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Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia.
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias.
Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)
Defects in hemoglobin production (as in thalassemia, sickle-cell disease and congenital dyserythropoietic anemia)
Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis.
Majeed syndrome is an inherited skin disorder characterized by chronic multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis.
Some well-known hemoglobin variants such as sickle-cell anemia and congenital dyserythropoietic anemia are responsible for diseases, and are considered hemoglobinopathies.
Congenital dyserythropoietic anemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia.
The test involves placing red blood cells in mild acid; a positive result (increased RBC fragility) indicates PNH or Congenital dyserythropoietic anemia.
GeneReview/NIH/UW entry on Majeed syndrome (Chronic recurrent multifocal osteomyelitis, chronic dyserythropoietic anemia, and transient inflammatory dermatosis)
Congenital dyserythropoietic anemia type IV (CDA IV) has been described with typical morphologic features of CDA II but a negative acidified-serum test.
Congenital dyserythropoietic anemia type III (CDA III) is a rare autosomal dominant disorder characterized by macrocytic anemia, bone marrow erythroid hyperplasia and giant multlnucleate erythroblasts.
Congenital dyserythropoietic anemia type I (CDA I) is a disorder of blood cell production, particularly of the production of erythroblasts, which are the precursors of the red blood cells (RBCs).
Congenital dyserythropoietic anemia type II (CDA II), or HEMPAS is a rare genetic anemia in humans characterized by hereditary erythroblastic multinuclearity with positive acidified serum lysis test.