CASE 108
By: Dr. Nizar Al-Nakshabandi MD, FRCPC
HISTORY: 25 -year-old male with repeated blood transfusions.
What are your findings?
What is the differential diagnosis?
What are the causes?
FINDINGS:
Lateral radiographs of skull demonstrate hair on end appearance posterior skull from periosteal reaction in the skull cortex manifested by trabeculation interspersed with radiolucent marrow hyperplasia along the skull vault.
DIFFERENTIAL DIAGNOSIS:
HI NEST
· Hereditary spherocytosis
· Iron deficiency anaemia
· Neuroblastoma
· Enzyme deficiency, e.g. G-6-P deficiency causing haemolytic anaemia
· Sickle cell disease
· Thalassemia major
DIAGNOSIS:
Thalassemia major.
PEARLS AND DISCUSSION:
Thalassemia is an autosomal recessive hemoglobinopathy. Thalassemia is a quantitative problem of globin and synthesis, whereas sickle cell anemia is a qualitative problem of globin synthesis.
It is found most commonly in the Mediterranean region and Africa and the Middle East.
It usually manifests itself after 6 months of age when there is complete switch from fetal to adult A hemoglobin synthesis.
In the musculoskeletal system, thalassemia manifests itself in the skull as hair on end appearance as in our case. In the ribs, it gives rib within a rib appearance. It can lead to osteoporosis and premature fusion of the epiphysis. In the face, it gives a rat face appearance. Furthermore, extramedullary hematopoiesis can be seen which can also be caused by other myeloproliferative disorders such as leukemia, thrombocytosis and myelofibrosis. Gastrointestinal manifestation of thalassemia appears as gallbladder stones and hemosiderosis.
Treatment is by hypertransfusion and lifelong chelation. Bone marrow transplant may be curative.
FURTHER READING:
1. Aster JC. Robbins Basic Pathology. Saunders. (2012) ISBN:1437717810.
2. Toumba M, Skordis N. Osteoporosis syndrome in thalassaemia major: an overview. Journal of osteoporosis. 2010: 537673.
3. Donald L. Resnick, Mark J. Kransdorf. Bone and Joint Imaging. ISBN: 1437720927
