Arsala Jameel Farooqui 

Senior Research Assistant, Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan 

​​As part of a current research project headed by Dr. Lena Jafri, titled “Alterations in phosphate homeostasis in transfusion dependent children with Beta-thalassemia”, the investigating team from the Section of Chemical Pathology, Aga Khan University recruits patients from the thalassemia OPD of a non-profit organization called Fatimid Foundation that provides blood transfusions to the affected beta-thalassemia (β-TM) patients. Regular blood transfusion is inevitable in patients with moderate to severe thalassemia and growth retardation, bone pains and fragility fractures are common in them. For our research objective, the study participants are tested for biochemical parameters that serve to explore the relation of FGF-23 to iron overload and phosphate homeostasis. Iron overload due to chronic blood transfusions disturbs the osteoblasts and osteocytes by iron accumulation in bones, resulting in impaired FGF-23 production. Our study hypothesis claims that those derangements initiate a cycle of destructive bone disease, detectable by raised serum phosphate, and altered serum vitamin D and calcium levels. Of the initial cohort of patients tested, majority were Vitamin D deficient with extremely high ferritin levels (mean= 3424.12 ng/mL) and variable response of parathyroid gland to hypocalcemia and vitamin D deficiency including secondary hyperparathyroidism and hypoparathyroidism and altered calcium phosphate product. Our team of investigators recognized the need to raise the awareness on recognition of metabolic bone disease and understanding of the interplay of biomarkers, and guide the healthcare providers at Fatimid about appropriate intervention for the correction of vitamin D deficiency. For this purpose, Professor Aysha Habib Khan along with senior research assistant Dr. Arsala Jameel Farooqui visited Fatimid Foundation in April 2022 and held a Continuing Professional Development Education (CPDE) activity with the medical officers on Metabolic Bone Disease in Thalassemia. The learning objectives of the interactive session were to understand the pathophysiology of metabolic bone diseases in β-TM and apply this knowledge on interpretation of biochemical investigations. Professor Khan also discussed the consequences of impaired calcium and phosphate metabolism and vitamin D deficiency and altered parathyroid gland functioning on the bone health of these children. Active discussion of vitamin D toxicity also took place. Participants discussed the various types of available vitamin D formulations, need of re-examination of optimal vitamin D levels, and use of higher doses lending potential for an increased incidence of vitamin D toxicity. The session was successful in elaborating the participants’ concepts regarding metabolic bone disease in β-TM and highlighted the critical importance of delivering collaborative evidence-based care to the patients in real time. A proposal for case-based discussion using tele-health was also discussed.