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


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


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


CONCLUSIONS
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/beta 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.
Srinivas
Upendra
U
Department of Hematology, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, Maharashtra, India. upendra_srinivas@yahoo.co.in
Pati
H P
HP
Saxena
Renu
R
D000293:Adolescent; D000328:Adult; D002648:Child; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D002852:Chromatography, Ion Exchange / Q000379:methods*; D005260:Female; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D055815:Young Adult
D006455:Hemoglobins, Abnormal; C026237:hemoglobin D Punjab