title: A novel case of haemoglobin H disease associated with clinical and morphological characteristics of congenital dyserythropoietic anaemia type I.
abstract: We report, for the first time, an unusual case of congenital anaemia with the clinical diagnosis of haemoglobin H disease complicated by morphological features at the light and electron microscopy level very similar to those of CDA-I. The red cell indices and the globin chain biosynthetic ratio were not characteristic of the defective haemoglobin genotype. The haematological, clinical and morphological data strongly suggest the novel coexistence of the two defects in a patient. The disease is characterised by a unique dyserythropoietic phenotype of diagnostic importance, which possibly brings new data regarding the reciprocal interaction between the two diseases, especially concerning a specific abnormality in globin chain synthesis in CDA-I, as previously suggested.
authors.affiliation: Department of Cell Biology and Biophysics, Faculty of Biology, University of Athens, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Antonelou
authors.forename: I S
authors.initials: IS
authors.lastname: Papassideri
authors.forename: F
authors.initials: F
authors.lastname: Karababa
authors.forename: M
authors.initials: M
authors.lastname: Gyparaki
authors.forename: A
authors.initials: A
authors.lastname: Loutradi
authors.forename: L H
authors.initials: LH
authors.lastname: Margaritis
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D005914:Globins / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics / Q000473:pathology*
chemical_list: D005914:Globins