Alpha thalassemia, but not βS-globin haplotypes, influence sickle cell anemia clinical outcome in a large, single-center Brazilian cohort
| Autor: | Marcondes José de Vasconcelos Costa Sobreira, Aderson S Araujo, Antonio R. Lucena-Araujo, Flávia Peixoto Albuquerque, Isabela Cristina Cordeiro Farias, Danízia Menezes de Lima Silva, Diego A Pereira-Martins, Manuela Albuquerque de Melo, Bruna Vasconcelos de Ancântara, Gabriela da Silva Arcanjo, Diego Arruda Falcão, Ana Claudia Mendonça dos Anjos, A. S. Araújo, Magnun N. N. Santos, Rodrigo Marcionilo Santana, Thais Helena Chaves Batista, Isabel Weinhäuser, Jéssica Vitória Gadelha de Freitas Batista, Betânia Lucena Domingues Hatzlhofer, Ana Beatriz Lucas de Moura Rafael, Luana Priscilla Laranjeira Prado, Igor de Farias Domingos, Fernando Ferreira Costa, Marcos André Cavalcanti Bezerra, Juan L Coelho-Silva, Jéssica Maria Florencio Oliveira |
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| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Univariate analysis Anemia business.industry Haplotype Retrospective cohort study Hematology General Medicine Alpha-thalassemia medicine.disease Gastroenterology Sickle cell anemia 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases 030220 oncology & carcinogenesis Internal medicine Cohort medicine Cumulative incidence business 030215 immunology |
| Zdroj: | Annals of Hematology. 100:921-931 |
| ISSN: | 1432-0584 0939-5555 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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