Erythrocyte membrane gene defects in disorders of the erythrocyte membrane.
| Gene . | Disorder1 . | Comment . |
|---|---|---|
| Abbreviations: HS, hereditary spherocytosis; HE, hereditary elliptocytosis; HPP, hereditary pyropoikilocytosis; NIHF, nonimmune hydrops fetalis; SAO, Southeast Asian ovalocytosis. | ||
| Reprinted with permission from Gallagher PG. Disorders of erythrocyte metabolism and shape. In Hematologic Problems in the Neonate. Christensen RD (ed). WB Saunders, Philadelphia, 1999. | ||
| Ankyrin | HS | Most common cause of typical dominant HS. |
| Band 3 | HS, SAO, NIHF | “Pincered” spherocytes seen on smear presplenectomy. SAO due to 9 AA deletion. |
| α Spectrin | HS, HE, HPP, NIHF | Location of mutation in spectrin determines clinical phenotype. α spectrin mutations are most common cause of typical HE. |
| β Spectrin | HS, HE, HPP, NIHF | “Acanthocytic” spherocytes seen on smear presplenectomy. Location of mutation in spectrin determines clinical phenotype. |
| Protein 4.2 | HS | Common in recessively inherited, HS in Japan. |
| Protein 4.1 | HE | An uncommon cause of HE. |
| Glycophorin C | HE | Concomitant protein 4.1 deficiency is basis of HE in glycophorin C defects. |
| Gene . | Disorder1 . | Comment . |
|---|---|---|
| Abbreviations: HS, hereditary spherocytosis; HE, hereditary elliptocytosis; HPP, hereditary pyropoikilocytosis; NIHF, nonimmune hydrops fetalis; SAO, Southeast Asian ovalocytosis. | ||
| Reprinted with permission from Gallagher PG. Disorders of erythrocyte metabolism and shape. In Hematologic Problems in the Neonate. Christensen RD (ed). WB Saunders, Philadelphia, 1999. | ||
| Ankyrin | HS | Most common cause of typical dominant HS. |
| Band 3 | HS, SAO, NIHF | “Pincered” spherocytes seen on smear presplenectomy. SAO due to 9 AA deletion. |
| α Spectrin | HS, HE, HPP, NIHF | Location of mutation in spectrin determines clinical phenotype. α spectrin mutations are most common cause of typical HE. |
| β Spectrin | HS, HE, HPP, NIHF | “Acanthocytic” spherocytes seen on smear presplenectomy. Location of mutation in spectrin determines clinical phenotype. |
| Protein 4.2 | HS | Common in recessively inherited, HS in Japan. |
| Protein 4.1 | HE | An uncommon cause of HE. |
| Glycophorin C | HE | Concomitant protein 4.1 deficiency is basis of HE in glycophorin C defects. |