Premium
A novel case of haemoglobin H disease associated with clinical and morphological characteristics of congenital dyserythropoietic anaemia type I
Author(s) -
Antonelou M.,
Papassideri I. S.,
Karababa F.,
Gyparaki M.,
Loutradi A.,
Margaritis L. H.
Publication year - 2002
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1034/j.1600-0609.2002.01590.x
Subject(s) - abnormality , disease , phenotype , genotype , clinical phenotype , anemia , biology , pathology , medicine , genetics , gene , psychiatry
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.