Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma

Kini, Jyoti R. and *, Saraswathy Sreeram and Hegde, Anupama and Kamath, Sowmini P and Pai, Radha R. (2017) Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma. Journal of Clinical and Diagnostic Research, 11 (9). ED14-ED15. ISSN 0973-709X

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Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease. Peripheral smear revealed microcytic hypochromic cells and nucleated red cells with haemolytic blood picture. Thalassaemia trait was indicated on haemoglobin variant analysis using High Performance Liquid Chromatography. Liver biopsy, bone marrow aspirate and therapeutic splenectomy revealed Gaucher-like cells. Type 1 Gaucher disease can be clinically asymptomatic as well as present with massive liver and spleen enlargement and involvement of bone marrow. Anaemia, splenomegaly and thrombocytopenia are the usual presentations at diagnosis, similar to the haemoglobinopathies. Gaucher-like cells with normal beta-glucocerebrosidase (pseudo-Gaucher cells) are seen in thalassaemia, leukaemia, mycobacterial infections and myeloma. Gaucher disease coexisting with thalassaemia trait is uncommon. We report the occurrence of thalassaemia trait and Gaucher disease in a child, which resulted in confusion regarding the haematological diagnosis. This report highlights the necessity of independent establishment of the diagnosis in every patient so that appropriate management decisions are taken.

Item Type: Article
Uncontrolled Keywords: Haemoglobinopathies, Hepatosplenomegaly, Storage disorders
Subjects: Medicine > KMC Mangalore > Paediatrics
Medicine > KMC Mangalore > Pathology
Medicine > KMC Mangalore > Biochemistry
Depositing User: KMCMLR User
Date Deposited: 04 Oct 2017 10:05
Last Modified: 04 Oct 2017 10:05

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