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

Year: 2025

Type: article

Abstract: We retrospectively reviewed the clinical records of 228 HbS/β+-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+-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, more than 80% of the sickle β+-thalassemia patients in France have a residual HbA level beyond 10% and a mild to moderate anemia. Only four β+-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.

Source: Blood Cells Molecules and Diseases

DOI: 10.1016/j.bcmd.2025.102923

Authors: Cecilia Baltus, Stéphane Moutereau, Nathalie Couque, Bichr Allaf, Muriel Giansily-Blaizot, Julian Boutin, Ketty Lee, Emmanuelle Bernit, Estelle Cadet, Victor Bobee, Véronique Picard, Serge Pissard, Frédéric Galactéros, Céline Renoux, Philippe Connes, Patricia Aguilar-Martinez, Corinne Pondarre, Philippe Joly

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,030

Funder: Hospices Civils de Lyon

OpenAlex ID: W4409011530