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Updated: Apr 30, 2026
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Haemoglobin sickle d punjab: - a case report
A Rahimah1, O Syahira Lazira2, H M A Siti Hida2
1Institute for Medical Research (IMR), Haematology Unit, Jalan Pahang, 50588 Kuala Lumpur, Malaysia. ahmadrahimah@hotmail.com.
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.
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