Neonatal Med.  2023 Nov;30(4):102-107. 10.5385/nm.2023.30.4.102.

Beta Thalassemia Presenting with Neonatal Cholestasis and Extensive Hemosiderosis: A Case Report

• Jung CG
• Lee JH
• Kim YB

• KMID: 2548300
• DOI: http://doi.org/10.5385/nm.2023.30.4.102

Abstract

Neonatal cholestasis is caused by various forms of liver injury and has a complex etiological background. Among these, cases of severe cholestasis due to primary hemolytic disease are rare. Herein, we report a case in which thalassemia-induced severe hemolysis caused bile duct injury by hemosiderosis, with cholestasis occurring shortly after birth and lasting for >4 months. In addition, complete recovery of liver pathology was observed both biochemically and histologically. Hence, clinicians should consider hemolytic disease as a rare cause of neonatal cholestasis in the differential diagnosis of neonates as well as the advisability of conservative treatment based on case progression.

Keyword

Cholestasis; Hemosiderosis; Beta thalassemia; Hemoglobinopathies; Hemolysis

Figure

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  Figure 1. Results of the second liver biopsy and the liver biopsy at the 1-year follow-up. (A) The second biopsy displayed evidence of multifocal extramedullary hematopoiesis and septal and perisinusoidal fibrosis (yellow arrows), indicating neonatal hemochromatosis. These findings correspond with Masson trichrome staining (×200). (B) The second biopsy exhibited diffuse deposition of hemosiderin within hepatocytes (red arrows), consistent with iron staining (×200). The biopsy conducted 1 year later demonstrated improvements in both (C) Masson trichrome staining and (D) iron staining (C, D: ×200).

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  Figure 2. (A) Temporal changes in biochemical laboratory markers of cholestasis. (B) Temporal changes in hematologic markers of hemoglobinopathy and hemolysis. Abbreviations: AST, aspartate transaminase; ALT, alanine transaminase; r-GT, gamma-glutamyl transferase; MCV, mean corpuscular volume.

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