Single-cell analysis of erythropoiesis in Rpl11 haploinsufficient mice reveals insight into the pathogenesis of Diamond Blackfan anemia

Diamond-Blackfan anemia (DBA) is a congenital macrocytic anemia. Since mutations resulting in the haploinsufficiency of one of 19 ribosomal proteins cause the same clinical phenotype – marrow erythroid hypoplasia, low reticulocyte count, low red cell numbers, low hemoglobin, low hematocrit, high mean cell volume (MCV), and normal or near normal white blood cell and platelet counts [1, 2] – shared pathways that are uniquely important for red cell differentiation must be impac ted. As an example, ribosomal protein imbalance can increase p53 activity, which preferentially impairs red cell differentiation [3-6].

Source: Experimental Hematology - February 21, 2021 Category: Hematology Authors: Raymond T. Doty, Xiaowei Yan, Changting Meng, Christopher Lausted, Qiang Tian, Janis L. Abkowitz Source Type: research