title: Haemoglobin sickle d punjab: - a case report.
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.
authors.affiliation: Institute for Medical Research (IMR), Haematology Unit, Jalan Pahang, 50588 Kuala Lumpur, Malaysia. ahmadrahimah@hotmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Rahimah
authors.affiliation: Institute for Medical Research (IMR), Haematology Unit, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.
authors.forename: O
authors.initials: O
authors.lastname: Syahira Lazira
authors.affiliation: Institute for Medical Research (IMR), Haematology Unit, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.
authors.forename: H M A
authors.initials: HM
authors.lastname: Siti Hida
authors.affiliation: Institute for Medical Research (IMR), Haematology Unit, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.
authors.forename: A H
authors.initials: AH
authors.lastname: Faidatul Syazlin
authors.affiliation: Institute for Medical Research (IMR), Haematology Unit, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.
authors.forename: A
authors.initials: A
authors.lastname: Nur Aisyah
authors.affiliation: Hospital Tuanku Jaafar, Pathology Unit, Negeri Sembilan, Malaysia.
authors.forename: N M
authors.initials: NM
authors.lastname: Nik Hafidzah
authors.affiliation: Institute for Medical Research (IMR), Haematology Unit, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.
authors.forename: Z
authors.initials: Z
authors.lastname: Zubaidah