Peretz Resnitzky1,2, Dina Shaft1, Hanna Shalev3,4, Joseph Kapelushnik4,5, Orly Dgany6,7, Tanya Krasnov6, Hannah Tamary6,7,8. 1. Efrati Research Laboratory for Blood Cells and Cytology, Kaplan Medical Center, Rehovot, Israel. 2. Hebrew University School of Medicine, Jerusalem, Israel. 3. Pediatric Division, Soroka Medical Center, Beer Sheva, Israel. 4. Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel. 5. Department of Pediatric Hematology-Oncology, Soroka Medical Center, Beer Sheva, Israel. 6. Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Beilinson Hospital, Petach Tikva, Israel. 7. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 8. Hematology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Abstract
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. Thirty-four patients carried the CDAN1 Arg1042Trp founder mutation and one the p.Pro1130Leu mutation. BM slides of 24 patients were available for LM examination. EM studies were performed in all 35 patients. RESULTS: On LM, marked erythroid hyperplasia, binuclear erythroblasts, and various non-specific dyserythropoietic features were documented in every case; internuclear chromatin bridges were detected in 19 patients (79%). In all, EM of erythroblasts revealed a spongy appearance of heterochromatin, a widening of nuclear pores, and invagination of cytoplasm into the nuclear region. CONCLUSIONS: EM studies revealed high morphological frequency of specific ultrastructural changes in erythroblasts which facilitate prompt diagnosis of CDAI. Due to low specificity of BM LM findings, when BM EM is unavailable diagnostic approach should also include other inherited anemias.
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. Thirty-four patients carried the CDAN1Arg1042Trp founder mutation and one the p.Pro1130Leu mutation. BM slides of 24 patients were available for LM examination. EM studies were performed in all 35 patients. RESULTS: On LM, marked erythroid hyperplasia, binuclear erythroblasts, and various non-specific dyserythropoietic features were documented in every case; internuclear chromatin bridges were detected in 19 patients (79%). In all, EM of erythroblasts revealed a spongy appearance of heterochromatin, a widening of nuclear pores, and invagination of cytoplasm into the nuclear region. CONCLUSIONS: EM studies revealed high morphological frequency of specific ultrastructural changes in erythroblasts which facilitate prompt diagnosis of CDAI. Due to low specificity of BM LM findings, when BM EM is unavailable diagnostic approach should also include other inherited anemias.
Authors: Jessica A Meznarich; Lauren Draper; Robert D Christensen; Hassan M Yaish; Nick D Luem; Theodore J Pysher; Grace Jung; Elizabeta Nemeth; Tomas Ganz; Diane M Ward Journal: Blood Cells Mol Dis Date: 2018-03-20 Impact factor: 3.039