Clinical, laboratory, and molecular characteristics of a cohort of children with hemoglobinopathy S/betathalassemia
ABSTRACT Introduction: Hemoglobinopathy Sβ-thalassemia (HbSβ-thal) has a wide range of clinical and laboratory severity. There is limited information on the natural history of HbSβ-thal and its modulating factors. We described the molecular, hematological, and clinical characteristics of a cohort of...
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Published in | Hematology, transfusion and cell therapy Vol. 46; no. 2; pp. 167 - 175 |
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2024
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Abstract | ABSTRACT Introduction: Hemoglobinopathy Sβ-thalassemia (HbSβ-thal) has a wide range of clinical and laboratory severity. There is limited information on the natural history of HbSβ-thal and its modulating factors. We described the molecular, hematological, and clinical characteristics of a cohort of children with HbSβ-thal and estimated its incidence in Minas Gerais, Brazil. Methods: Laboratory and clinical data were retrieved from medical records. Molecular analysis was performed by HBB gene sequencing, PCR-RFLP, gap-PCR, and MLPA. Results: Eighty-nine children were included in the study. Fourteen alleles of β-thal mutations were identified. The incidence of HbSβ-thal in the state was 1 per 22,250 newborns. The most common βS-haplotypes were CAR and Benin. The most frequent βthal-haplotypes were V, II, and I. Coexistence of 3.7 kb HBA1/HBA2 deletion was present in 21.3 % of children. β-thalassemia mutations were associated with several clinical and laboratory features. In general, the incidence of clinical events per 100 patient-years was similar for children with HbSβ0-thal, IVS-I-5 G>A, and IVS-I-110 G>A. Children with HbSβ+-intermediate phenotypes had a more severe laboratory and clinical profile when compared with those with HbSβ+-mild ones. βS-haplotypes and α-thalassemia did not meaningfully influence the phenotype of children with HbSβ-thal. Conclusion: The early identification of b-thalassemia alleles may help the clinical management of these children. © 2023 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier España, S.L.U. This is an open access article under the CC BY-NC-ND license |
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AbstractList | ABSTRACT Introduction: Hemoglobinopathy Sβ-thalassemia (HbSβ-thal) has a wide range of clinical and laboratory severity. There is limited information on the natural history of HbSβ-thal and its modulating factors. We described the molecular, hematological, and clinical characteristics of a cohort of children with HbSβ-thal and estimated its incidence in Minas Gerais, Brazil. Methods: Laboratory and clinical data were retrieved from medical records. Molecular analysis was performed by HBB gene sequencing, PCR-RFLP, gap-PCR, and MLPA. Results: Eighty-nine children were included in the study. Fourteen alleles of β-thal mutations were identified. The incidence of HbSβ-thal in the state was 1 per 22,250 newborns. The most common βS-haplotypes were CAR and Benin. The most frequent βthal-haplotypes were V, II, and I. Coexistence of 3.7 kb HBA1/HBA2 deletion was present in 21.3 % of children. β-thalassemia mutations were associated with several clinical and laboratory features. In general, the incidence of clinical events per 100 patient-years was similar for children with HbSβ0-thal, IVS-I-5 G>A, and IVS-I-110 G>A. Children with HbSβ+-intermediate phenotypes had a more severe laboratory and clinical profile when compared with those with HbSβ+-mild ones. βS-haplotypes and α-thalassemia did not meaningfully influence the phenotype of children with HbSβ-thal. Conclusion: The early identification of b-thalassemia alleles may help the clinical management of these children. © 2023 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier España, S.L.U. This is an open access article under the CC BY-NC-ND license |
Author | Oliveira, Larissa Maira Moura Viana, Marcos Borato Belisário, André Rolim Rezende, Paulo Val Silva, Natiely Pereira Velloso-Rodrigues, Cibele Oliveira, Érica Louback Muniz, Maristela Braga |
AuthorAffiliation | Universidade Federal de Juiz de Fora Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD) Fundação Hemominas |
AuthorAffiliation_xml | – name: Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD) – name: Universidade Federal de Juiz de Fora – name: Fundação Hemominas |
Author_xml | – sequence: 1 givenname: Érica Louback surname: Oliveira fullname: Oliveira, Érica Louback organization: Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD) – sequence: 2 givenname: André Rolim surname: Belisário fullname: Belisário, André Rolim organization: Fundação Hemominas – sequence: 3 givenname: Natiely Pereira surname: Silva fullname: Silva, Natiely Pereira organization: Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD) – sequence: 4 givenname: Paulo Val surname: Rezende fullname: Rezende, Paulo Val organization: Fundação Hemominas – sequence: 5 givenname: Maristela Braga surname: Muniz fullname: Muniz, Maristela Braga organization: Fundação Hemominas – sequence: 6 givenname: Larissa Maira Moura surname: Oliveira fullname: Oliveira, Larissa Maira Moura organization: Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD) – sequence: 7 givenname: Cibele surname: Velloso-Rodrigues fullname: Velloso-Rodrigues, Cibele organization: Fundação Hemominas – sequence: 8 givenname: Marcos Borato surname: Viana fullname: Viana, Marcos Borato organization: Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD) |
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Keywords | Hemoglobin Sβ0-thalassemia Alpha-thalassemia Hemoglobin Sβ-thalassemia Hemoglobin Sβ+-thalassemia Sickle cell disease |
Language | Portuguese |
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Snippet | ABSTRACT Introduction: Hemoglobinopathy Sβ-thalassemia (HbSβ-thal) has a wide range of clinical and laboratory severity. There is limited information on the... |
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Title | Clinical, laboratory, and molecular characteristics of a cohort of children with hemoglobinopathy S/betathalassemia |
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