title: Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases.
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.
authors.affiliation: Department of Immuno-hematology, Faculty of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Miri-Moghaddam
authors.forename: Arash
authors.initials: A
authors.lastname: Velayati
authors.forename: Majid
authors.initials: M
authors.lastname: Naderi
authors.forename: Nahid
authors.initials: N
authors.lastname: Tayebi
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D006402:Hematologic Diseases / Q000235:genetics; D006801:Humans; D040582:Inheritance Patterns; D007492:Iran; D008875:Middle Aged; D009154:Mutation; D016896:Treatment Outcome; D017085:alpha-Thalassemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*