Time to think beyond sickle cell screening and haemoglobin electrophoresis: a case report and review of literature of sickle cell D-Punjab falsely labelled as sickle cell SS from central India
DOI:
https://doi.org/10.18203/2320-6012.ijrms20223104Keywords:
Sickle cell disease, Pulmonary thrombosis, Acute chest syndrome, D-Punjab, CT pulmonary angiogram, High performance liquid chromatographyAbstract
Sickle cell haemoglobin D disease (D-Punjab) is a rare variant of sickle cell disease (SCD) reported from central India. Exact incidence of pulmonary thrombosis in patients with HbSD is unknown. Pulmonary thrombosis is known complication of SCD but rare in case of HbSD pattern. We reported a case of 34-year-old male patient with HbSD (D-Punjab) with acute chest syndrome (ACS). CT pulmonary angiogram revealed near complete thrombosis of right middle lobe segmental and subsegmental branches with pulmonary infarct. Our patient responded to anticoagulant therapy. This case report is a reminder that HPLC should be done in all patients with sickle cell disease along with solubility test and hemoglobin electrophoresis to detect exact incidence of hemoglobin D disease in central India.
References
Lde TS, Okumura JV, Silva DG, Bonini-Domingos CR. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015;37(2):120-6.
Biswas TK, Pillai A. Hemoglobin-D Punjab-rare hemolytic anemia in the elderly: a case report. MGM J Med Sci. 2019;2020-3.
Mukherjee MB, Surve RR, Gangakhedkar RR, Mohanty RBC. Haemoglobin sickle D punjab: - A case report. Indian J Hum Genet. 2005;11(3):154-5.
Spandana R, Panneerselvam K, Mani S, Krishnamoorthy N. An Interesting and Rare Case of Hemoglobin D-Punjab Variant in Tamil Nadu. Cureus. 2022;14(2):e22668.
Shekhda KM, Leuva AC, Mannari JG, Ponda AV, Amin A. Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant. J Clin Diagn Res. 2017;11(6):21-2.
Denic S, Souid AK. Hemoglobin D-Punjab Homozygotes and Double Heterozygotes in Premarital Screening: Case Presentations and Minireview. Eur J Med Heal Sci. 2021;3(1):90-4.
Rahimah A, Lazira O, Hida HM, Syazlin AH, Aisyah A, Hafidzah NM, et al. Haemoglobin sickle D-Punjab- a case report. Med J Malaysia. 2014;69(1):42-3.
Srinivas U, Pati HP, Saxena R. Hemoglobin D-Punjab syndromes in India: a single center experience on cation-exchange high performance liquid chromatography. Hematology. 2010;15(3):178-81.
Sachdev R, Dam AR, Tyagi G. Detection of Hb variants and hemoglobinopathies in Indian population using HPLC: report of 2600 cases. Indian J Pathol Microbiol. 2010;53(1):57-62.
