Hereditary spherocytosis classification: Difference between revisions
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| colspan="1" rowspan="1" |1 moderately severe case described | | colspan="1" rowspan="1" |1 moderately severe case described | ||
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* HS also classified on basis of severity as mentioned on the below table. | * HS also classified on basis of severity as mentioned on the below table.<ref name="pmid10629586">{{cite journal| author=Beauchamp-Nicoud A, Morle L, Lutz HU, Stammler P, Agulles O, Petermann-Khder R et al.| title=Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG). | journal=Haematologica | year= 2000 | volume= 85 | issue= 1 | pages= 19-24 | pmid=10629586 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10629586 }}</ref> | ||
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Revision as of 19:38, 29 July 2018
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Hereditary spherocytosis Microchapters |
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Differentiating Hereditary spherocytosis from other Diseases |
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Hereditary spherocytosis classification On the Web |
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Risk calculators and risk factors for Hereditary spherocytosis classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
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Overview
Classification
- HS classified on basis of underlying defect and pattern of inheritance.
| 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.[1]
| 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
- ↑ 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.