Intrathoracic extramedullary hematopoietic tumor in hemoglobin H disease

Abstract

We report a Chinese patient with hemoglobin H (Hb H) disease who developed intrathoracic extramedullary hematopoiesis (EMH) 17 years following splenectomy for a blunt abdominal injury. The patient initially presented with extreme hyperbilirubinemia and multiple intrathoracic tumors. Hb H disease was diagnosed after investigation, and the marked jaundice, which declined gradually after supportive treatment, was attributed to his chronic hemolysis superimposed on an acute hepatitis C virus infection. A biopsy of the intrathoracic tumors revealed an EMH. Intrathoracic EMH, which is usually encountered in patients with beta-thalassemia and hereditary spherocytosis, has never been reported in Hb H disease. In areas where thalassemia is prevalent, EMH should be considered in the differential diagnosis of patients who have chronic anemia with asymptomatic intrathoracic tumor to avoid unnecessary surgical interventions.

Hemoglobin H disease: not necessarily a benign disorder

“…3,[99][100][101][102] Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent in the same populations in whom thalassemias are prevalent. Therefore, coinheritance of both Hb H disease and G6PD deficiency is to be expected.…”

Extramedullary Hematopoietic Effusions

“…16 Some cases have been diagnosed by fine needle aspiration with or without radiologic guidance. 20,25,27,34,35 EMH can be diagnosed in effusions when the nodules of the serous cavities seed their lining cells, which are recovered by paracentesis; this finding is usually related also to myelofibrosis, 3,7,10,11,13,14,22,23,28,31,33,36 leukemia 6,12 and congenital heart disease. 18 EMH in effusions is diagnosed by the presence of immature red and white blood cells; less often, elements of the three types can be found.…”

Extramedullary haematopoiesis presented as intrathoracic tumour in a patient with alpha-thalassaemia

“…Wu et al described the case of intrathoracic EMH in a 34-year-old male who initially presented with nonspecific symptoms, extreme hyperbilirubinaemia and multiple intrathoracic bilateral paravertebral tumours [1]. In the report of Chu et al, a 44-year-old patient developed dyspnea and a massive left-side haemothorax.…”

“…betathalassaemia, sickle cell anaemia, and hereditary spherocytosis). Only a few patients with alpha-thalassaemia have been reported to present EMH [1,2]. …”