Hereditary spherocytosis classification: Difference between revisions
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==Classification== | ==Classification== | ||
{| class="wikitable" | |||
| colspan="1" rowspan="2" |SPH1 | |||
| colspan="1" rowspan="2" |''ANK1'' | |||
| colspan="1" rowspan="2" |Ankyrin-1 | |||
| colspan="1" rowspan="1" |AD | |||
| colspan="1" rowspan="1" |Mild -moderate | |||
| colspan="1" rowspan="1" | | |||
|- | |||
| colspan="1" rowspan="1" |AR | |||
| colspan="1" rowspan="1" |Moderately severe -severe | |||
| colspan="1" rowspan="1" |Often transfusion dependent | |||
|- | |||
| colspan="1" rowspan="2" |SPH2 | |||
| colspan="1" rowspan="2" |''SPTB'' | |||
| colspan="1" rowspan="2" |Spectrin beta chain, erythrocytic | |||
| colspan="1" rowspan="1" |AD | |||
| colspan="1" rowspan="1" |Mild -moderate | |||
| colspan="1" rowspan="1" | | |||
|- | |||
| colspan="1" rowspan="1" |AR | |||
| colspan="1" rowspan="1" |Severe | |||
| colspan="1" rowspan="1" |1 fatal infantile case described | |||
|- | |||
| colspan="1" rowspan="1" |SPH3 | |||
| colspan="1" rowspan="1" |''SPTA1'' | |||
| colspan="1" rowspan="1" |Spectrin alpha chain, erythrocytic 1 | |||
| colspan="1" rowspan="1" |AR | |||
| colspan="1" rowspan="1" |Severe | |||
| colspan="1" rowspan="1" |Transfusion dependent | |||
|- | |||
| colspan="1" rowspan="1" |SPH4 | |||
| colspan="1" rowspan="1" |''SLC4A1'' | |||
| colspan="1" rowspan="1" |Band 3 (anion transport protein) | |||
| colspan="1" rowspan="1" |AD | |||
| colspan="1" rowspan="1" |Mild -moderate | |||
| colspan="1" rowspan="1" |Certain ''SLC4A1'' pathogenic variants cause disease only when biallelic. | |||
|- | |||
| colspan="1" rowspan="1" |SPH5 | |||
| colspan="1" rowspan="1" |''EPB42'' | |||
| colspan="1" rowspan="1" |Protein 4.2 2 | |||
| colspan="1" rowspan="1" |AR | |||
| colspan="1" rowspan="1" |Mild -moderate 3 | |||
| colspan="1" rowspan="1" |1 moderately severe case described | |||
|} | |||
==References== | ==References== | ||
Revision as of 19:27, 29 July 2018
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Hereditary spherocytosis Microchapters |
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Differentiating Hereditary spherocytosis from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Hereditary spherocytosis classification On the Web |
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American Roentgen Ray Society Images of Hereditary spherocytosis classification |
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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
| 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 |