Childhood and Adolescent Cancer in the State of Pernambuco, Brazil

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Plain Language Summary Background: Neonatal microcytosis may reveal complex hemoglobinopathy combinations requiring molecular clarification. Observation: We describe a neonate with homozygous HbE coinherited with α-thalassemia (−3.7 kb deletion) and Hb Constant Spring on the other allele. At birth, marked microcytosis with mild anemia prompted haemoglobin analysis. Despite initial concerns raised by the multiple hemoglobin gene anomalies, follow-up remained asymptomatic, with persistent microcytosis and relative erythrocytosis. Family screening showed that both parents had HbAE. The father carried Hb Constant Spring and the −3.7 deletion, enabling genotype-phenotype correlations. Conclusion: Systematic investigation of neonatal microcytosis can identify rare compound disorders and support tailored follow-up. Plain Language SummaryThis case report describes a newborn with marked microcytosis (small red blood cells) and mild anemia found to have a rare combination of hemoglobin disorders. The infant had homozygous HbE together with α-thalassemia due to a −3.7 kb deletion and Hb Constant Spring on the other allele. Despite the complex genotype, the child remained clinically well, with persistent microcytosis and relative erythrocytosis during follow-up. Family screening showed both parents had HbAE, and the father also carried Hb Constant Spring and the −3.7 kb deletion. The report highlights that systematic investigation of neonatal microcytosis can uncover rare compound hemoglobinopathies and guide individualized long-term monitoring. Text is machine generated and may contain inaccuracies. FAQ

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