Poikilocytic Anemia Associated With the Co - Inheritance of Two Alpha Spectrin Abnormalities

This report describes a black family in which two distinct structural defects of alpha spectrin were inherited singly and in combination. The propositus, who has a poikilocytic hemolytic anemia that shares many of the features of hereditary pyropoikilocytosis (HPP) or homozygous elliptocytosis. is a compound heterozygote for both the spectrin alpha”5 and spectrin alpha’ #{176} defects as demonstrated by electrophoretic analysis of spectrin tryptic fragments. The spectrin alphaUb defect alone was found in his mother and sibling. while the spectrin alpha’ #{176} defect was present in the father and another sibling. The red cell spectrin content was normal in all family members. The functional consequences of inheritance of these two spectrin defects were compared with those found in an unrelated patient with classic HPP who had the alpha #{176} spectrin defect and