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 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 β^S-haplotypes were CAR and Benin. The most frequent β^thal-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. β^S-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

Keywords:
Sickle cell disease; Hemoglobin Sβ-thalassemia; Hemoglobin Sβ⁺-thalassemia; Hemoglobin Sβ⁰-thalassemia; Alpha-thalassemia