Hereditary spherocytosis—defects in proteins that connect the membrane skeleton to the lipid bilayer
S Eber, SE Lux - Seminars in hematology, 2004 - Elsevier
The molecular causes of hereditary spherocytosis (HS) have been unraveled in the past
decade. No frequent defect is found, and nearly every family has a unique mutation. In
dominant HS, nonsense and frameshift mutations of ankyrin, band 3, and β-spectrin
predominate. Recessive HS is most often due to compound heterozygosity of defects in
ankyrin, α-spectrin, or protein 4.2. Common combinations include a defect in the promoter or
5′-untranslated region of ankyrin paired with a missense mutation, a low expression allele …
decade. No frequent defect is found, and nearly every family has a unique mutation. In
dominant HS, nonsense and frameshift mutations of ankyrin, band 3, and β-spectrin
predominate. Recessive HS is most often due to compound heterozygosity of defects in
ankyrin, α-spectrin, or protein 4.2. Common combinations include a defect in the promoter or
5′-untranslated region of ankyrin paired with a missense mutation, a low expression allele …