1.
Med J Malaysia
; 69(1): 42-3, 2014 Feb.
Artículo
en Inglés
| MEDLINE
| ID: mdl-24814631
RESUMEN
Haemoglobin S D-Punjab is a rare compound heterozygous haemoglobinopathy characterised by the presence of two ß globin gene variants: Β6(GAGâGTG) and Β121(GAAâCAA). 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.