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Hereditary spherocytosis causes
Introduction
- Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
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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.
Causes
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
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.