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
- Hereditary Spherocytosis classified on basis of underlying defect in protein and also on the basis of severity of hemolysis.
Classification
- HS classified on basis of underlying defect and pattern of inheritance. [1]
| 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 |
- HS also classified on basis of severity as mentioned on the below table.[2]
| Severity | Hgb (g/dL) | Reticulocytes (%) | Splenectomy |
|---|---|---|---|
| Mild | 11-15 | 3-8 | Not necessary |
| Moderate | 8-11.5 | >8 | Consider if activity level & quality of life are decreased |
| Moderately severe | 6-8 | ≥10 | Indicated at age >5 yrs |
| Severe | <6 | ≥10 | Indicated at age >3 yrs |
| Normal 1 | 11.7-15.7 (adult females) 13.3-17.7 (adult males) | 0.5-1.5 2 |
References
- ↑ Duboucher C, Milhau S, Bouissou H (1987). "Isolated amyloidosis of the atrioventricular valves. A study of one case, curiously associated with diffuse storage of plant wax paraffin". Virchows Arch A Pathol Anat Histopathol. 410 (6): 541–5. PMID 3105174.
- ↑ Beauchamp-Nicoud A, Morle L, Lutz HU, Stammler P, Agulles O, Petermann-Khder R; et al. (2000). "Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG)". Haematologica. 85 (1): 19–24. PMID 10629586.