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Double Heterozygous Hemoglobin Q India/ Hemoglobin D Punjab Hemoglobinopathy: Report of Two Rare Cases
oleh: Deepti Mutreja, Jasmita Dass, Narendra Tejwani, Mrinalini Kotru, Seema Tyagi
Format: | Article |
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Diterbitkan: | Mattioli1885 2014-08-01 |
Deskripsi
Cation Exchange High Performance Liquid Chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. Hb Q India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in compound heterozygous state with Hb D Punjab is extremely rare. The compound heterozygosity for ? and ? chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous Hb Q India/ Hb D Punjab where the hybrid Hb was seen to elute at retention time similar to Hb C on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation, while, the second case was asymptomatic.