Hereditary spherocytosis classification: Difference between revisions
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==Overview== | ==Overview== | ||
The [[hereditary spherocytosis]] classified into 05 subtypes on the basis of underlying [[Protein|protein defect]] including; [[Ankyrin|ankyrin 1]], [[Spectrin|spectrin beta chain (erythrocytic)]], [[Spectrin, alpha 1|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== | ==Classification== | ||
* Hereditary | * [[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 | * Classification of [[hereditary spherocytosis]] on the basis of underlying [[protein]] [[defect]] | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
| Line 22: | Line 22: | ||
|- | |- | ||
| SPH1 | | SPH1 | ||
| ANK1 | | [[ANK1]] | ||
| Ankyrin-1 | | [[Ankyrin|Ankyrin-1]] | ||
| AD/AR | | [[Autosomal dominant|AD]]/[[Autosomal recessive|AR]] | ||
| mild-moderate/moderately severe-severe | | mild-moderate/moderately severe-severe | ||
| often transfusion dependant | | often [[Blood transfusion|transfusion]] dependant | ||
|- | |- | ||
| SPH2 | | SPH2 | ||
| SPTB | | [[SPTB]] | ||
| Spectrin beta chain,erythrocytic | | [[Spectrin|Spectrin beta chain]],[[Red blood cell|erythrocytic]] | ||
| AD/AR | | [[Autosomal dominant|AD]]/[[Autosomal recessive|AR]] | ||
| mild-moderate/severe | | mild-moderate/severe | ||
| 1 fatal infantile case described | | 1 [[Mortality rate|fatal]] [[Infant|infantile]] case described | ||
|- | |- | ||
| SPH3 | | SPH3 | ||
| SPTA1 | | [[SPTA1]] | ||
| Spectrin alpha chain,erythrocytic1 | | [[Spectrin, alpha 1|Spectrin alpha chain]],[[Red blood cell|erythrocytic1]] | ||
| AR | | [[Autosomal recessive|AR]] | ||
| severe | | severe | ||
| transfusion dependant | | [[Blood transfusion|transfusion]] dependant | ||
|- | |- | ||
| SPH4 | | SPH4 | ||
| SLC4A1 | | [[SLC4A11|SLC4A1]] | ||
| Band3(anion transport protein) | | [[Band 3|Band3]]([[Ion|anion]] [[transport protein]]) | ||
| AD | | [[Autosomal dominant|AD]] | ||
| mild-moderate | | mild-moderate | ||
| certain SLC4A1 variants cause disease only when biallelic | | certain [[SLC4A11|SLC4A1]] variants [[Causality|cause]] [[disease]] only when [[Allele|biallelic]] | ||
|- | |- | ||
| SPH5 | | SPH5 | ||
| EPB42 | | EPB42 | ||
| Protein 4.2 | | [[Protein 4.2]] | ||
| AR | | [[Autosomal recessive|AR]] | ||
| mild-moderate | | mild-moderate | ||
| 1 moderately severe case described | | 1 moderately severe [[Causality|case]] described | ||
|} | |} | ||
* Classification of hereditary spherocytosis on the basis of clinical severity.<ref name="Bolton-Maggs2004">{{cite journal|last1=Bolton-Maggs|first1=P H B|title=Hereditary spherocytosis; new guidelines|journal=Archives of Disease in Childhood|volume=89|issue=9|year=2004|pages=809–812|issn=0003-9888|doi=10.1136/adc.2003.034587}}</ref>{{cite web |url=http://www.ncbi.nlm.nih.gov/books/NBK1116/ |title=GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}<ref name="pmid3105174">{{cite journal| author=Duboucher C, Milhau S, Bouissou H| title=Isolated amyloidosis of the atrioventricular valves. A study of one case, curiously associated with diffuse storage of plant wax paraffin. | journal=Virchows Arch A Pathol Anat Histopathol | year= 1987 | volume= 410 | issue= 6 | pages= 541-5 | pmid=3105174 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3105174 }}</ref><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> | * Classification of [[hereditary spherocytosis]] on the basis of [[clinical]] severity.<ref name="Bolton-Maggs2004">{{cite journal|last1=Bolton-Maggs|first1=P H B|title=Hereditary spherocytosis; new guidelines|journal=Archives of Disease in Childhood|volume=89|issue=9|year=2004|pages=809–812|issn=0003-9888|doi=10.1136/adc.2003.034587}}</ref>{{cite web |url=http://www.ncbi.nlm.nih.gov/books/NBK1116/ |title=GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}<ref name="pmid3105174">{{cite journal| author=Duboucher C, Milhau S, Bouissou H| title=Isolated amyloidosis of the atrioventricular valves. A study of one case, curiously associated with diffuse storage of plant wax paraffin. | journal=Virchows Arch A Pathol Anat Histopathol | year= 1987 | volume= 410 | issue= 6 | pages= 541-5 | pmid=3105174 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3105174 }}</ref><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> | ||
{| class="wikitable" | {| class="wikitable" | ||
| Line 66: | Line 66: | ||
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Severe}} | ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Severe}} | ||
|- | |- | ||
! Hemoglobin (g/dl) | ! [[Hemoglobin]] (g/dl) | ||
| 110-150 | | 110-150 | ||
| 80-120 | | 80-120 | ||
| 60-80 | | 60-80 | ||
|- | |- | ||
! Reticulocyte count (%) | ! [[Reticulocyte|Reticulocyte count]] (%) | ||
| 3-6 | | 3-6 | ||
| >6 | | >6 | ||
| >10 | | >10 | ||
|- | |- | ||
! Bilirubin (ug/l) | ! [[Bilirubin]] (ug/l) | ||
| 17-34 | | 17-34 | ||
| >34 | | >34 | ||
| >51 | | >51 | ||
|- | |- | ||
! Splenectomy | ! [[Splenectomy]] | ||
| usually not required | | usually not required | ||
| indicated during school age, usually before puberty | | indicated during school age, usually before [[puberty]] | ||
| necessary - delay until 6 years of age if possible | | necessary - delay until 6 years of [[Ageing|age]] if possible | ||
|} | |} | ||
Latest revision as of 20:39, 2 December 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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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
The hereditary 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.