Β0 VS. NON-Β0 GENOTYPE: DIFFERENCES IN TDT PATIENTS
Author(s): ,
Antonella Meloni
Affiliations:
Fondazione G. Monasterio CNR-Regione Toscana,Pisa,Italy
,
Laura Pistoia
Affiliations:
Fondazione G. Monasterio CNR-Regione Toscana,Pisa,Italy
,
Antonella Massa
Affiliations:
Ospedale “Giovanni Paolo II”,Olbia,Italy
,
Luciana Rigoli
Affiliations:
Policlinico 'G. Martino',Messina,Italy
,
Cristina Paci
Affiliations:
Ospedale “S Maria alla Gruccia”,Montevarchi,Italy
,
Crocetta Argento
Affiliations:
Ospedale “San Giovanni Di Dio”,Agrigento,Italy
,
Maurizio Caniglia
Affiliations:
Azienda Ospedaliera 'S. Maria Misericordia' di Perugia,Perugia,Italy
,
Giovanni Palazzi
Affiliations:
Policlinico di Modena,Modena,Italy
,
Letizia Tedesco
Affiliations:
Presidio Ospedaliero Locri - A.S.P di Reggio Calabria,Locri,Italy
,
Massimiliano Missere
Affiliations:
Fondazione di Ricerca e Cura 'Giovanni Paolo II',Campobasso,Italy
,
Vincenzo Positano
Affiliations:
Fondazione G. Monasterio CNR-Regione Toscana,Pisa,Italy
Alessia Pepe
Affiliations:
Fondazione G. Monasterio CNR-Regione Toscana,Pisa,Italy
EHA Library. Meloni A. Jun 15, 2019; 267190; PS1573
Dr. Antonella Meloni
Dr. Antonella Meloni
Contributions
Abstract

Abstract: PS1573

Type: Poster Presentation

Presentation during EHA24: On Saturday, June 15, 2019 from 17:30 - 19:00

Location: Poster area

Background
Transfusion-dependent-thalassemia (TDT) is the most severe clinical presentation of β-thalassemia. It is characterized by extremely diverse clinical manifestations, further complicated by the inclusion in TDT group of the patients with TI patients who started regular transfusion in adult age. Determination of factors causing such a diverse clinical presentation has clinical significance.

Aims

Our study aimed to investigate if the presence of a β°/β° homozygous genotype was associated to increased iron overload and rate of complications.

Methods
We considered 747 TDT patients enrolled in the Myocardial Iron Overload in Thalassemia (MIOT) project. Magnetic Resonance Imaging (MRI) was used to quantify iron overload (T2* technique), biventricular morphological and functional parameters (cine sequences), and the presence of myocardial fibrosis (late gadolinium enhancement-LGE technique). All complications were classified according to international guidelines.

Results

Two groups of patients were identified: non homozygous β°/β° genotype (N=493) and homozygous β°/ β° genotype (N=254).

No significant differences for sex was found between the groups while the homozygous β°/β° group was significantly older (30.8±8.9 yrs vs 29.1±9.4 yrs; P=0.009) and showed a significant higher frequency of transfusions in the past 12 months (41.7±11.8 vs 37.4±11.2; P<0.0001).

Mean haemoglobin levels, serum ferritin levels, liver transaminases and MRI liver iron concentration (LIC) values were comparable between the groups. Patients with homozygous β°/β° genotype had a significant higher frequency of liver fibrosis, also adjusting for age (12.4% vs 3.2%; P=0.015).

The homozygous β°/β° group showed significantly lower global heart T2* values (26.6±13.0 ms vs 30.1±11.6 ms; P=0.001) and a higher  number of patients with a global heart T2* value<20 ms (33.1% vs 21.3%; P<0.0001).

Left ventricular (LV) stroke volume index was significantly lower in the homozygous β°/β° group, also adjusting for age and number of transfusions (52.1±10.1 ml/m2 vs 54.4±11.7 ml/m2; P=0.001).

No difference between groups was detected in terms of frequency of diabetes, osteoporosis, hypogonadism, and hypoparathyroidism while frequency of hypothyroidism was significantly higher in the homozygous β°/β° group, also adjusting for age (23.4% vs 13.5%, P=0.004)

Frequency of heart failure was comparable between groups while the frequency of arrhythmias was significantly higher in the homozygous β°/β° group (7.8% vs 1.9%; P=0.001).

Conclusion
Patients with β°/β° homozygous genotype had more cardiac iron and showed an higher frequency of liver fibrosis, hypothyroidism, and arrhythmias. These data support the knowledge of different phenotypic groups in the management of TDT patients.

Session topic: 27. Thalassemias

Keyword(s): Complications, Genotype, Iron overload, Magnetic resonance imaging

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