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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