Alpha thalassemia, but not β
Adolescent
Adult
Aged
Anemia, Sickle Cell
/ blood
Arterial Occlusive Diseases
/ epidemiology
Brazil
/ epidemiology
Child
Cholelithiasis
/ epidemiology
Female
Fetal Hemoglobin
/ analysis
Follow-Up Studies
Haplotypes
/ genetics
Hemolysis
Humans
Leg Ulcer
/ epidemiology
Male
Mutation
Stroke
/ epidemiology
Treatment Outcome
Young Adult
alpha-Thalassemia
/ blood
beta-Globins
/ genetics
Anemia
Cholelithiasis
Genetic modifies
Haplotypes
Priapism
Sickle cell disease
Stroke
α-Thalassemia
Journal
Annals of hematology
ISSN: 1432-0584
Titre abrégé: Ann Hematol
Pays: Germany
ID NLM: 9107334
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
received:
28
08
2020
accepted:
03
02
2021
pubmed:
16
2
2021
medline:
26
3
2021
entrez:
15
2
2021
Statut:
ppublish
Résumé
Alpha thalassemia and beta-globin haplotype are considered classical genetic disease modifiers in sickle cell anemia (SCA) causing clinical heterogeneity. Nevertheless, their functional impact on SCA disease emergence and progression remains elusive. To better understand the role of alpha thalassemia and beta-globin haplotype in SCA, we performed a retrospective study evaluating the clinical manifestations of 614 patients. The univariate analysis showed that the presence of alpha-thalassemia -3.7-kb mutation (αα/-α and -α/-α) decreased the risk of stroke development (p = 0.046), priapism (p = 0.033), and cholelithiasis (p = 0.021). Furthermore, the cumulative incidence of stroke (p = 0.023) and cholelithiasis (p = 0.006) was also significantly lower for patients carrying the alpha thalassemia -3.7-kb mutation. No clinical effects were associated with the beta-globin haplotype analysis, which could be explained by the relatively homogeneous haplotype composition in our cohort. Our results reinforce that alpha thalassemia can provide protective functions against hemolysis-related symptoms in SCA. Although, several genetic modifiers can impact the inflammatory state of SCA patients, the alpha thalassemia mutation remains one of the most recurrent genetic aberration and should therefore always be considered first.
Identifiants
pubmed: 33586016
doi: 10.1007/s00277-021-04450-x
pii: 10.1007/s00277-021-04450-x
doi:
Substances chimiques
beta-Globins
0
Fetal Hemoglobin
9034-63-3
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
921-931Subventions
Organisme : Conselho Nacional de Desenvolvimento Científico e Tecnológico
ID : #483714/2013-5
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