학술논문
Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases.
Document Type
Academic Journal
Author
Miri-Moghaddam E; Department of Immuno-hematology, Faculty of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.; Velayati A; Naderi M; Tayebi N; Sidransky E
Source
Publisher: Academic Press Country of Publication: United States NLM ID: 9509932 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0961 (Electronic) Linking ISSN: 10799796 NLM ISO Abbreviation: Blood Cells Mol Dis Subsets: MEDLINE
Subject
Language
English
Abstract
Gaucher type 1 disease has a wide spectrum of phenotypes ranging from asymptomatic individuals to patients with massive hepatosplenomegaly and bone involvement. In most, anemia, thrombocytopenia and splenomegaly are the primary manifestations at diagnosis, findings shared by the hemoglobinopathies. Here we report the co-inheritance of α-thalassemia and Gaucher disease in a consanguineous family followed in Iran, which resulted in confusion regarding the diagnosis. This report emphasizes the need to independently establish the diagnosis of every affected member of a family to ensure appropriate management and therapeutic decisions.
(Copyright © 2010. Published by Elsevier Inc.)
(Copyright © 2010. Published by Elsevier Inc.)