Table 2.
Phenotype, prevalence, and genetic characteristics of hereditary elliptocytosis.
| Phenotype | Distribution/prevalence | Gene | Membrane protein | Hereditary | Disease severity |
|---|---|---|---|---|---|
| HE | Africa, Mediterranean, or Southeast Asia: 1%–2% | EPB41 (5%) | protein 4.1 | AD | Heterozygous: none to mild Homozygous or compound heterozygous: moderate to severe |
| SPTA1 (65%) | α spectrin | AD | |||
| SPTB (30%) | β spectrin | AD | |||
| HPP | SPTA1 | α spectrin | AR | Severe | |
| SAO | Southeast Asia: 5%–25% | SLC4A1 | Band 3 | AD | None to mild |
HE = hereditary elliptocytosis, HPP = hereditary pyropoikilocytosis, SAO = southeast asian ovalocytosis, AD = autosomal dominant, AR = autosomal recessive.