Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France

We retrospectively reviewed the clinical records of 228 HbS/β<sup>+</sup>-thal patients. The different genotypes were distributed into three groups according to their mean residual HbA levels: <10 % (group 1; n = 22), between 10 and 20 % (group 2; n = 175) and > 20 % (group 3; n = 31). Routine red blood cells and hemoglobin parameters were compared between the three groups. Sixteen different sickle β<sup>+</sup>-thal genotypes were identified but only four of them were associated with a residual HbA level below 10 %. Patients of this group exhibited a more severe anemia (Hb < 10 g/dL; reticulocytes >200 G/L) compared to the two other groups. However, no difference could be observed on those parameters between patients of group 2 and 3, as well as for the main RBC parameters. According to our study, >80 % of the sickle β<sup>+</sup>-thalassemia patients in France have a residual HbA level beyond 10 % and a mild to moderate anemia. Only four β<sup>+</sup>-thal variations (all affecting the splicing process) would lead to a potentially severe SCD syndrome in association with HbS (HbA < 10 %) but this result should be confirmed in a prospective clinical study.

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Journal
Blood Cells Molecules and Diseases
Published
2025-03-31
DOI
https://doi.org/10.1016/j.bcmd.2025.102923
Primary Topic
Hemoglobinopathies and Related Disorders
Type
article
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article

Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France

Ketty Lee, Victor Bobée, E. Bernit, Frédéric Galactéros et al.
Blood Cells Molecules and Diseases
Hemoglobinopathies and Related Disorders
article

Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France

Ketty Lee, Victor Bobée, E. Bernit, Frédéric Galactéros, C.B. Baltus, Serge Pissard, Céline Renoux, Philippe Connes, Julian Boutin, Corinne Pondarré, Bichr Allaf, Nathalie Couque, P. Joly, Patricia Aguilar-Martínez, Estelle Cadet, Véronique Picard, Muriel Giansily-Blaizot, Stéphane Moutereau
article en

Abstract

We retrospectively reviewed the clinical records of 228 HbS/β<sup>+</sup>-thal patients. The different genotypes were distributed into three groups according to their mean residual HbA levels: <10 % (group 1; n = 22), between 10 and 20 % (group 2; n = 175) and > 20 % (group 3; n = 31). Routine red blood cells and hemoglobin parameters were compared between the three groups. Sixteen different sickle β<sup>+</sup>-thal genotypes were identified but only four of them were associated with a residual HbA level below 10 %. Patients of this group exhibited a more severe anemia (Hb < 10 g/dL; reticulocytes >200 G/L) compared to the two other groups. However, no difference could be observed on those parameters between patients of group 2 and 3, as well as for the main RBC parameters. According to our study, >80 % of the sickle β<sup>+</sup>-thalassemia patients in France have a residual HbA level beyond 10 % and a mild to moderate anemia. Only four β<sup>+</sup>-thal variations (all affecting the splicing process) would lead to a potentially severe SCD syndrome in association with HbS (HbA < 10 %) but this result should be confirmed in a prospective clinical study.

Blood Cells Molecules and DiseasesVol. 112
Université Claude Bernard Lyon 1 (FR), Inserm (FR), Université Paris-Est Créteil (FR), Centre Hospitalier Universitaire de Bordeaux (FR), Centre Hospitalier Universitaire Henri-Mondor (FR), Centre Hospitalier Universitaire Amiens-Picardie (FR), Assistance Publique – Hôpitaux de Paris (FR), Hospices Civils de Lyon (FR), Laboratoire National de Référence (MA), Hôpital Pellegrin (FR), Hôpital Robert-Debré (FR), Hôpitaux Universitaires Henri-Mondor (FR), Centre Hospitalier Universitaire Pointe-à-Pitre (GP), Laboratoire Interuniversitaire de Biologie de la Motricité (FR), Centre Hospitalier Universitaire de Rouen (FR), Hôpital Intercommunal de Créteil (FR), Institut Mondor de Recherche Biomédicale (FR), Bicêtre Hospital (FR), Université de Rouen Normandie (FR)
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