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
The h ereditary Spherocytosis classified into 05 subtypes on the basis of underlying protein defect including; ankyrin 1, spectrin beta chain (erythrocytic), spectrin alpha chain (erythrocytic 1), band 3 and protein 4.2. It is also classified on the basis of clinical severity into mild, moderate and severe subtypes.
Classification
- Hereditary Spherocytosis is classified on basis of underlying defect in protein and also on the basis of severity of hemolysis.
- Classification of hereditary spherocytosis on the basis of underlying protein defect
| Locus | Gene | Protein | Inheritance | Severity | Comment |
|---|---|---|---|---|---|
| SPH1 | ANK1 | Ankyrin-1 | AD/AR | mild-moderate/moderately severe-severe | often transfusion dependant |
| SPH2 | SPTB | Spectrin beta chain,erythrocytic | AD/AR | mild-moderate/severe | 1 fatal infantile case described |
| SPH3 | SPTA1 | Spectrin alpha chain,erythrocytic1 | AR | severe | transfusion dependant |
| SPH4 | SLC4A1 | Band3(anion transport protein) | AD | mild-moderate | certain SLC4A1 variants cause disease only when biallelic |
| SPH5 | EPB42 | Protein 4.2 | AR | mild-moderate | 1 moderately severe case described |
- Classification of hereditary spherocytosis on the basis of clinical severity.[1]"GeneReviews® - NCBI Bookshelf".[2][3]
| Classification | Mild | Moderate | Severe |
|---|---|---|---|
| Hemoglobin (g/dl) | 110-150 | 80-120 | 60-80 |
| Reticulocyte count (%) | 3-6 | >6 | >10 |
| Bilirubin (ug/l) | 17-34 | >34 | >51 |
| Splenectomy | usually not required | indicated during school age, usually before puberty | necessary - delay until 6 years of age if possible |
References
- ↑ Bolton-Maggs, P H B (2004). "Hereditary spherocytosis; new guidelines". Archives of Disease in Childhood. 89 (9): 809–812. doi:10.1136/adc.2003.034587. ISSN 0003-9888.
- ↑ 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.