Role of Next-Generation Sequencing in Deciphering Congenital Hemolytic Anemia: A Case of Multiple Mutations Leading to Dual Congenital Hemolytic Anemia.

Lisa Liu, Aparna Nanduru, Amy D Stringer, Maher Ali, Samah Nassereddine

Abstract readCase Reports

In one paragraph

Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Lisa LiuHematology, George Washington University, Washington, D.C., USA.

Aparna NanduruHematology, George Washington University, Washington, D.C., USA.

Amy D StringerPharmacology, Temple University, Philadelphia, USA.

Maher AliPathology, George Washington University, Washington, D.C., USA.

Samah NassereddineHematology, George Washington University, Washington, D.C., USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Before the widespread availability of next-generation sequencing (NGS), the diagnosis of hereditary spherocytosis (HS) and dehydrated hereditary stomatocytosis (DHS) was predominantly clinical. Here, we describe a patient with both HS and DHS who was initially treated for HS until NGS revealed that she had concomitant HS and DHS, leading to a pivot in clinical management. A 21-year-old female patient presented for evaluation of hemolytic anemia during pregnancy. The patient was clinically diagnosed with HS and treated with as-needed transfusions, with a plan for splenectomy. NGS revealed both HS and DHS. Thus, splenectomy was canceled, and aspirin was started. While treatments for HS and DHS differ greatly, in this case, where the patient has both, it is critical that treatment for DHS is prioritized because of the high risk of thromboembolic events following splenectomy. Early genetic evaluation is critical to provide an accurate diagnosis and to guide appropriate management.

Indexed as

anemiacongenital hemolytic anemiadehydrated hereditary stomatocytosishereditary spherocytosisnext‑generation sequencing

Identifiers

PMID42572644

DOI10.7759/cureus.112399

PMCPMC13453320

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