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

IF 2.1 4区医学 Q3 HEMATOLOGY

Blood Cells Molecules and Diseases Pub Date : 2025-03-29 DOI:10.1016/j.bcmd.2025.102923

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

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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, >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.

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来源期刊

Blood Cells Molecules and Diseases 医学-血液学

CiteScore

4.90

自引率

0.00%

发文量

审稿时长

14 days

期刊介绍： Blood Cells, Molecules & Diseases emphasizes not only blood cells, but also covers the molecular basis of hematologic disease and studies of the diseases themselves. This is an invaluable resource to all those interested in the study of hematology, cell biology, immunology, and human genetics.