Rahimah Ahmad, Syahira Lazira Omar, Siti Hida H M Arif, Faidatul Syazlin A Hamid, Nur Aisyah Aziz, Nik Hafidzah N Mustapha and Zubaidah Zakaria (2014). Haemoglobin Sickle D Punjab: - A Case Report. Medical Journal of Malaysia 69(1): 42-43
Haemoglobin S D-Punjab is a rare compound heterozygous haemoglobinopathy characterised by the presence of two β globin gene variants: β6(GAG→GTG) and β121(GAA→CAA). These patients' clinical and haematological features mimic haemoglobin S disease. We describe the first case of doubly heterozygous HbSD-Punjab from Malaysia managed with regular blood transfusion at the age of one. This case highlights the propensity for occurrence of rare phenotypes within our multi-ethnic population and emphasises the importance of accurate genotyping to avoid erroneous counselling, and to plan an effective patient management strategy before complication evolves.