Rare Hereditary Hemolytic Anemias: Diagnostic Approach and Considerations in Management.

Mary Risinger, Myesa Emberesh, Theodosia A Kalfa

Journal: Hematology/oncology clinics of North America 2020;33(3):373-392

PMID: 31030808

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Abstract

Hereditary hemolytic anemias (HHAs) comprise a heterogeneous group of anemias caused by mutations in genes coding the globins, red blood cell (RBC) membrane proteins, and RBC enzymes. Congenital dyserythropoietic anemias (CDAs) are rare disorders of erythropoiesis characterized by binucleated and multinucleated erythroblasts in bone marrow. CDAs typically present with a hemolytic phenotype, as the produced RBCs have structural defects and decreased survival and should be considered in the differential of HHAs. This article discusses the clinical presentation, laboratory findings, and management considerations for rare HHAs arising from unstable hemoglobins, RBC hydration defects, the less common RBC enzymopathies, and CDAs.

Address: College of Nursing, University of Cincinnati, 3110 Vine Street, Cincinnati, OH 45221-0038, USA.; Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7018, Cincinnati, OH 45229-3039, USA.; Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7015, Cincinnati, OH 45229-3039, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: [email protected].

DOI: 10.1016/j.hoc.2019.01.002

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MeSH Terms: Anemia, Dyserythropoietic, Congenital, Anemia, Hemolytic, Congenital, Diagnosis, Differential, Erythrocytes, Erythropoiesis, Globins, Humans, Mutation, Rare Diseases