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Publication Details
Year :

2014

Journal :

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

Abstract :

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.

myGOV MAMPU JPA IKU MSC NMMR CRC MyHEALTH MOH Globinmed SPA krste.my

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