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Indian Journal of Hematology and Blood Transfusion

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01-04-2018 | Correspondence

HbS/D-Punjab Disease: Report of 3 Cases from Sri Lanka

Authors: Krishan Hewa Thalagahage, Jayaweera Arachchige Asela Sampath Jayaweera, Widuranga Kumbukgolla, Nilukshi Perera, Ela Thalagahage, Jayani Kariyawasam, Vajira Dissanayake

Published in: Indian Journal of Hematology and Blood Transfusion | Issue 2/2018

Excerpt

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. [1]. …

Vella F, Lehmann H (1974) Haemoglobin D Punjab (D Los Angeles). J Med Genet 11:341–342CrossRefPubMedPubMedCentral

Barbara JB (2001) Sickle SS disease, haemoglobinopathy diagnosis, 2nd edn. Wiley-Blackwell Science, Oxford, pp 275–296

Patel S, Purohit P, Mashon RS, Dehury S, Meher S, Sahoo S et al (2014) The effect of hydroxyurea on compound heterozygotes for sickle cell-hemoglobin D-Punjab–a single centre experience in eastern India. Pediatr Blood Cancer 61(8):1341–1346. doi:10.1002/pbc.25004 CrossRefPubMed

Steinberg MH (2009) Sickle cell SS. In: Steinberg MH, Forget BG, Higgset DR (eds) Disorders of hemoglobin: genetics, pathophysiology, clinical management, 2nd edn. Cambridge University Press, CambridgeCrossRef

Alsultan A, Alabdulaali MK, Griffin PJ, AlSuliman AM, Ghabbour HA, Sebastiani P et al (2014) Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab–Indian haplotype is not benign. Br J Haematol 64(4):597–604. doi:10.1111/bjh.12650 CrossRef

Title: HbS/D-Punjab Disease: Report of 3 Cases from Sri Lanka
Authors: Krishan Hewa Thalagahage
Jayaweera Arachchige Asela Sampath Jayaweera
Widuranga Kumbukgolla
Nilukshi Perera
Ela Thalagahage
Jayani Kariyawasam
Vajira Dissanayake
Publication date: 01-04-2018
Publisher: Springer India
Published in: Indian Journal of Hematology and Blood Transfusion / Issue 2/2018
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI: https://doi.org/10.1007/s12288-017-0851-7

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