Abstract
ABSTRACT: In this study we have carried out α-globin gene mapping, hemoglobin (Hb) Bart's quantitation serum bilirubin, and red blood cell indices determination in a group of Sardinian appropriate for gestational age premature infants (from 32 to 35 wk gestation) in order to define the incidence in this population of the different α-thalassemia syndromes, their expression rate, and the correlation between the α-globin genotype and phenotype at this developmental stage. The gene frequencies of deletion (-α) and nondeletion (ααth) α-thalassemia were 0.29 and 0.04, respectively, and thus not different from those found in full-term newborns from the same population. The majority of premature newborns with a single α-globin gene deletion [(-α/αα) genotype] were hematologically silent. Those who manifested increased Hb Bart's (1.2 to 3.4%) had slightly reduced Hb levels (17.4 ± 2.6 g/dl), mean corpuscular volume (102.6 ± 6.3 fl), and mean corpuscular Hb (34.8 ± 2.0 pg) values. Those infants with the deletion of two α-globin structural genes (-α/-α) showed without exception moderate amount of Hb Bart's in the 3.5-8.1% range and an obvious decrease of Hb levels (16.1 ± 1.6 g/dl) mean corpuscular Hb (30.6 ± 3.5 pg), and mean corpuscular volume (88.5 ± 11.5 fl) values. The only infant with the deletion of 3 α-globin structural genes had 25% Hb Bart's associated with a moderate microcytic anemia at birth and developed the clinical picture of Hb H disease. Carriers of nondeletion α-thalassemia (αα/ααth) showed variable amount of Hb Bart's always associated with thalassemia-like red cell indices. Higher Hb Bart's levels were observed in those subjects carrying the initiation codon mutation of the α2 gene as compared with carriers of other nondeletion α-thalassemia defects.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Maccioni, L., Galanello, R., Ruggeri, R. et al. α-Thalassemia in Premature Newborns. Pediatr Res 20, 1077–1081 (1986). https://doi.org/10.1203/00006450-198611000-00003
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1203/00006450-198611000-00003