Haemoglobin Sickle D Punjab: - A Case Report
- Author:
Rahimah Ahmad
;
Syahira Lazira Omar
;
Siti Hida H M Arif
;
Faidatul Syazlin A Hamid
;
Nur Aisyah Aziz
;
Nik Hafidzah N Mustapha
;
Zubaidah Zakaria
- Publication Type:Case Reports
- Keywords:
Haemoglobinopathies;
Hb SD-Punjab;
Malaysia
- From:
The Medical Journal of Malaysia
2014;69(1):42-43
- CountryMalaysia
- Language:English
-
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.
- Full text:P020150724590245841993.pdf
