OCCURRENCE OF UNUSUAL HAEMOGLOBINOPATHIES IN BALOCHISTAN: HB SD AND HB SE - PRESENTATION WITH OSTEOMYELITIS

Abstract

Objective: To describe two cases of unusual variants of sickle cell disease.

Case description: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis.

Comments: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.

Figure 1. Radiological imaging depicting signs of osteomyelitis. (A) Plain radiograph of left leg indicates mild periosteal reaction and periosteal elevation with sub-periosteal collection and displacement and blurring of fat planes. (B) Magnetic resonance imaging with contrast showing marrow signal abnormality in the mid-shaft diaphysis of the left femur.

Figure 2. Magnetic resonance imaging showing signs of osteomyelitis. (A and B): MRI with contrast shows signal enhancement of the left femur with soft tissue signal abnormality, suggestive of osteomyelitis.