hereditary spherocytosis

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RBC membrane disorders consist of HS where it is identified by the diversity in clinic and laboratory which is also revealed by recent molecular studies. A mutation is found in one of the spherocytosis genes causing erythrocyte membrane defects. The Laparoscopic approach has been one of the new surgical procedures for splenectomy for the treatment of HS. Partial splenectomy is done in children to avoid post-splenectomy sepsis. The latest management helps in understanding the protocol of splenectomy and suggest a meticulous discussion between the patient, the family and the healthcare provider. Hereditary Spherocytosis (HS) or Minkowski–Chauffard syndrome is a genetic familial haemolytic condition which causes defects in the internal cytoskeleton of erythrocytes membrane leading to anaemia. The cells have sphere-like shape instead of bi-concave lacking flexibility; hence it becomes more susceptible to haemolysis as they cannot pass through the vessels without changing their shapes. According tothe genetic defect is caused by the heterogeneous modification in one of the six genes, which encodes for the protein involved in vertical associations that tie the cell membrane skeleton to the lipid-bilayer. The erythrocyte membrane skeleton defects are responsible for different hereditary haemolytic anaemia’s associated with the abnormal shape of the erythrocytes. Haemoglobin is released due to haemolysis. There are more reticulocytes present in the circulation and bone marrow tries to produce more RBC than usual in order to prevent anaemia Hereditary Spherocytosis (HS) is found worldwide, but most commonly found in Northern European descends. It affects approximately 1 in 1000-2500 individuals depending on the diagnostic principle wher... ... middle of paper ... ...pleen and preserving enough tissue for it would help it to carry out the desired haematological and immune functions. Partial splenectomy decreases the symptoms of hyper-splenism and splenic sequestration in children with haemoglobinopathies, whereas the splenic function is less well reserved as compared to children with spherocytosis This can be supported by the early studies where surgical procedure done by in 11 patients showed that haemoglobin values increased whereas the reticulocytes values decreased. This results in the direct increase in the number of erythrocytes life span after the partial splenectomy. ] summarised their experience in Europe explaining that the irregular rates of splenic re-growth does not associate with the recurrent haemolysis and the reasons behind this are unclear which could be due to parenchymal remodelling after partial resection.

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