Primary sea-blue histiocytosis is a rare syndrome. Secondary or acquired sea-blue histiocytosis occurs in a wide array of hematologic and systemic disorders, rarely these cells have been found in cases of thalassemia. A case of sea-blue histiocytosis in a patient of thalassemia is being reported for its rarity.

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  • * The case study illustrates a patient with kappa chain myeloma who exhibited Gaucher-like crystal-storing histiocytosis in bone marrow, identified through various methods including biopsy and next generation sequencing (NGS).
  • * Findings indicated the presence of distinct rhomboid crystals and several genetic mutations linked to poorer survival rates in myeloma patients, suggesting that pathologists should consider crystal-storing histiocytosis when identifying such crystals in bone marrow.
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Bone marrow smear showing histiocytes (black arrow) containing sea blue granules stained with May-Grünwald Giemsa.

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Sea-blue histiocytosis.

Ann Pathol

March 2024

Pediatric Surgery Department, Complejo Asistencial Universitario de León, León, Spain.; Hospital Universitario de Navarra, Pamplona, Navarra, Spain. Electronic address:

A 78-year-old woman with hypertrophic cardiomyopathy underwent a septal myomectomy and valve replacement. In the immediate postoperative period she developed shock of mixed etiology and died. At autopsy, hepatomegaly and splenomegaly were identified, with PAS and Giemsa positive intracellular ceroid granular deposits.

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Background: The chronic visceral subtype of acid sphingomyelinase deficiency, commonly known as Niemann Pick disease type B (NPDB), is a relatively rare autosomal recessive genetic disorder that is caused by mutations in the SMPD1 gene. NPDB with sea-blue histiocytes (SBH) clinically mimics Budd-Chiari syndrome (BCS), as it lacks specific clinical characteristics. This makes its diagnosis difficult.

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Although isolated trisomy 9, a form of chromosome aneuploidy, is rare in acute myeloid leukemia (AML), up to 30 cases of AML involving isolated trisomy 9 have been reported to date. We report the case of a 77-year-old female with AML, in which trisomy 9 was detected as an isolated aberration. In addition, the patient's bone marrow displayed so-called sea-blue histiocytosis.

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