Rare Hereditary Hemolytic Anemias: Diagnostic Approach and Considerations in Management

Hematol Oncol Clin North Am. 2019 Jun;33(3):373-392. doi: 10.1016/j.hoc.2019.01.002. Epub 2019 Mar 29.

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.

Keywords: Congenital dyserythropoietic anemias; Rare hereditary hemolytic anemias; Red cell enzymopathies; Red cell hydration disorders; Unstable hemoglobin.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Anemia, Dyserythropoietic, Congenital / diagnosis*
  • Anemia, Dyserythropoietic, Congenital / genetics
  • Anemia, Dyserythropoietic, Congenital / therapy
  • Anemia, Hemolytic, Congenital / diagnosis*
  • Anemia, Hemolytic, Congenital / genetics
  • Anemia, Hemolytic, Congenital / therapy
  • Diagnosis, Differential
  • Erythrocytes / enzymology
  • Erythrocytes / metabolism*
  • Erythropoiesis / genetics
  • Globins / genetics
  • Humans
  • Mutation
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics
  • Rare Diseases / therapy

Substances

  • Globins