Hereditary spherocytosis differential diagnosis

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

Overview

The differential diagnosis of HS includes a number of other hemolytic anemias with spherocytes on the peripheral blood smear:

Differential diagnosis

Infantile pyknocytosis:

• Infantile pyknocytosis is a disorder of unknown etiology in which RBCs become hyperdense and dehydrated [111]. Like HS, this condition presents in neonates with anemia and an increased mean corpuscular hemoglobin concentration (MCHC). Unlike HS, the RBCs have irregular borders and varying numbers of projections, and the condition resolves spontaneously during the first year of life (typically, six to nine months after birth) without intervention.

Congenital dyserythropoietic anemia (CDA) –

• 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 HS, some individuals may have significant hemolysis and/or splenomegaly, and like HS, some specialized tests such as EMA binding may be positive. Unlike HS, 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 [80]

Autoimmune hemolytic anemias:

• 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 HS, patients can have anemia and/or hemolysis of variable severity and abundant spherocytes on the peripheral blood smear. Unlike HS, 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.

Other inherited hemolytic anemias :

• Other inherited RBC membrane disorders include hereditary elliptocytosis (HE) (picture 3) and elliptocytosis variants (eg, Southeast Asian ovalocytosis [SAO], hereditary pyropoikilocytosis [HPP] (picture 4)), 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 HS, 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), HS 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 that cross the placenta and recognize foreign fetal RBC antigens, leading to alloimmune hemolysis. Like HS, neonates can present with severe jaundice and anemia requiring aggressive treatment, and like HS, HDFN can be associated with abundant spherocytes on the blood smear. Unlike HS, 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.