Thalasaaemia and extramedullary haematopoiesis

A 22-year-old male presented to our hospital with chest pain for 6 months. The pain was generalized, non-exertional and had no diurnal variation. He gave history of easy fatiguability. On examination, he had pallor and tachycardia. His liver and spleen were palpable 4 cm below right costal margin and 13 cm below left costal margin, respectively. On investigation, his haemoglobin was 3.7 g/dl. X-ray chest revealed expansion of ribs more at the costochondral junction (Figure 1A) and X-ray skull revealed characteristic hair on end appearance (Figure 1B). Ultrasonography showed hepatomegaly (16 cm) and splenomegaly (21 cm). High performance liquid chromotography showed absent HbA with HbA2 of 3.9% and HbF of 95% consistent with non-transfusion dependent beta thalassemia. He had low serum folic acid (2.3 ng/ml) and vitamin B12 (135 pg/ml) level. He was transfused two units of PRBC’s and was given folic acid and vitamin B12 supplements. Six-months later on follow up, he had haemoglobin of 9.7 g/dl with no chest pain. Chest X-ray postero-anterior view shows expansion of ribs at the costchondral junction bilaterally (A), X-ray lateral view of skull shows Hair-on-end appearance (B). Formation of blood cells outside the marrow is called as extra-medullary haematopoiesis (EMH). Extra-medullary haematopoiesis can be seen in thalassemia, chronic haemolysis, myelofibrosis and bone marrow irradiation.1 EMH is common in poorly managed thalassemia patients in developing world. EMH is akin to a double-edged sword as sites help in synthesis of hematopoietic cells concurrently causing compression of adjacent structures resulting in complications. It may present with bone pain, abdominal discomfort and compression of vital organs.2,3 However, chest pain as presentation of EMH is very rare. Management includes blood transfusion and nutritional support to maintian haemoglobin >9 g/dl.4 In case of emergency like spinal cord compression, irradiation or decompression by partial/complete removal of structures causing compression in the recommended therapy.4,5 Conflict of interest: None declared.