Management and Diagnostic Guidelines for Hereditary Hemolytic Normocytic Anemias

Hematologic and Laboratory Characteristics

Hereditary spherocytosis characteristically presents with a normochromic, normocytic anemia, which cannot be distinguished from anemia of other chronic diseases when only mean corpuscular volume is considered【1】.
All hereditary membrane‑type hemolytic anemias (spherocytosis, elliptocytosis, stomatocytosis, xerocytosis) exhibit chronic hemolysis manifested by an elevated reticulocyte count, increased lactate dehydrogenase, reduced haptoglobin, and raised bilirubin levels【2】【3】.

Peripheral blood smears in hereditary spherocytosis commonly reveal anisocytosis and poikilocytosis, although routine examination may appear largely unremarkable【1】.
In enzyme‑deficiency hemolytic anemias such as pyruvate kinase deficiency, smear morphology is generally unremarkable, showing only mild anisocytosis and poikilocytosis【2】【3】.

Splenectomy is contraindicated in hereditary stomatocytosis and xerocytosis because it does not improve anemia and increases the risk of life‑threatening thrombosis【3】【4】【5】.
Prior to performing splenectomy in any patient with chronic hemolytic anemia, clinicians should confirm the absence of pyruvate kinase deficiency and exclude co‑existing stomatocytosis or other thrombophilic disorders【2】【3】【4】.