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.

A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild anemia, and neutropenia cured by bone marrow transplantation.

Objectives: Familial thrombocytopenia is a relatively rare and heterogeneous group of clinical and genetic syndromes of unknown etiology. Recently, mutations in a few hematopoietic transcription factors were implicated in dysmegakaryopoiesis with and without dyserythropoietic anemia. The aim of the present study was to describe the clinical and hematologic picture of members of a Bedouin family with severe congenital thrombocytopenia associated with neutropenia and anemia and to determine the possible involvement of hematopoietic transcription factor genes in their disease.

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.