Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Hematology"
DOI: 10.1007/s12185-018-2559-3
Abstract: Gaucher disease (GD) is caused by a hereditary deficiency of glucocerebrosidase, resulting in accumulation of glucosylceramide and potentially manifesting as hepatosplenomegaly. We report the case of a 15-month-old boy with chronic neuronopathic GD. The patient… read more here.
Keywords: microcytic hypochromic; hypochromic anemia; anemia; gaucher disease ... See more keywords
Diagnosis and molecular characterization of a novel α0‐thalassemia deletion (–Kozani) found in a Greek child with unexplained microcytic hypochromic anemia
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Laboratory Hematology"
DOI: 10.1111/ijlh.12690
Abstract: The diagnostic approach of microcytic anemia in childhood is usually uneventful and successful, as the most frequent etiologies are iron deficiency and thalassemias.1 Rare acquired and hereditary diseases affecting heme synthesis or iron metabolism have… read more here.
Keywords: microcytic hypochromic; hypochromic anemia; anemia; diagnosis ... See more keywords