Hereditary spherocytosis causes: Difference between revisions
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==Overview== | ==Overview== | ||
Hereditary spherocytosis is caused by a variety of genetic mutations. The 05 genes associated with hereditary spherocytosis include; alpha spectrin (SPTA1), beta spectrin (SPTB), ankyrin (ANK1), band 3 (SLC4A1) and protein 4.2 (EPB42). Mutations in one or more of these genes can cause membrane protein deficiency leading to hereditary spherocytosis. | [[Hereditary spherocytosis]] is caused by a variety of [[Genetics|genetic]] [[Mutation|mutations]]. The 05 [[Gene|genes]] associated with [[hereditary spherocytosis]] include; [[Spectrin, alpha 1|alpha spectrin (SPTA1)]], [[Spectrin|beta spectrin (SPTB)]], [[Ankyrin|ankyrin (ANK1)]], [[band 3]] ([[SLC4A11|SLC4A1]]) and [[protein 4.2]] (EPB42). [[Mutation|Mutations]] in one or more of these [[Gene|genes]] can cause [[Cell membrane|membrane]] [[protein]] [[deficiency]] leading to [[hereditary spherocytosis]]. | ||
==Causes== | ==Causes== | ||
* Hereditary spherocytosis is caused by a variety of genetic mutations.<ref name="HeLiao2018">{{cite journal|last1=He|first1=Ben-Jin|last2=Liao|first2=Lin|last3=Deng|first3=Zeng-Fu|last4=Tao|first4=Yi-Feng|last5=Xu|first5=Yu-Chan|last6=Lin|first6=Fa-Quan|title=Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives|journal=Acta Haematologica|volume=139|issue=1|year=2018|pages=60–66|issn=0001-5792|doi=10.1159/000486229}}</ref><ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref> | * [[Hereditary spherocytosis]] is caused by a variety of [[Genetics|genetic]] [[Mutation|mutations]].<ref name="HeLiao2018">{{cite journal|last1=He|first1=Ben-Jin|last2=Liao|first2=Lin|last3=Deng|first3=Zeng-Fu|last4=Tao|first4=Yi-Feng|last5=Xu|first5=Yu-Chan|last6=Lin|first6=Fa-Quan|title=Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives|journal=Acta Haematologica|volume=139|issue=1|year=2018|pages=60–66|issn=0001-5792|doi=10.1159/000486229}}</ref><ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref> | ||
* There are 05 genes associated with hereditary spherocytosis including, alpha spectrin (SPTA1), beta spectrin (SPTB), ankyrin (ANK1), band3 (SLC4A1) and protein 4.2 (EPB42). | * There are 05 [[Gene|genes]] associated with [[hereditary spherocytosis]] including, [[Spectrin, alpha 1|alpha spectrin]] ([[SPTA1]]), [[Spectrin|beta spectrin]] ([[SPTB]]), [[ankyrin]] ([[ANK1]]), [[Band 3|band3]] ([[SLC4A11|SLC4A1]]) and [[protein 4.2]] (EPB42). | ||
* Mutations in one or more of hereditary spherocytosis related genes can cause membrane protein deficiency leading to hereditary spherocytosis. | * [[Mutation|Mutations]] in one or more of [[hereditary spherocytosis]] related [[Gene|genes]] can [[Causality|cause]] [[Cell membrane|membrane]] [[protein]] [[deficiency]] leading to [[hereditary spherocytosis]]. | ||
{| class="wikitable" | {| class="wikitable" | ||
|+Molecular and Genetic Characteristics of 5 Erythrocyte Membrane Protein Genes | |+[[Molecule|Molecular]] and [[Genetics|Genetic]] Characteristics of 5 [[Red blood cell|Erythrocyte]] [[Membrane]] [[Protein]] [[Gene|Genes]] | ||
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Gene}} | ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Gene}} | ||
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Chromosome Location}} | ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Chromosome Location}} | ||
| Line 20: | Line 20: | ||
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Associated Disease}} | ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Associated Disease}} | ||
|- | |- | ||
| ANK1 | | [[ANK1]] | ||
|8p11.2 | |[[Chromosome 8 (human)|8p11.2]] | ||
| Ankyrin-1 | | [[Ankyrin|Ankyrin-1]] | ||
| frameshift, nonsense, splicing, novel mutations | | [[Frameshift mutation|frameshift]], [[Nonsense mutation|nonsense]], [[Splicing (genetics)|splicing]], novel [[Mutation|mutations]] | ||
| autosomal dominant, autosomal recessive | | [[Dominance relationship|autosomal dominant]], [[autosomal recessive]] | ||
| hereditary spherocytosis | | [[hereditary spherocytosis]] | ||
|- | |- | ||
| SLC4A1 | | [[SLC4A11|SLC4A1]] | ||
| 17q21 | | [[Chromosome 17 (human)|17q21]] | ||
| Band3 | | [[Band 3|Band3]] | ||
| missense,frameshift,polymorphism | | [[Missense mutation|missense]],[[Frameshift mutation|frameshift]],[[polymorphism]] | ||
| autosomal dominant | | [[Dominance relationship|autosomal dominant]] | ||
| hereditary spherocytosis,distal renal tubular | | [[hereditary spherocytosis]],[[Renal tubular acidosis|distal renal tubular acidosis]] | ||
|- | |- | ||
| SPTA1 | | [[SPTA1]] | ||
| 1q22-q23 | | [[Chromosome 1 (human)|1q22-q23]] | ||
| alpha spectrin | | [[Spectrin, alpha 1|alpha spectrin]] | ||
| SpaLEPRA allele, splicing, frameshift | | SpaLEPRA [[allele]], [[Splicing (genetics)|splicing]], [[Frameshift mutation|frameshift]] | ||
| autosomal recessive | | [[autosomal recessive]] | ||
| hereditary spherocytosis, hereditary | | [[hereditary spherocytosis]], [[hereditary elliptocytosis]], [[hereditary pyropoikilocytosis]] | ||
|- | |- | ||
| SPTB | | [[SPTB]] | ||
| 14q23-q24.1 | | [[Chromosome 14 (human)|14q23-q24.1]] | ||
| beta spectrin | | [[Spectrin|beta spectrin]] | ||
| splicing, frameshift, nonsense, novel mutations | | [[Splicing (genetics)|splicing]], [[Frameshift mutation|frameshift]], [[Nonsense mutation|nonsense]], novel [[Mutation|mutations]] | ||
| autosomal dominant | | [[Dominance relationship|autosomal dominant]] | ||
| hereditary spherocytosis, hereditary | | [[hereditary spherocytosis]], [[hereditary elliptocytosis]], [[hereditary pyropoikilocytosis]] | ||
|- | |- | ||
| EBP42 | | EBP42 | ||
| 15q15-q21 | | [[Chromosome 15 (human)|15q15-q21]] | ||
| protein 4.2 | | [[protein 4.2]] | ||
| missense, nonsense | | [[Missense mutation|missense]], [[Nonsense mutation|nonsense]] | ||
| autosomal recessive | | [[autosomal recessive]] | ||
| hereditary spherocytosis | | [[hereditary spherocytosis]] | ||
|} | |} | ||
Latest revision as of 15:03, 5 December 2018
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Overview
Hereditary spherocytosis is caused by a variety of genetic mutations. The 05 genes associated with hereditary spherocytosis include; alpha spectrin (SPTA1), beta spectrin (SPTB), ankyrin (ANK1), band 3 (SLC4A1) and protein 4.2 (EPB42). Mutations in one or more of these genes can cause membrane protein deficiency leading to hereditary spherocytosis.
Causes
- Hereditary spherocytosis is caused by a variety of genetic mutations.[1][2]
- There are 05 genes associated with hereditary spherocytosis including, alpha spectrin (SPTA1), beta spectrin (SPTB), ankyrin (ANK1), band3 (SLC4A1) and protein 4.2 (EPB42).
- Mutations in one or more of hereditary spherocytosis related genes can cause membrane protein deficiency leading to hereditary spherocytosis.
| Gene | Chromosome Location | Membrane Protein | Prevalent Mutations | Heredity | Associated Disease |
|---|---|---|---|---|---|
| ANK1 | 8p11.2 | Ankyrin-1 | frameshift, nonsense, splicing, novel mutations | autosomal dominant, autosomal recessive | hereditary spherocytosis |
| SLC4A1 | 17q21 | Band3 | missense,frameshift,polymorphism | autosomal dominant | hereditary spherocytosis,distal renal tubular acidosis |
| SPTA1 | 1q22-q23 | alpha spectrin | SpaLEPRA allele, splicing, frameshift | autosomal recessive | hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis |
| SPTB | 14q23-q24.1 | beta spectrin | splicing, frameshift, nonsense, novel mutations | autosomal dominant | hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis |
| EBP42 | 15q15-q21 | protein 4.2 | missense, nonsense | autosomal recessive | hereditary spherocytosis |
References
- ↑ He, Ben-Jin; Liao, Lin; Deng, Zeng-Fu; Tao, Yi-Feng; Xu, Yu-Chan; Lin, Fa-Quan (2018). "Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives". Acta Haematologica. 139 (1): 60–66. doi:10.1159/000486229. ISSN 0001-5792.
- ↑ Perrotta, Silverio; Gallagher, Patrick G; Mohandas, Narla (2008). "Hereditary spherocytosis". The Lancet. 372 (9647): 1411–1426. doi:10.1016/S0140-6736(08)61588-3. ISSN 0140-6736.