Aplastic and Hypoplastic Anemias.

Abstract

1. Suzie A. Noronha, MD* 1. *Division of Pediatric Hematology/Oncology, University of Rochester, Rochester, NY * Abbreviations: AA: : aplastic anemia AML: : acute myeloid leukemia ANC: : absolute neutrophil count ARC: : absolute reticulocyte count CBC: : complete blood cell DBA: : Diamond-Blackfan anemia DC: : dyskeratosis congenita FA: : Fanconi anemia GPI: : glycosylphosphatidylinositol HSCT: : hematopoietic stem cell transplant MCV: : mean corpuscular volume MSD: : matched sibling donor MUD: : matched unrelated donor OS: : overall survival PNH: : paroxysmal nocturnal hemoglobinuria PRCA: : pure red cell aplasia SDS: : Shwachman-Diamond syndrome TEC: : transient erythroblastopenia of childhood 1. Anemia is a common finding in general pediatrics, but knowing when to refer a patient can be challenging. 2. Pediatricians do not always order reticulocyte counts as part of the evaluation of anemia. The reticulocyte count, interpreted in the context of the mean corpuscular volume, is very useful in the development of differential diagnoses for anemia and determination of urgency of referral. 3. Pediatricians (and subspecialists) may not realize that diagnosis of malignancy, particularly head and neck cancers, at an unexpectedly early age may be associated with an inherited bone marrow failure. After completing this article, readers should be able to: 1. Assess the need for referring a patient with anemia based on whether anemia is isolated or accompanied by other hematologic or physical anomalies. 2. Recognize that anemia in the setting of congenital anomalies may signify an inherited bone marrow failure disorder. 3. Understand that inherited bone marrow failure disorders confer a higher risk of malignancy. Children with anemias often initially present to their pediatricians. Anemia may result from blood loss, a destructive process (ie, hemolysis), nutritional deficiency, or poor production (eg, ineffective erythropoiesis or hypoplastic or aplastic marrow) (Table). Hemolytic and nutritional anemias have been discussed elsewhere and are referenced briefly in this article. (1)(2)(3)(4) This review focuses on the broad differential diagnosis for anemia associated with poor production. These anemias can lead to chronic morbidity and require subspecialty care, whereas others may be managed effectively in primary care. This review offers a framework to guide evaluation and the need for subspecialty investigation. View this table: TABLE . Classification of Anemias by Mechanism and Notable Associated Laboratory Data Aplastic and hypoplastic anemias are characterized …