Hematological phenotypes in children according to the α-globin genotypes

• Published in: Blood cells, molecules, & diseases Vol. 69; pp. 102 - 106
• Main Authors: Origa, Raffaella, Barella, Susanna, Paglietti, Maria Elisabetta, Anni, Franco, Danjou, Fabrice, Denotti, Anna Rita, Desogus, Maria Franca, Loi, Daniela, Orecchia, Valeria, Sollaino, Maria Carla, Moi, Paolo
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.03.2018
• Subjects: Adolescent; Alpha globin genes; Alpha thalassemia; alpha-Globins - genetics; alpha-Thalassemia - blood; alpha-Thalassemia - diagnosis; alpha-Thalassemia - genetics; Biomarkers; Child; Child, Preschool; Erythrocyte Indices; Female; Fetal Hemoglobin - genetics; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Hematological phenotypes; Hematopoiesis - genetics; Humans; Infant; Male; Microcytosis; Normal values; Phenotype; Microcytosis; Normal values; Alpha globin genes; Hematological phenotypes; Alpha thalassemia
• ISSN: 1079-9796; 1096-0961
• DOI: 10.1016/j.bcmd.2017.10.003

Limited information is available on the hematological characterization of the α-thalassemia carrier in pediatric age. The objective of this report was to evaluate the red cell indices according to the α-globin genotype in a cohort of children evaluated in Sardinia. Moreover, we verified the frequency of different α-globin genotypes in this cohort. A total of 453 subjects were investigated for hematological indices and for the most common α-globin defects present in Sardinia. Of them, 352 with HbA2≤3.2%, and no iron deficiency anemia were taken into consideration to evaluate the red cell indices according to the α-globin genotype in pediatric age. A total of 11 different α-genotypes were detected, confirming the wide heterogeneity of α-thalassemia in Sardinia. Moreover, our results showed that the hematological parameters in normal children may be conditioned by the clinically occult coinheritance of mild α-thalassemia alleles as already described in the adult population while microcytosis and hypocromia in children without iron deficiency should suggest the coexistence of two α-globin defects. We concluded that recognizing the α-globin gene mutations for a particular population with their particular red cell indices may help pediatricians to perform a correct diagnosis distinguishing among physiological and pathological types of microcytosis and hypocromia.