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 where an individual with this condition may have a 50% chance of passing it on to the family. “It is a congenital haemolytic anaemia that is dominantly inherited in 75% of cases; the remaining cases show a recessive or non-dominant pattern of inheritance, such as spontaneous de novo mutations, which are often caused by family-specific private mutations” (Agre et al, 1986; Eber et al, 1990; Miraglia del Giudice et al, 1998).
Haemolysis is primarily confined to spleen and is extra-vascular which is caused by the alterations in the red cell membrane due to defects in at least five genes:
ANK1 (ankyrin), EPB3 (band -3), ELB42 (protein 4.2), SPTA1 (spectrin ) and SPTB (spectrin )
Four abnormalities in the HS erythrocytes have been distinguished which include: Spectrin deficiency, combined spectrin and ankyrin deficiency, Band 3- deficiency and Protein 4.2 defects. According to Ankyrin-1 is the predominant linker molecule which connects spectrin to CDB3 (cytoplasmic domain of band -3), the erythrocyte anion exchanger. The major cause of approximately half of all cases, dominant and recessive mutation is due to Ankyrin-1 protein, whereas some less common mutations are caused by band-3 protein.This may produce the following...