Srinivas Upendra, Pati H P, Saxena Renu
Department of Hematology, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, Maharashtra, India.
Hematology. 2010 Jun;15(3):178-81. doi: 10.1179/102453309X12583347113735.
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.
To document and analyze the clinical, hematological and chromatographic parameters of patients with HbDP syndromes.
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.
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.
血红蛋白-D-旁遮普（HbDP）是一种罕见的结构性血红蛋白变异体，据报道在印度西北部较为普遍。文献中关于该实体的仅有少数小样本系列研究、家族研究和个案报告。我们报告了印度一家单一中心通过阳离子交换高效液相色谱法（CE-HPLC）诊断该实体的最大规模经验。
记录和分析HbDP综合征患者的临床、血液学和色谱参数。
通过CE-HPLC的β地中海贫血短程序（BTS）、用于贫血评估以及家族和产前筛查研究的Bio-Rad变异体，对总共6889份血液样本（包括儿童和成人样本）进行血红蛋白病和结构性血红蛋白变异体筛查。
总共检测到484例结构性血红蛋白变异体，包括HbS、E、D-旁遮普、D-伊朗、Lepore和J-密拉特。HbDP综合征占所有血红蛋白变异体的38例（7.8%），占所有筛查血红蛋白病样本的0.55%。杂合子HbDP占38例中的23例（61%），纯合子HbD/D、HbS/D和HbD/β分别占9/38（24%）、2/38（5%）和4/38（10%）。HbDP综合征并不罕见且相对诊断不足。CE-HPLC具有快速检测和准确定量的优势。电泳和CE-HPLC在准确诊断这些实体方面可以相互补充。
