Hereditary spherocytosis classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
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Overview
Classification
| SPH1 | ANK1 | Ankyrin-1 | AD | Mild -moderate | |
| AR | Moderately severe -severe | Often transfusion dependent | |||
| SPH2 | SPTB | Spectrin beta chain, erythrocytic | AD | Mild -moderate | |
| AR | Severe | 1 fatal infantile case described | |||
| SPH3 | SPTA1 | Spectrin alpha chain, erythrocytic 1 | AR | Severe | Transfusion dependent |
| SPH4 | SLC4A1 | Band 3 (anion transport protein) | AD | Mild -moderate | Certain SLC4A1 pathogenic variants cause disease only when biallelic. |
| SPH5 | EPB42 | Protein 4.2 2 | AR | Mild -moderate 3 | 1 moderately severe case described |