HbS/ß+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation.
Eur J Haematol
; 104(3): 214-222, 2020 Mar.
Article
em En
| MEDLINE
| ID: mdl-31788855
ABSTRACT
OBJECTIVES:
HbS/ß+ 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/ß+ patients, with genotype-phenotype correlation, in order to offer guidance for clinical management of such patients.METHODS:
Retrospective cohort study of HbS/ß+ patients among 15 AIEOP Centres.RESULTS:
A total of 41 molecularly confirmed S/ß+ patients were enrolled (1-55 years, median 10.9) and classified on ß+ mutation IVS-I-110, IVS-I-6, promoter, and "others." Prediagnostic events included VOC 16/41 (39%), ACS 6/41 (14.6%), sepsis 3/41 (3.7%), and avascular necrosis 3/41 (7,3%). Postdiagnostic 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%), and skin ulcerations 1/41 (2.4%). The IVS-I-110 group presented the lowest median age at first SCD-related event (P = .02 vs promoter group) and the higher median number of severe events/year (0.26 events/patient/year) (P = .01 vs IVS-I-6 and promoter groups). Promoter group presented a specific skeletal phenotype. Treatment regimen applied was variable among the centers.CONCLUSIONS:
HbS/ß+ is not always a mild disease. Patients with IVS-I-110 mutation could benefit from a standard of care like SS and S/ß° patients. Standardization of treatment is needed.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Hemoglobina Falciforme
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Talassemia beta
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Globinas beta
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Genótipo
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Anemia Falciforme
Tipo de estudo:
Guideline
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article