overload, biventricular function parameters, and atrial areas and to detect replacement myocardial fibrosis. Three groups of patients were identified: homozygous β+ (N = 18), heterozygous β0β+ (N = 22), and homozygous β0 (N = 20). The groups were homogeneous for sex, age, splenectomy, hematochemical parameters, chelation therapy, and iron levels. The homozygous β° genotype was associated with significantly higher biventricular end-diastolic and end-systolic volume indexes and bi-atrial area indexes. No difference was detected in biventricular ejection fractions or myocardial fibrosis. Extramedullary hematopoiesis and leg ulcers were significantly more frequent in the homozygous β° group compared to the homozygous β+ group. No association was detected between genotype and liver cirrhosis, hypogonadism, hypothyroidism, osteoporosis, heart failure, arrhythmias, and pulmonary hypertension. Heart remodelling related to a high cardiac output state cardiomyopathy, extramedullary hematopoiesis, and leg ulcers were more pronounced in patients with the homozygous β° genotype compared to the other genotypes analyzed. The knowledge of the genotype can assist in the clinical management of NTD β-TI patients.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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