OBJECTIVES: HbS/β+ patients' presence in Italy increased due to immigration; these patients are clinically heterogeneous and specific guidelines are lacking. Our aim is to describe a cohort of HbS/β+ patients, with genotype-phenotype correlation, in order to offer guidance for clinical management of such patients. METHODS: retrospective cohort study of HbS/β+ patients among 15 AIEOP Centres; RESULTS: 41 molecularly confirmed S/β+ patients were enrolled (1-55 yrs, median 10.9) and classified on β+ mutation: IVS-I-110, IVS-I-6, promoter and "others". Pre-diagnostic events included: VOC 16/41 (39%), ACS 6/41 (14.6%), sepsis 3/41 (3.7%), avascular necrosis 3/41 (7,3%). Post diagnostic events were VOC 22/41 (53.6% %), sepsis 4/41 (9.7%), ACS 4/41 (9.7%), avascular necrosis 3/41 (7.3%), aplastic crisis 2/41 (4.8%), stroke 1/41 (2.4%), ACS 1/41 (2.4%), skin ulcerations 1/41 (2.4%). The IVS-I-110 group presented the lowest median age at first SCD-related event (p=0.02 vs promoter group), the higher median number of severe events/year (0.26 events/patient/year), (p=0.01 vs IVS-I-6 and promoter groups). Promoter group presented a specific skeletal phenotype. Treatment regimen applied was variable among the centres. CONCLUSIONS: HbS/β+ is not always a mild disease. Patients with IVS-I-110 mutation could benefit from a standard of care like SS and S/β° patients. Standardization of treatment is needed.
HbS/β+ thalassemia: really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation / Notarangelo, Ld; Agostini, A; Casale, M; Samperi, P; Arcioni, F; Gorello, P; Perrotta, S; Masera, N; Barone, A; Bertoni, E; Bonetti, E; Burnelli, R; Casini, T; Del Vecchio, Gc; Filippini, B; Giona, F; Giordano, P; Gorio, C; Marchina, E; Nardi, M; Petrone, A; Colombatti, R; Sainati, L; Russo,. - In: EUROPEAN JOURNAL OF HAEMATOLOGY. - ISSN 1600-0609. - 3:104(2020), pp. 214-222. [10.1111/ejh.13362]
HbS/β+ thalassemia: really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation
Giona F;
2020
Abstract
OBJECTIVES: HbS/β+ patients' presence in Italy increased due to immigration; these patients are clinically heterogeneous and specific guidelines are lacking. Our aim is to describe a cohort of HbS/β+ patients, with genotype-phenotype correlation, in order to offer guidance for clinical management of such patients. METHODS: retrospective cohort study of HbS/β+ patients among 15 AIEOP Centres; RESULTS: 41 molecularly confirmed S/β+ patients were enrolled (1-55 yrs, median 10.9) and classified on β+ mutation: IVS-I-110, IVS-I-6, promoter and "others". Pre-diagnostic events included: VOC 16/41 (39%), ACS 6/41 (14.6%), sepsis 3/41 (3.7%), avascular necrosis 3/41 (7,3%). Post diagnostic events were VOC 22/41 (53.6% %), sepsis 4/41 (9.7%), ACS 4/41 (9.7%), avascular necrosis 3/41 (7.3%), aplastic crisis 2/41 (4.8%), stroke 1/41 (2.4%), ACS 1/41 (2.4%), skin ulcerations 1/41 (2.4%). The IVS-I-110 group presented the lowest median age at first SCD-related event (p=0.02 vs promoter group), the higher median number of severe events/year (0.26 events/patient/year), (p=0.01 vs IVS-I-6 and promoter groups). Promoter group presented a specific skeletal phenotype. Treatment regimen applied was variable among the centres. CONCLUSIONS: HbS/β+ is not always a mild disease. Patients with IVS-I-110 mutation could benefit from a standard of care like SS and S/β° patients. Standardization of treatment is needed.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
