Patient of turkish origin referred because of severe anemia and malaise.
The patient with turkish origin had a known beta-thalassemia major syndrome and was referred to the department of radiology for abdominal ultrasonography (US) and chest radiography, because of severe anemia and malaise. US of the abdomen (not shown) revealed hepatosplenomegaly. Chest radiographs demonstrated paravertebral abnormalities, which were further evaluated by CT scan.
Beta-thalassemia major is a severe anemia in infants and children leading to marrow hypertrophy and extramedullary hematopoiesis with consequent changes in the skeletal system and splenomegaly. The disease has a high mortality. People of Mediterranean, Asian and African ancestry are primarily affected, but sporadic cases have been reported in many other countries. The peculiar changes of the bones are usually seen in the ribs and the skull. The ribs may show a spectrum of radiographic findings. A highly characteristic appearance consists of marked expansion of the vertebral ends of the ribs with thin-irregular cortex and multiple fine erosions at the inner cortex of the ribs, frequently associated with paravertebral soft tissue densities contiguous with the anterior surface of the ribs. Radiographic changes in the skull include thinned or destroyed outer table of the skull and massive proliferation of trabeculae in the diploë at right angles to the inner table. This new bone, although extending outside the original outer cortex, still remains subperiosteal. Extramedullary hematopoietic masses occur not exclusively in thalassemia. They can also be found in severe anemias, associated with myeloid metaplasia, myelofibrosis, massive hemolysis, and Gaucher's disease.
Thalassemia
This patient is a 20-year-old male presenting with severe anemia and fatigue. Based on the medical history and the provided images, the following radiological characteristics can be observed:
Based on the radiological findings and the patient’s clinical history, the following differential diagnoses are considered:
Considering the patient’s severe anemia, overall fatigue, ethnic background, and characteristic rib/skull proliferative changes accompanied by evidence of extramedullary hematopoiesis, the most likely diagnosis is β-Thalassemia (β-thal). Further confirmation may include genetic testing, hemoglobin electrophoresis, complete blood count, ferritin levels, and other relevant laboratory evaluations.
Disclaimer: The above report is based on the provided medical history and imaging materials for analysis and is intended for clinical reference only. It does not substitute for an in-person consultation or the final judgment of a professional physician. If you have any questions or experience changes in your condition, please seek medical attention or consult a specialist promptly.
Thalassemia
