Thalassaemia trait with gaucher disease

A diagnostic dilemma

Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)ED14-ED15
JournalJournal of Clinical and Diagnostic Research
Volume11
Issue number9
DOIs
Publication statusPublished - 01-09-2017

Fingerprint

Gaucher Disease
Thalassemia
Glucosylceramidase
Liver
Bone Marrow
Bone
Pallor
Hemoglobinopathies
Failure to Thrive
Splenomegaly
Splenectomy
Biopsy
Thrombocytopenia
High performance liquid chromatography
Anemia
Leukemia
Hemoglobins
Spleen
History
High Pressure Liquid Chromatography

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

Cite this

Kini, Jyoti Ramnath ; Sreeram, Saraswathy ; Hegde, Anupama ; Kamath, Sowmini ; Pai, Radha Ramachandra. / Thalassaemia trait with gaucher disease : A diagnostic dilemma. In: Journal of Clinical and Diagnostic Research. 2017 ; Vol. 11, No. 9. pp. ED14-ED15.
@article{15d8816e266f466eb4e994e95c7b6052,
title = "Thalassaemia trait with gaucher disease: A diagnostic dilemma",
abstract = "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.",
author = "Kini, {Jyoti Ramnath} and Saraswathy Sreeram and Anupama Hegde and Sowmini Kamath and Pai, {Radha Ramachandra}",
year = "2017",
month = "9",
day = "1",
doi = "10.7860/JCDR/2017/31008.10650",
language = "English",
volume = "11",
pages = "ED14--ED15",
journal = "Journal of Clinical and Diagnostic Research",
issn = "2249-782X",
publisher = "Journal of Clinical and Diagnostic Research",
number = "9",

}

Thalassaemia trait with gaucher disease : A diagnostic dilemma. / Kini, Jyoti Ramnath; Sreeram, Saraswathy; Hegde, Anupama; Kamath, Sowmini; Pai, Radha Ramachandra.

In: Journal of Clinical and Diagnostic Research, Vol. 11, No. 9, 01.09.2017, p. ED14-ED15.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Thalassaemia trait with gaucher disease

T2 - A diagnostic dilemma

AU - Kini, Jyoti Ramnath

AU - Sreeram, Saraswathy

AU - Hegde, Anupama

AU - Kamath, Sowmini

AU - Pai, Radha Ramachandra

PY - 2017/9/1

Y1 - 2017/9/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85030634388&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85030634388&partnerID=8YFLogxK

U2 - 10.7860/JCDR/2017/31008.10650

DO - 10.7860/JCDR/2017/31008.10650

M3 - Article

VL - 11

SP - ED14-ED15

JO - Journal of Clinical and Diagnostic Research

JF - Journal of Clinical and Diagnostic Research

SN - 2249-782X

IS - 9

ER -