Hematological phenotypes in children according to the α-globin genotypes
Origa, Raffaella;Anni, Franco;Moi, PaoloLast
2018-01-01
Abstract
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.File | Size | Format | |
---|---|---|---|
blood_cells_2018.pdf Solo gestori archivio
Type: versione editoriale
Size 376.7 kB
Format Adobe PDF
|
376.7 kB | Adobe PDF | & nbsp; View / Open Request a copy |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.