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Beta Thalassemia Major with Gaucher's Disease: A Rare Entity.

著者 Bai N , Nasir S , Ahmed J , Malik F , Bin Arif T
Cureus.2019 Jul 20 ; 11(7):e5179.
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Thalassemia is a genetic disorder due to deletion or mutation in the gene for alpha or beta chain of hemoglobin. Gaucher's disease (GD) is characterized by a deficiency of a lysosomal enzyme, glucocerebrosidase which occurs due to mutations in the GBA1 gene on chromosome 1. Thalassemia and GD have overlapping clinical manifestations and present with features such as anemia, hepatosplenomegaly, and skeletal involvement. This creates a diagnostic conundrum for physicians. We present a case of an 11-month-old female who presented with fever, increasing paleness, and labored breathing. She had a recent history of uncross-matched transfusion. The child showed signs of anemic failure. Physical exam findings strongly pointed towards hemolytic anemia due to thalassemia major. Genetic analysis confirmed homozygosity in Fr 8-9 mutation confirming beta thalassemia major. Bicytopenia along with visceromegaly indicated malaria or storage diseases. Enzyme analysis revealed low levels of beta-glucocerebrosidase with normal acid sphingomyelinase levels confirming GD. In our case, we report the association of beta thalassemia major with GD which is a rare entity. The report highlights the need for an independent assessment of disorders that have similar presentations to avoid missing an associated disorder.
PMID: 31565589 [PubMed]
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