Hereditary spherocytosis causes

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Overview

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 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

References

  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.
  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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