Beta-thalassemia major is a genetic disorder disrupting both beta globin proteins, resulting in ineffective hemoglobin, deformed RBCs, and severe chronic anemia necessitating transfusion-dependence. The spleen’s role as a site of secondary hematopoiesis, along with its role of filtering deformed and nonfunctional RBCs, contributes to worsening splenomegaly. Massive splenomegaly is defined as a splenic length greater than 17 cm, compared to the normal length of approximately 12 cm, or a splenic weight greater than 600 g (1.3 lbs). Splenomegaly often presents at an early age and worsens without treatment.

A 33-year-old male immigrant from Cote-d’Ivoire with a history of transfusion-dependent beta-thalassemia presented with intractable left upper quadrant and back pain. The patient reported transfusions every three years while living in Africa but began transfusions every two months in the US over the past two years. On exam, he had a protuberant abdomen that sharply contrasted his extremities and chest. Imaging confirmed massive splenomegaly consuming majority of the abdomen. An elevated left hemidiaphragm from paralysis secondary to upward pressure from the spleen was noted. Further workup yielded a hemoglobin of 3.4 and platelet count of 21. On history review, he had dilated cardiomyopathy, pulmonary hypertension, and a ferritin level of over 1000, supporting the diagnosis of secondary hemochromatosis. After hematological resuscitation and prophylactic vaccine administration, the patient underwent splenic artery embolization followed by an open splenectomy. Intraoperatively, he required transfusions of blood and platelets, but the procedure was ultimately successful, excising a ten-pound spleen. Post-operatively, he showed remarkable improvement in his hemoglobin, platelet counts, and post-discharge clinical status.

Splenectomy is the definitive treatment for mass effect caused by massive splenomegaly and reduces the need for transfusions in the setting of hemoglobinopathy. Splenectomy improved our patient’s quality of life by relieving his pain and reducing his need for transfusions. Splenectomy in the setting of an advanced disease process warrants extreme precautions and a multidisciplinary approach with Surgical, Internal Medicine, and Hematological teams. Massive splenomegaly secondary to beta thalassemia is a rare presentation in adults as most patients necessitate treatment during childhood, further highlighting the uniqueness of this case.

References and Resources

1. Johnson, H. A., and R. A. Deterling. “Massive splenomegaly.” Surgery, gynecology & obstetrics 168.2 (1989): 131-137.
2. Owera, Anas, et al. “Laparoscopic versus open splenectomy for massive splenomegaly: a comparative study.” Journal of laparoendoscopic & advanced surgical techniques 16.3 (2006): 241-246.
3. Galanello, Renzo, and Raffaella Origa. “Beta-thalassemia.” Orphanet journal of rare diseases 5 (2010): 1-15.
4. Papakonstantinou, Olympia, et al. “MR imaging of spleen in beta-thalassemia major.” Abdominal imaging 40 (2015): 2777-2782.