What question did this study set out to answer?

To examine the presence of elliptocytosis in children diagnosed with X-linked sideroblastic anemia and its relation to historical findings.

April 3, 2026Pediatric Blood & Cancer0 citations

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Cooley's Legacy Endures—Elliptocytes in X‐Linked Sideroblastic Anemia due to Aminolevulinate Synthase 2 Mutations

ACAlex CiurejChildren's Hospital of Michigan SSSüreyya SavaşanCentral Michigan University KBKanta BhambhaniCentral Michigan University

Key Points

To examine the presence of elliptocytosis in children diagnosed with X-linked sideroblastic anemia and its relation to historical findings.
Analyzed red cell morphology in three children with XLSA.
Conducted histograms of red cell band 3 content.
Compared findings to descriptions of hereditary elliptocytosis.
All three children exhibited prominent elliptocytosis.
Red cell band 3 content histograms were similar to those in hereditary elliptocytosis.
Findings support Cooley's descriptions of elliptocytosis from 1945.

Abstract

ABSTRACT X‐linked sideroblastic anemia (XLSA) is categorized as hypochromic microcytic anemia. In 3 children with XLSA, we observed prominent elliptocytosis, and red cell band 3 content histograms were similar to those found in hereditary elliptocytosis, thus validating Cooley's descriptions in 1945.

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Cooley's Legacy Endures—Elliptocytes in X‐Linked Sideroblastic Anemia due to Aminolevulinate Synthase 2 Mutations

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