Hereditary spherocytosis causes: Difference between revisions

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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.

Molecular and Genetic Characteristics of 5 Erythrocyte Membrane Protein Genes
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.

Template:WS Template:WH

[HeLiao2018-1] 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.

[PerrottaGallagher2008-2] 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.

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@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Hereditary spherocytosis}}
-{{CMG}} {{AE}}
+* {{CMG}} {{AE}}
 {{PleaseHelp}}
 ==Overview==
+[[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==
-[[Hereditary spherocytosis|HS]] is caused by a variety of [[mutations]] that lead to defects in [[Red blood cells|red blood cell (RBC)]] membrane proteins. HS usually is transmitted as an [[autosomal dominant]] trait, and the identification of the disorder in multiple [[Generation|generations]] of affected families is the rule. [[Homozygosity]] for this dominantly transmitted [[Hereditary spherocytosis|HS]] [[gene]] has not been identified, which suggests that the [[homozygous]] state is incompatible with life.
+* [[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 [[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).
-Twenty-five percent of all newly diagnosed patients do not demonstrate a [[dominant]] inheritance pattern. Parents of these patients do not have clinical or hematologic abnormalities. Some of these sporadic cases may result from new [[mutations]].
+* [[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"
-An [[autosomal recessive]] mode of inheritance also occurs, as indicated by descriptions of families in which apparently healthy parents have had more than one affected child. [[Recessive]] inheritance may account for 20-25% of all [[Hereditary spherocytosis|HS]] cases. It manifests only in individuals who are [[homozygous]] or compound [[heterozygous]] and often is associated with severe [[hemolytic anemia]].
+|+[[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|Chromosome Location}}
+! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Membrane Protein}}
+! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Prevalent Mutations}}
+! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Heredity}}
+! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Associated Disease}}
+|-
+| [[ANK1]]
+|[[Chromosome 8 (human)|8p11.2]]
+| [[Ankyrin|Ankyrin-1]]
+| [[Frameshift mutation|frameshift]], [[Nonsense mutation|nonsense]], [[Splicing (genetics)|splicing]], novel [[Mutation|mutations]]
+| [[Dominance relationship|autosomal dominant]], [[autosomal recessive]]
+| [[hereditary spherocytosis]]
+|-
+| [[SLC4A11|SLC4A1]]
+| [[Chromosome 17 (human)|17q21]]
+| [[Band 3|Band3]]
+| [[Missense mutation|missense]],[[Frameshift mutation|frameshift]],[[polymorphism]]
+| [[Dominance relationship|autosomal dominant]]
+| [[hereditary spherocytosis]],[[Renal tubular acidosis|distal renal tubular acidosis]]
+|-
+| [[SPTA1]]
+| [[Chromosome 1 (human)|1q22-q23]]
+| [[Spectrin, alpha 1|alpha spectrin]]
+| SpaLEPRA [[allele]], [[Splicing (genetics)|splicing]], [[Frameshift mutation|frameshift]]
+| [[autosomal recessive]]
+| [[hereditary spherocytosis]], [[hereditary elliptocytosis]], [[hereditary pyropoikilocytosis]]
+|-
+| [[SPTB]]
+| [[Chromosome 14 (human)|14q23-q24.1]]
+| [[Spectrin|beta spectrin]]
+| [[Splicing (genetics)|splicing]], [[Frameshift mutation|frameshift]], [[Nonsense mutation|nonsense]], novel [[Mutation|mutations]]
+| [[Dominance relationship|autosomal dominant]]
+| [[hereditary spherocytosis]], [[hereditary elliptocytosis]], [[hereditary pyropoikilocytosis]]
+|-
+| EBP42
+| [[Chromosome 15 (human)|15q15-q21]]
+| [[protein 4.2]]
+| [[Missense mutation|missense]], [[Nonsense mutation|nonsense]]
+| [[autosomal recessive]]
+| [[hereditary spherocytosis]]
+|}
 ==References==

Hereditary spherocytosis causes: Difference between revisions

Latest revision as of 15:03, 5 December 2018

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