Thrombocytopenia and Hyperhaemolysis in a Patient with Non Sickle Cell Familial Anaemia: A Case Report

Abstract

Hyperhaemolysis syndrome, often associated with sickle cell disease, can also occur in non sickle cell conditions following viral infections and autoimmune disorders. This case report presents a rare instance of hyperhaemolysis in the context of familial anaemia. A 41-year-old female with a history of unexplained anaemia presented with four episodes of haematemesis, abdominal pain, and headache. She had received a blood transfusion a month prior. Upon admission, she was diagnosed with pancytopenia and hypovolemic shock and was treated with packed cell volume transfusions. The patient had a significant family history of anaemia in her sisters, who also required intermittent blood transfusions. Following admission, she developed thrombocytopenia, a drop in Haemoglobin (Hb), petechiae, and subdural haemorrhage. Further investigations confirmed hyperhaemolysis syndrome. Treatment included blood transfusions, random donor platelet transfusions, and corticosteroids. The patient was discharged on prednisolone and cyclosporine. Over six months, her condition improved significantly, with no further bleeding episodes and stable Hb levels. Diagnosing hyperhaemolysis syndrome is challenging and requires a high index of suspicion. This case underscores the importance of considering hyperhaemolysis in patients with familial anaemia and unexplained haemolytic episodes. Early recognition and appropriate management are crucial for favourable outcomes.

Keywords

• cytoplasmic inclusions
• immune mediated
• pancytopenia