A 42-year-old African-American male presented to the emergency room complaining of diffuse abdominal pain and distention of 2 days duration. Other symptoms included general malaise, nausea, and a few episodes of vomiting. Physical examination revealed a jaundiced male with moderate abdominal distention and tenderness upon palpation of the abdomen. Laboratory data included red blood cell count of 3.59 cells/mm3, hematocrit 23.5% with a MCV 65.3 µm3, white blood cell count of 3.7 cells/mm3, bilirubin 4.5 mg/dL, and elevated alkaline phosphates and hepatic enzymes. Radiographs of the chest (figure 1) and abdomen (figure 2), and CT scans of the chest (figure 3) and abdomen (figure 4) were obtained.
A 42-year-old African-American male presented to the emergency
room complaining of diffuse abdominal pain and distention of 2 days
duration. Other symptoms included general malaise, nausea, and a
few episodes of vomiting. Physical examination revealed a jaundiced
male with moderate abdominal distention and tenderness upon
palpation of the abdomen. Laboratory data included red blood cell
count of 3.59 cells/mm3, hematocrit 23.5% with a MCV 65.3 µm3,
white blood cell count of 3.7 cells/mm3, bilirubin 4.5 mg/dL, and
elevated alkaline phosphates and hepatic enzymes. Radiographs of
the chest (figure 1) and abdomen (figure 2), and CT scans of the
chest (figure 3) and abdomen (figure 4) were obtained.
The abdominal radiograph demonstrates hepatosplenomegaly and
diffuse osseous changes of widening of the medullary spaces,
coarsening of the bony trabeculae, and thickening of the cortices
(figure 1). The chest radiograph revealed similar osseous changes,
as well as multiple well-defined soft-tissue masses in the
posterior aspect of the lung bases (figure 2). Chest CT showed
soft-tissue masses in the posterior mediastinal para vertebral
region and adjacent to the ribs (figure 3). CT of the abdomen
showed similar masses which represent areas of extramedullary
hematopoiesis (figure 4). The liver also showed marked increased
attenuation compared to the spleen in the absence of IV contrast,
compatible with hemochromatosis (figure 4).
Beta thalassemia (Cooley's) anemia
The thalassemias are a diverse group of congenital disorders in
which there is a defect in the synthesis of one or more of the
subunits of the hemoglobin molecule. Cooley's anemia is the
homozygous form, thalassemia minor, and is inherited from one
parent. The heterozygous form usually involves only mild anemia and
no skeletal stigmata. The homozygous form is the most severe form
of the congenital hemolytic anemia and is usually present before 6
months of age with signs and symptoms of severe anemia. Patients
have a short life expectancy, the majority dying before reaching
adulthood, usually of cardiovascular complications.
Hemoglobin production is decreased with red blood cells that are
microcytic and hypochromic. The anemia is produced not only by the
patient's inability to synthesize hemoglobin but also by hemolysis,
which also leads to the characteristic clinical and radiologic
manifestations. The incidence of beta thalassemia is reportedly
approximately 7% for the Greek population and 10% in certain
Italian populations. However, beta thalassemia can occur in
patients of any ethnic background, including Asians and
On physical examination, patients with beta thalassemia are
usually pale and may be jaundiced (from hemolysis) or pigmented
(from iron overload). Splenomegaly due to extramedullary
hematopoiesis can also be seen. Exuberant marrow growth may produce
intrathoracic (paraspinal) masses of marrow that can be confused
with tumors. Transfusion requirements and con-sequences of iron
overload (hemochromatosis), produced in part by chronic transfusion
therapy dominate the clinical picture.
Hemochromatosis is identified radiographically as marked
increased hepatic attenuation compared to the spleen in the absence
of IV contrast. A characteristic appearance is also seen on MRI,
with diffuse marked absent signal on both T1- and T2-weighted
images. Increased bilirubin production can lead to gallstones and
cholecystitis. Cardiac abnormalities include congestive heart
failure and arrythmias, which may be an immediate cause of
Bone abnormalities include widening of the diploic spaces with
coarse trabeculations. In the skull, marked thinning and
displacement of the outer table give the skull a "hair on end"
appearance. In the peripheral skeleton, the earliest changes are
seen in the small bones of the hands and feet, consisting of
widened medullary spaces, osteoporosis, thinning of the cortices,
and coarsened trabecula. Premature closure of the epiphysis can be
seen in approximately 10% of pediatric patients, usually at the
proximal humerus and distal femur. Arthropathy is encountered
frequently due to hemochromatosis resulting in calcium
pyrophosphate deposition arthropathy. In patients in a high risk
population with the previously described clinical and radiographic
findings, the diagnosis of beta thalassemia is suggested.
The treatment of Cooley's anemia is primarily supportive. The
goal of therapy is to administer blood transfusions sufficient to
sustain life and prevent skeletal changes, but to avoid the risk of
hypertransfusion with serious iron overload. A Hb of 8 to 9 gm/dL
appears to be adequate and can be achieved with transfusion of one
unit of packed red blood cells every 2 to 3 weeks. Splenectomy is
beneficial since it removes the major site of hemolysis, however it
is not recommended in the first 4 to 5 years of life because of the
risk of overwhelming sepsis in asplenic children. In selected
cases, iron chelation therapy is indicated to reverse elevated iron
levels due to repeated transfusions.
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Miscellaneous conditions. In: Juhl JH, Crummy AB (eds): Essentials
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Radiology Review Manual, ed 2, pp 101-102. Baltimore, MD, Williams
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Anemia and transfusion therapy. In: Manual of Medical Therapeutics,
ed 22, pp 348-349. Boston, Little, Brown and Company, 1989.
Prepared by Roberto L. Maldonado, MD, Department of
Radiology, Jackson County Memorial Hospital, Altus, OK, and
Richard G. Barr, MD, PhD, Department of Radiology, St. Elizabeth
Health Center, Youngstown, OH.