Congenital dyserythropoietic anemia in China: a case report from two families and a review

Abstract

Congenital dyserythropoietic anemias (CDAs) are a group of hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts in the bone marrow. Most cases of CDA, caused by a wide spectrum of mutations, have been reported from Europe and Mediterranean countries, while a few cases have been described in China. Here, we present three cases of CDA, one from one family and two from a second unrelated family, with typical morphologic features and clinical presentations. Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). This study suggests that more patients with CDA, sharing a phenotype and genetic background like those of European and Mediterranean origin, remain to be diagnosed and reported in China.

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores

“…The prevalence of CDA II in Europe shows substantial variations between different countries , but it exhibited the highest value in Italy, where a founder effect has been demonstrated . To date, 66 different mutations in 142 unrelated cases have been reported .…”

Collagen Nanofibers Facilitated Presynaptic Maturation in Differentiated Neurons from Spinal-Cord-Derived Neural Stem Cells through MAPK/ERK1/2-Synapsin I Signaling Pathway

“…57 The goal of biochemical modifications is to immobilize biologically active molecules on nanofibrous scaffolds surfaces to induce specific cell and tissue responses. 58 The existence of collagen on the surface provides uninterrupted cell recognition signals, which is essential for cell function and development, including cellular attachment, survival, proliferation, differentiation, and the maintenance of normal functions in its native state. 59 Certain features of electrospun nanofibrous scaffolds such as their hydrophilicity, swelling ratio, and elasticity can be tailored to mimic the native microenvironment required for spinal cord engineering.…”

“…Collagen I is widely available from bovine, porcine, or, more recently, recombinant sources . The goal of biochemical modifications is to immobilize biologically active molecules on nanofibrous scaffolds surfaces to induce specific cell and tissue responses . The existence of collagen on the surface provides uninterrupted cell recognition signals, which is essential for cell function and development, including cellular attachment, survival, proliferation, differentiation, and the maintenance of normal functions in its native state .…”

Ultrastructural characteristics of erythroid cells in congenital dyserythropoietic anemia type II, with a focus on peripheral cisternae and double membranes

“…Chinese patients usually suffer from moderate anemia (hemoglobin from 5.5 to 12.2 g/dL), chronic hemolysis, splenomegaly, and jaundice, and in some cases, iron overload due to multiple blood transfusions. 3,4 Defining morphologic features of CDA II include erythroid hyperplasia, binuclearity, and chromatin bridging in erythroblasts, a positive acidified serum lysis test (Ham test) and an autosomal recessive character due to bi-allelic mutations in the SEC23B gene (20p11.23). [5][6][7] Peripheral cisternae and discontinuous double membranes (PCDMs) are a distinctive feature of erythroid cells in CDA II as seen by transmission electron microscopy (TEM).…”