A Rare Case of Homozygous HbE With Coinherited Alpha-Thalassemia and Hb Constant Spring in a Neonate Reveals a Mild Hematologic Phenotype.

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.