ABSTRACT
A 5-year-old female has been diagnosed with Hb Hammersmith (HBB: c.128T>C) and has required three blood transfusions thus far, with hemoglobin (Hb) levels dropping as low as 5.4 g/dL. An elective splenectomy is now being considered in order to reduce hemolysis and the need for transfusions. Of 18 previously reported cases of Hb Hammersmith, eight patients have reportedly undergone splenectomy, with only four of those studies reporting clinical improvement. Therefore, the role of splenectomy in unstable hemoglobinopathies remains unclear, but seems to be a promising option in Hb Hammersmith.
Subject(s)
Hemoglobinopathies , Hemoglobins, Abnormal , Female , Humans , Child, Preschool , Splenectomy , beta-Globins , Hemoglobins, Abnormal/genetics , Hemoglobinopathies/diagnosis , Hemoglobinopathies/geneticsABSTRACT
We describe the case of a 4-year-old female who presented with sepsis and disseminated intravascular coagulation (DIC), developed ongoing intravascular hemolysis with acute renal failure from suspected pigment-induced acute tubular necrosis necessitating continuous renal replacement therapy (CRRT) for five days followed by four episodes of intermittent hemodialysis (iHD), and was subsequently diagnosed with paroxysmal cold hemoglobinuria (PCH). She was successfully treated with plasma exchange and eculizumab, a humanized monoclonal antibody targeting complement protein C5, and demonstrated significant improvement of hemolysis and recovery of renal function.
