Brief Report: Chromosome-21 and Paroxysmal Nocturnal Hemoglobinuria
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چکیده
منابع مشابه
Chromosome-21 and Paroxysmal Nocturnal Hemoglobinuria.
LTHOUGH great strides have been made in the past decade in both cytogenetics and biochemical genetics, the location of genes on the 44 autosomes has remained unknown. The experiments of nature in which an additional chromosome-21 is present and where a portion of this chromosome has been deleted have provided, for the first time, a clue to the possible location of some autosomal genes. The stud...
متن کاملParoxysmal nocturnal hemoglobinuria.
Paroxysmal Nocturnal Hemoglobinuria (PNH) literally means to have episodes of hemoglobin in the urine during the night. It is a Coomb's negative rare hemolytic disorder characterized by non-malignant clonal expansion of haemopoietic stem cells due to acquired genetic mutations. A 30 years old male patient presented with 5 years history of transfusion dependent anemia with intermittent episodes ...
متن کاملParoxysmal nocturnal hemoglobinuria.
Keywords Disease name and synonym Definition and Differential Diagnosis Etiology Clinical Description Diagnostic Methods Epidemiology Management References Abstract Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disorder of the bone marrow characterized by the lack (total or partial) of all proteins normally attached to the cell membrane by the glycosylphosphatidylinositol (GPI...
متن کاملParoxysmal nocturnal hemoglobinuria.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare bone marrow failure disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59, leads to uncontrolled complement activation that accounts for hemolysis and other PNH manifestations. GPI anchor protein deficiency is almost alw...
متن کاملParoxysmal Nocturnal Hemoglobinuria
Paroxysmal nocturnal hemoglobinuria (PNH) is a complex hematological disorder resulting in a quite unique clinical syndrome. In fact, the typical clinical presentation encompasses three distinct hematological manifestations, i.e., hemolytic anemia, bone marrow failure and thrombophilia (Dunn et al 2000; Parker & Ware 2003; Notaro & Luzzatto 2003). Thus, the term PNH covers only one feature of t...
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ژورنال
عنوان ژورنال: Blood
سال: 1964
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v24.2.160.160