Hereditary Elliptocytosis

Hereditary elliptocytosis (HE) is a highly variable red cell membrane disorder with many clinical subtypes. Its occurrence is 1:4000 in the population, affecting all racial and ethnic groups.10 The inheritance is usually autosomal dominant. At the heart of this membrane defect is a disordered or deficient spectrin and proteins commonly associated with the alpha and beta spectrin regions. A decreased thermal stability occurs in each of the clinical subtypes.

Elliptocytes are present to varying degrees in each of the following subtypes, and their red cell deformability is affected with degrees of hemolysis. Four clinical subtypes are discussed: common HE, Southeast Asian ovalocytosis, spherocytic HE, and hereditary pyropoikilocytosis.

Common Hereditary Elliptocytosis

The clinical variants under this subheading range from those individuals who are silent carriers to those who are transfusion dependent. Individuals with the silent carrier state of HE are hematologically normal but are known to be related to individuals with HE and hereditary pyropoikilocytosis through family studies. Common HE has two clinical presentations. In mild common HE, 30% to 100%1 of the cells are elliptical and most patients show no clinical symptoms (Fig. 7.4). Some patients may show slight hemolysis with ellipto-cytes and fragmented cells. The more severe variant of common HE, common HE with infantile pyropoikilo-cytosis, shows fragmented and bizarre red cell shapes from birth with a moderate hemolytic component and jaundice. As the patient ages, the disease converts to a mild HE in presentation (Table 7.1).

Southeast Asian Ovalocytosis

A common red cell condition in many of the Melanesian and Malaysian populations, the red cells of this particular subgroup are spoon-shaped and appear to have two bars across their center. Hemolysis may or may not be present, and this shape may give mild protection against all species of malaria.11 The red cells with this disorder are strongly heat resistant and rigid and are able to maintain their shape under temperatures that cause normal red cells to crenate or burst. This auto-

Table 7.1

Variants of Common

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