Clinical and imaging findings in thalassemia patients with extramedullary hematopoiesis

Skeletal facial deformity in patients with β thalassemia major: Report of one Tunisian case and a review of the literature

“…Cooley and Lee' described patients with severe anemia occurring early in life associated with bone changes and splenomegaly [3,4]. The genetic causes of this disease were not recognized until 30 years later.…”

“…It mainly involves the liver, spleen, paravertebral and presacral spaces, kidneys, adrenals, lung, breast, thyroid, maxillary antra, and the falx cerebri [3,12].…”

“…Nonskeletal manifestations. These include extramedullary hematopoiesis, hemosiderosis, and accumulation of hemolysis products in thalassemia patients [3].…”

“…Gallbladder and bile duct diseases, especially bilirubin gallstones, are frequently seen in thalassemia cases [3,14].…”

“…Bone marrow expansion begins in response to the erythropoietin. The ineffective erythropoiesis leads to extramedullary hematopoiesis, osteoporosis; extreme expansion of marrow space in the long bones, spine, skull, ribs and facial bones [3].…”