Hereditary spherocytosis differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Hereditary spherocytosis usually presents with hemolysis, therefore should be differentiated from other diseases including; autoimmune hemolysis, thermal injury, clostridial septicemia, wilson disease, hemoglobinopathies, hereditary stomatocytosis, congenital dyserythropoietic anemia type II, infantile pyknosis and hemolytic disease of fetus and newborn (HDFN).

Differential diagnosis

• Hereditary spherocytosis presents with hemolysis, therefore should be differentiated from following diseases.
  • Autoimmune hemolysis
    • Autoimmune hemolytic anemia (AIHA), in which autoantibodies directed against self-RBC antigens lead to hemolysis, is a common cause of hemolysis and/or anemia, especially in adults.
    • Warm AIHA associated with an underlying disorder such as systemic lupus erythematosus (SLE) or without an underlying disorder is more common than cold AIHA, which is typically triggered by an infection such as infectious mononucleosis.
    • Like hereditary spherocytosis, patients can have anemia and/or hemolysis of variable severity and abundant spherocytes on the peripheral blood smear.
    • Unlike hereditary spherocytosis, in AIHA, the Coombs test is typically positive, there is not family history of hemolytic anemia, and prior complete blood counts (CBCs) will show a normal hemoglobin level and reticulocyte count.
  • Thermal injury
  • Clostridial septicemia
  • Wilson disease
  • Hemoglobinopathies
  • Hereditary stomatocytosis
  • Congenital dyserythrpoietic anemia type II
    • CDA type II is a group of inherited anemias caused by one of several gene variants that results in abnormal RBC production in the bone marrow.
    • Like hereditary spherocytosis, some individuals may have significant hemolysis and/or splenomegaly, and some specialized tests such as EMA binding may be positive.
    • Unlike hereditary spherocytosis, individuals with one of the CDAs are likely to have characteristic morphology of RBC precursors in the bone marrow, and the reticulocyte count is usually lower in the CDAs.
  • Infantile pyknocytosis
    • It is a disorder of unknown etiology in which RBCs become hyperdense and dehydrated.
    • Like hereditary spherocytosis, this condition presents in neonates with anemia and an increased mean corpuscular hemoglobin concentration (MCHC), but unlike hereditary spherocytosis, the RBCs have irregular borders and varying numbers of projections, and the condition resolves spontaneously during the first year of life without intervention.
  • Other inherited hemolytic anemias
    • Other inherited RBC membrane disorders include hereditary elliptocytosis (HE) and elliptocytosis variants (eg, Southeast Asian ovalocytosis [SAO], hereditary pyropoikilocytosis [HPP], hereditary stomatocytosis (HSt), and hereditary xerocytosis (HX).
    • RBC enzyme disorders include glucose-6-phosphate dehydrogenase (G6PD) deficiency, pyruvate kinase (PK) deficiency, and other rarer metabolic disorders.
    • Like hereditary spherocytosis, these present with variable degrees of anemia and hemolysis and can be diagnosed at any age.
    • Unlike the other disorders, G6PD deficiency typically presents with more discreet episodes of hemolysis after exposure to oxidant drugs.
    • Unlike the other membrane disorders, which each have distinctive morphologies on the blood smear, and the enzyme disorders, which typically have nonspecific findings (eg, mild reticulocytosis), hereditary spherocytosis is characterized by spherocytosis as the predominant morphology.
  • Hemolytic disease of the fetus and newborn (HDFN)
    • Neonates may present with severe HDFN (also called neonatal alloimmune hemolytic anemia), which is caused by maternal antibodies crossing the placenta and recognize foreign fetal RBC antigens, leading to alloimmune hemolysis.
    • Like hereditary spherocytosis, neonates can present with severe jaundice and anemia requiring aggressive treatment, and HDFN can be associated with abundant spherocytes on the blood smear.
    • Unlike hereditary spherocytosis, HDFN is a transient condition that resolves after the maternal antibodies are cleared, and HDFN is characterized by positive Coombs testing, which typically reveals the alloantibodies on fetal RBCs, as well as evidence of an immunologically significant discordance between maternal and neonatal blood type.