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2026, Number 1

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Rev Mex Pediatr 2026; 93 (1)

Autosomal dominant type 2 elliptocytosis

Sánchez-Pinzón CA, Atencia-Herrera CM, Sánchez-Tordecilla MM, Puerta-Lara MC, Corredor-Motta JP

Language: Spanish
References: 23
Page: 36-40
PDF size: 756.77 Kb.


ABSTRACT

Introduction: hereditary elliptocytosis (HE) is a rare disorder of the erythrocyte membrane, with wide clinical and genetic heterogeneity. Although most patients have a mild course, some may present severe hemolytic anemia from the neonatal period. We present the case of a pediatric patient with autosomal dominant type 2 HE, treated in Cartagena, Colombia. Case description: a male infant presented in the neonatal period with severe hemolytic anemia, jaundice, and recurrent transfusion requirements. Initial studies ruled out immunological and infectious causes. The peripheral blood smear showed poikilocytosis and morphological alterations suggestive of erythrocyte membrane abnormalities. As part of the diagnostic workup, molecular analysis was performed using a genetic panel, identifying a heterozygous pathogenic variant in the SPTA1 gene (NM_003126.2:c.83G>A; p.Arg28His), thus confirming the diagnosis. The patient has experienced episodes of hemolysis related to respiratory infections but has maintained adequate growth and development. Conclusions: type 2 HE should be considered in the differential diagnosis of neonatal non-immune hemolytic anemia. Genetic testing is essential for diagnostic confirmation.


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