Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient
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چکیده
منابع مشابه
Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia.
Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 dise...
متن کاملCongenital dyserythropoietic anemia type III.
BACKGROUND AND OBJECTIVES Congenital dyserythropoietic anemia type III (CDA-III) is a group of very rare disorders characterized by similar bone marrow morphology. The clinical picture is characterized by hemolytic anemia and dramatic bone marrow changes dominated by active erythropoiesis with big multinucleated erythroblasts. The aim of this review is to describe the clinical manifestations, l...
متن کاملGenetic Heterogeneity of Congenital Dyserythropoietic Anemia Type II
Congenital dyserythropoietic anemia type II (CDA-II, CDAN2, or HEMPAS) (MIM224100) is an autosomal recessive trait and it represents the most frequent form of congenital dyserythropoiesis.1 It is characterized by normocytic anemia, variable jaundice, and hepatosplenomegaly. Gallbladder disease and secondary hemochromatosis are frequent complications. Bone marrow histology shows binucleated and ...
متن کاملGenetic Heterogeneity of Congenital Dyserythropoietic Anemia Type II
Congenital dyserythropoietic anemia type II (CDA-II, CDAN2, or HEMPAS) (MIM224100) is an autosomal recessive trait and it represents the most frequent form of congenital dyserythropoiesis.1 It is characterized by normocytic anemia, variable jaundice, and hepatosplenomegaly. Gallbladder disease and secondary hemochromatosis are frequent complications. Bone marrow histology shows binucleated and ...
متن کاملGenetic heterogeneity of congenital dyserythropoietic anemia type I.
Congenital dyserythropoietic anemia type II (CDA-II, CDAN2, or HEMPAS) (MIM224100) is an autosomal recessive trait and it represents the most frequent form of congenital dyserythropoiesis.1 It is characterized by normocytic anemia, variable jaundice, and hepatosplenomegaly. Gallbladder disease and secondary hemochromatosis are frequent complications. Bone marrow histology shows binucleated and ...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2019
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.2018.209858