HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation.
Adolescent
Adult
Alleles
Anemia, Sickle Cell
/ diagnosis
Child
Child, Preschool
Female
Genetic Association Studies
Genotype
Hemoglobin, Sickle
/ genetics
Humans
Infant
Italy
/ epidemiology
Male
Middle Aged
Phenotype
Public Health Surveillance
Retrospective Studies
Young Adult
beta-Globins
/ genetics
beta-Thalassemia
/ diagnosis
HbS/β+ thalassemia
Italy
Sickle cell disease
children
genotype
phenotype
Journal
European journal of haematology
ISSN: 1600-0609
Titre abrégé: Eur J Haematol
Pays: England
ID NLM: 8703985
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
11
10
2019
revised:
26
11
2019
accepted:
27
11
2019
pubmed:
4
12
2019
medline:
8
10
2020
entrez:
3
12
2019
Statut:
ppublish
Résumé
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. Retrospective cohort study of HbS/β+ patients among 15 AIEOP Centres. A total of 41 molecularly confirmed S/β+ patients were enrolled (1-55 years, median 10.9) and classified on β+ 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. 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.
Substances chimiques
Hemoglobin, Sickle
0
beta-Globins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
214-222Informations de copyright
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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