Hereditary spherocytosis causes: Difference between revisions
Jump to navigation
Jump to search
Amar Morani (talk | contribs) No edit summary |
(→Causes) |
||
| Line 8: | Line 8: | ||
==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> | |||
* 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. | |||
{| class="wikitable" | |||
|+Molecular and Genetic Characteristics of 5 Erythrocyte Membrane Protein 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 | |||
|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 acisosis | |||
|- | |||
| SPTA1 | |||
| 1q22-q23 | |||
| alpha spectrin | |||
| SpaLEPRA allele, splicing, frameshift | |||
| autosomal recessive | |||
| hereditary spherocytosis, hereditary eliptocytosis, hereditary pyropoikilocytosis | |||
|- | |||
| SPTB | |||
| 14q23-q24.1 | |||
| beta spectrin | |||
| splicing, frameshift, nonsense, novel mutations | |||
| autosomal dominant | |||
| hereditary spherocytosis, hereditary eliptocytosis, hereditary pyropoikilocytosis | |||
|- | |||
| EBP42 | |||
| 15q15-q21 | |||
| protein 4.2 | |||
| missense, nonsense | |||
| autosomal recessive | |||
| hereditary spherocytosis | |||
|} | |||
* [[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|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. | ||
Revision as of 15:01, 28 November 2018
|
Hereditary spherocytosis Microchapters |
|
Differentiating Hereditary spherocytosis from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Hereditary spherocytosis causes On the Web |
|
American Roentgen Ray Society Images of Hereditary spherocytosis causes |
|
Risk calculators and risk factors for Hereditary spherocytosis causes |
- Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
Overview
- HS is caused by a variety of mutations that cause defects in red blood cell (RBC) membrane proteins. HS usually is transmitted as an autosomal dominant trait, and the identification of the disorder in multiple generations of affected families is the rule.
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 acisosis |
| SPTA1 | 1q22-q23 | alpha spectrin | SpaLEPRA allele, splicing, frameshift | autosomal recessive | hereditary spherocytosis, hereditary eliptocytosis, hereditary pyropoikilocytosis |
| SPTB | 14q23-q24.1 | beta spectrin | splicing, frameshift, nonsense, novel mutations | autosomal dominant | hereditary spherocytosis, hereditary eliptocytosis, hereditary pyropoikilocytosis |
| EBP42 | 15q15-q21 | protein 4.2 | missense, nonsense | autosomal recessive | hereditary spherocytosis |
- HS is caused by a variety of mutations that lead to defects in red blood cell (RBC) membrane proteins. HS usually is transmitted as an autosomal dominant trait, and the identification of the disorder in multiple generations of affected families is the rule. Homozygosity for this dominantly transmitted HS gene has not been identified, which suggests that the homozygous state is incompatible with life.
- 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.
- 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 HS cases. It manifests only in individuals who are homozygous or compound heterozygous and often is associated with severe hemolytic anemia.
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.