Homozygous HbS in A Malay Patient: A Rare Variant of Sickle Cell Disease in Malaysia

Abstract

Sickle cell disease in Malay ethnicity is uncommon, with few cases been reported only in Malaysian Indians. Detecting sickle haemoglobin in patients with osteoarticular manifestation is not as simple as those with haemolysis crisis, due to its extremely low incidence in this country. We hereby report a case of a 19-year-old Malay female who presented with a long-standing history of disabling movement of both hip joints, intermittent painful swollen right elbow, and chronic back pain. Imaging investigations revealed features of chronic osteomyelitis and avascular necrosis while blood investigations demonstrated features of mild normochromic normocytic anaemia and extravascular haemolysis. Further blood smear and haemoglobin analysis eventually confirmed the presence of homozygous sickle haemoglobin manifesting as sickle cell anaemia. Our case has highlighted the importance of prompt identification and thorough evaluation of the cause of anaemia in a patient with disabling chronic osteoarticular problem.