کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2827882 | 1162469 | 2011 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شناسی مولکولی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases](/preview/png/2827882.png)
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Blood Cells, Molecules, and Diseases - Volume 46, Issue 1, 15 January 2011, Pages 88-91
Journal: Blood Cells, Molecules, and Diseases - Volume 46, Issue 1, 15 January 2011, Pages 88-91
نویسندگان
Ebrahim Miri-Moghaddam, Arash Velayati, Majid Naderi, Nahid Tayebi, Ellen Sidransky,