Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.

Introduction: Congenital dyserythropoietic anemias are rare blood disorders characterized by congenital anemia and a wide range of morphological and functional abnormalities of erythroid precursors.

Objectives: To analyze the relative frequency of both light microscopic (LM) and electron microscopic (EM) morphological features of erythroblasts in a large group of patients with molecular proven congenital dyserythropoietic anemia type I (CDAI).

Methods: We retrospectively evaluated the LM and EM of bone marrow (BM) erythroblasts in 35 patients with CDAI.

Hb TAYBE: clinical and morphological findings IN 43 patients.

Unlabelled: Hereditary sequence variants in globin genes are usually silent and are rarer in α-globin chains than β-globin chains. Some may lead to an unstable protein with a hemolytic or thalassemic phenotype. Hb Taybe is an unstable α-chain hemoglobin variant caused by the deletion of a threonine residue at codon 38 or 39 of the α1 globin gene.

E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.

Objective: Congenital dyserythropoietic anemia (CDA) is characterized by ineffective erythropoiesis, binuclearity of erythroid precursors and secondary hemochromatosis. Recently, the gene mutated in CDA type II (CDA II), SEC23B, was identified. All Israeli patients with CDA II are of North African (mainly Moroccan) Jewish descent.

Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.

Background: Congenital dyserythropoietic anemia type I is an inherited autosomal recessive macrocytic anemia associated with ineffective erythropoiesis and the development of secondary hemochromatosis. Distinct erythroid precursors with internuclear chromatin bridges and spongy heterochromatin are pathognomonic for the disease. The mutated gene (CDAN1) encodes a ubiquitously expressed protein of unknown function, codanin-1.

Acute basophilic leukaemia: eight unsuspected new cases diagnosed by electron microscopy.

We report eight new patients with de novo acute basophilic leukaemia (ABL) diagnosed by electron microscopy (EM) in 184 patients with poorly differentiated AML who were selected for ultrastructural analysis between the years 1989 and 2002. Morphology by light microscopy, cytochemistry, immunophenotyping and cytogenetics did not enable an accurate diagnosis in any of these patients. In almost all the patients, the blasts showed reactivity for HLA-DR and CD34.

New sporadic case of congenital dyserythropoietic anemia type III in an aged woman: detailed description of ultrastructural findings.

We describe a new case of congenital dyserythropoietic anemia (CDA) type III. This least common type of CDA was diagnosed at the age of 59 in a 70-year-old woman who suffered from a young age from mild macrocytic anemia, while the long follow up since diagnosis documented a benign clinical course. No family history of blood diseases was obtained and no anemia was documented in the medical records of any of her four children.