复合杂合子血红蛋白D-旁遮普型/血红蛋白D-伊朗型：一种新型血红蛋白病。
Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy.
作者信息
Gupta Aastha, Saraf Amrita, Dass Jasmita, Mehta Meenal, Radhakrishnan Nita, Saxena Renu, Bhargava Manorama
机构信息
Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India.
Department of Pediatric Hematology-Oncology, Sir Ganga Ram Hospital, New Delhi, India.
出版信息
Indian J Hematol Blood Transfus. 2014 Sep;30(Suppl 1):409-12. doi: 10.1007/s12288-014-0441-x. Epub 2014 Aug 8.
Cation exchange high performance liquid chromatography (CE- HPLC) is an excellent tool for the diagnosis of various hemoglobin (Hb) disorders. HbD-Punjab is an uncommon structural Hb variant seen in North-India. Rarely, a compound heterozygous state for HbD-Punjab with high HbA2 has been described. We describe an index case whose CE-HPLC showed a compound heterozygous state for Hb-Punjab/HbD-Iran which was confirmed by family study, acid and alkaline electrophoresis and beta gene sequencing. This case highlights the role of alkaline and acid electrophoresis to resolve common peaks that elute with HbA2 on CE-HPLC. To the best of our knowledge, this compound heterozygous state of HbD-Punjab with HbD-Iran has not been reported earlier.
阳离子交换高效液相色谱法（CE-HPLC）是诊断各种血红蛋白（Hb）疾病的一种出色工具。HbD-旁遮普是在印度北部发现的一种罕见的结构性Hb变异体。很少有关于HbD-旁遮普与高HbA2的复合杂合状态的描述。我们描述了一个索引病例，其CE-HPLC显示为Hb-旁遮普/HbD-伊朗的复合杂合状态，这通过家系研究、酸碱电泳和β基因测序得到了证实。该病例突出了酸碱电泳在解析CE-HPLC上与HbA2一同洗脱的常见峰中的作用。据我们所知，HbD-旁遮普与HbD-伊朗的这种复合杂合状态此前尚未见报道。
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