Peripheral blood smear from patients with membrane-cytoskeleton abnormalities. A. Hereditary spherocytosis. B. Hereditary elliptocytosis, heterozygote. C. Elliptocytosis, with both alleles of the α-spectrin gene mutated. [From L Luzzatto, in J Gribben and D Pravan (eds): Molecular Hematology, 2d edition. Oxford, Blackwell, 2005; with permission.] Table 101-3 Inherited Diseases of the Red Cell MembraneCytoskeleton Gene Chromoso mal Location Protei n Produced s) Disease( with s Comment Certain Mutations (Inheritance) SPTA1 1q22-q23 αSpectrin HS (recessive) Rare. HE (dominant) of Mutations this gene account for about 65% More forms due of HE. severe may be to coexistence of an otherwise silent mutant allele. SPTB βSpectrin HS (dominant) Rare. HE (dominant) of Mutations this gene account ~30% of for HE, some including severe forms. . | Chapter 101. Hemolytic Anemias and Anemia Due to Acute Blood Loss Part 6 Peripheral blood smear from patients with membrane-cytoskeleton abnormalities. A. Hereditary spherocytosis. B. Hereditary elliptocytosis heterozygote. C. Elliptocytosis with both alleles of the a-spectrin gene mutated. From L Luzzatto in J Gribben and D Pravan eds Molecular Hematology 2d edition. Oxford Blackwell 2005 with permission. Table 101-3 Inherited Diseases of the Red Cell Membrane- Cytoskeleton Gene Chromoso mal Location Protei n Produced Disease s with Certain Mutations Comment s Inheritance SPTA1 1q22-q23 a- Spectrin HS recessive Rare. HE dominant Mutations of this gene account for about 65 of HE. More severe forms may be due to coexistence of an otherwise silent mutant allele. SPTB P- Spectrin HS dominant Rare. HE dominant Mutations of this gene account for 30 of HE including some severe forms. ANK1 Ankyr in HS dominant May account for majority of HS. SLC4A 1 17q21 Band 3 anion channel HS dominant Mutations of this gene may account for 25 of HS. Southea st Asian ovalocytosis dominant Polymorp hic mutation deletion of 9 amino acids clinically asymptomatic protective .
