Hereditary Spherocytosis Masquerading under the Cloak of Recurrent Gallstones

Dr. Manjiri Naik, Dr. Umar Quadri, Dr. Siddhraj Vinod Paramshetti, Dr. Shubham Mahendrakumar Patel, Dr. Nilofer Patel, Dr. Parth Maindarkar, Dr. Henil Bhanushali

Abstract: Hereditary spherocytosis (HS) is a type of familial hemolytic anemia, in which heterogeneous alterations in one of the six genes that encode for proteins involved in vertical associations which tie the red blood cell (RBC) membrane skeleton to the lipid bilayer causes dysfunction or deficiency of cell membrane protein resulting in spherical - shaped, hyper - dense, and poorly deformable RBCs with a shortened life span. It has a wide spectrum of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. Although Familial history increases the risk of HS, it may be sporadic in some cases. We report a case of 26year old female, who presented with Abdominal pain, vomiting and yellowish discoloration of skin. Under laboratory evaluation she was found to have anaemia with reticulocytosis, jaundice. In peripheral blood smear, spherocytes were moderately distributed. Direct, Indirect coomb?s test was negative but osmotic fragility was high. Hence, she was confirmed as case of hereditary spherocytosis. She was vaccinated for Streptococcus Pneumonia and Neisseria meningitides, elective Laparoscopic splenectomy with cholecystectomy was done.

Keywords: Hereditary Spherocytosis, spherocytes, osmotic fragility test, indirect hyperbilirubinemia

How to Cite?: Dr. Manjiri Naik, Dr. Umar Quadri, Dr. Siddhraj Vinod Paramshetti, Dr. Shubham Mahendrakumar Patel, Dr. Nilofer Patel, Dr. Parth Maindarkar, Dr. Henil Bhanushali, "Hereditary Spherocytosis Masquerading under the Cloak of Recurrent Gallstones", Volume 13 Issue 6, June 2024, International Journal of Science and Research (IJSR), Pages: 802-805, https://www.ijsr.net/getabstract.php?paperid=SR24610140036, DOI: https://dx.doi.org/10.21275/SR24610140036