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Hemoglobin D-Punjab syndromes in India: a single center experience on cation-exchange high performance liquid chromatography
Abstract:Abstract

Background: Hemoglobin–D-Punjab (HbDP) is an uncommon structural hemoglobin variant, which is reported to be prevalent in North Western India. There are only a few small series, family studies and anecdotal reports of this entity in the literature. We report the largest single center experience on this entity diagnosed by cation-exchange high performance liquid chromatography (CE-HPLC) from India.

Aim: To document and analyze the clinical, hematological and chromatographic parameters of patients with HbDP syndromes.

Patients and methods: A total of 6889 blood samples (both pediatric and adult) were screened for hemoglobinopathies and structural hemoglobin variants by CE-HPLC; β thal short program (BTS), Bio-Rad variant for evaluation of anemia and for family and antenatal screening studies.

Results and conclusion: A total of 484 cases of structural hemoglobin variants comprising of HbS, E, D-Punjab, D Iran, Lepore, and J-Meerut were detected. HbDP syndromes constituted 38 (7·8%) of all hemoglobin variants and 0·55% of all the samples screened for hemoglobinopathies. Heterozygous HbDP constituted 23 of 38 (61%) cases and homozygous HbD/D, HbS/D and HbD/β constituted 9/38 (24%), 2/38 (5%), and 4/38 (10%) respectively. HbDP syndromes are not uncommon and are relatively underdiagnosed. CE-HPLC has the advantage of rapid detection and accurate quantitation. Electrophoresis and CE-HPLC can be complementary in making accurate diagnosis of these entities.
Keywords:HEMOGLOBIN D-PUNJAB  HEMOGLOBINOPATHY  HIGH PERFORMANCE LIQUID CHROMATOGRAPHY
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