Sökning: "congenital dyserythropoietic anemia"

Hittade 2 avhandlingar innehållade orden congenital dyserythropoietic anemia.

1. 1. Congenital Dyserythropoietic Anemia type III (CDA III) : diagnostics, genetics and morbidity

   Författare :Maria Liljeholm; Anders Wahlin; Richard Rosenquist Brandell; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; congenital dyserythropoietic anemia; KIF23; hereditary hemochromatosis; iron overload; flow cytometry;

   Sammanfattning : The Congenital Dyserythropoietic Anemias (CDA) are rare hereditary hemolytic disorders with large bi- to multi-nucleated erythroblasts in the bone marrow. Hemolysis is negative in a direct antiglobulin test (DAT). Based on morphology and clinical picture, three major forms of CDAs, type I, II, and III have been defined. LÄS MER

3. 2. Mitotic Kinesin-Like Protein 1 (MKLP1/KIF23) in hereditary congenital dyserythropoietic anemia type III and in cancer

   Författare :Ann-Louise Vikberg; Irina Golovleva; Monica Holmberg; Masanori Mishima; Pontus Aspenström; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alternative splicing; Cell division; COPI; Congenital dyserythropoietic anemia; Cytokinesis; Gene expression; KIF23 protein human; Cancer; MKLP1 protein mouse; Mutation; medicinsk genetik; Medical Genetics;

   Sammanfattning : A hereditary form of autosomal dominant congenital dyserythropoietic anaemiatype III (CDA III) has been reported in four families from Sweden, Argentina, Cuba and USA. CDA III patients might experience signs of mild anaemia and some of them need occasional blood transfusions. LÄS MER