Compound Heterozygous Hemoglobin D-Punjab/Hemoglobin D-Iran: A Novel Hemoglobinopathy

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• 作者：Aastha Gupta (1)
  Amrita Saraf (1)
  Jasmita Dass (1)
  Meenal Mehta (1)
  Nita Radhakrishnan (2)
  Renu Saxena (3)
  Manorama Bhargava (1)
  
  1. Department of Hematology ; Sir Ganga Ram Hospital ; New Delhi ; India
  2. Department of Pediatric Hematology-Oncology ; Sir Ganga Ram Hospital ; New Delhi ; India
  3. Department of Medical Genetics ; Sir Ganga Ram Hospital ; New Delhi ; India
  
• 关键词：HbD ; Punjab ; HbD ; Iran ; Novel hemoglobinopathy ; Hemoglobin variant ; Compound heterozygous
• 刊名：Indian Journal of Hematology and Blood Transfusion
• 出版年：2014
• 出版时间：September 2014
• 年：2014
• 卷：30
• 期：1-supp
• 页码：409-412
• 全文大小：649 KB
• 参考文献：1. Pauling, L, Itano, HA, Singer, SJ, Wells, K (1949) Sickle cell anemia: a molecular disease. Science 110: pp. 543-548 CrossRef
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• 刊物主题：Hematology; Oncology; Blood Transfusion Medicine; Human Genetics;
• 出版者：Springer India
• ISSN：0974-0449

文摘

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.