TABLE 1

Erythrocyte Membrane Proteins Involved in HS

ProteinGeneChromosomal LocationPercentage of HS CasesTypical SeverityInheritance
Ankyrin-1ANK18p11.240–50Mild to moderateAutosomal dominant
Band 3SLC4A117q2120–35Mild to moderateAutosomal dominant
β-spectrinSPTB14q23-24.115–30Mild to moderateAutosomal dominant
α-spectrinSPTA11q22-23<5SevereAutosomal recessive
Protein 4.2EPB4215q15-21<5Mild to moderateAutosomal recessive