HbS/D-Punjab Disease: Report of 3 Cases from Sri Lanka
- 36 Downloads
Double heterozygosity for sickle cell + Hb D-Pubjab is a rare symptomatic hemoglobinopathy arising from biallelic mutations of the HBB gene. One allele produces HbS while other allele is producing HbD-Punjab. p.Glu6Val mutation in HBB codes for HbS and p.Glu121Gln mutation codes for HbD-Punjab. .
Clinical manifestations of sickle cell HbSD-Pubjab exhibit slightly milder outcome compared to common sickle cell anemia (HbSS). However, Splenomegaly is more common in HbSD-Punjab than in HbSS disease . Elevated blood HbF level is known to be protective against HbSS disease which minimizes the severity and the complications. Hydroxyurea is an inducer of HbF. For sickle cell HbSD-Pubjab disease, the results of hydroxyurea treatment are yet to be established. A single centre study found elevated HbF level related to a protective effect following hydroxyurea treatment for sickle cell HbSD-Pubjab disease . We describe here, our experiences with 3 HbSD-Punjab patients, 2 of whom/all 3...
KeywordsHbS/D- Punjab disease Hydroxyurea Clinical spectrum
Compliance with Ethical Standards
Conflict of interest
The authors declare that there is no conflict of interest regarding the publication of this paper.
Was obtained from Ethics Review Committee, Faculty of Medicine and Allied Sciences, Rajarata University Saliyapura, Sri Lanka.
Informed consent was obtained from guardians of all individual participants included in the study.
- 2.Barbara JB (2001) Sickle SS disease, haemoglobinopathy diagnosis, 2nd edn. Wiley-Blackwell Science, Oxford, pp 275–296Google Scholar