title: Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy.
abstract: 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.
authors.affiliation: Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Aastha
authors.initials: A
authors.lastname: Gupta
authors.affiliation: Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Amrita
authors.initials: A
authors.lastname: Saraf
authors.affiliation: Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Jasmita
authors.initials: J
authors.lastname: Dass
authors.affiliation: Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Meenal
authors.initials: M
authors.lastname: Mehta
authors.affiliation: Department of Pediatric Hematology-Oncology, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Nita
authors.initials: N
authors.lastname: Radhakrishnan
authors.affiliation: Department of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.affiliation: Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Manorama
authors.initials: M
authors.lastname: Bhargava
keywords: Compound heterozygous; HbD-Iran; HbD-Punjab; Hemoglobin variant; Novel hemoglobinopathy