| CASE REPORT |
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| Year : 2013 | Volume
: 19
| Issue : 4 | Page : 479-482 |
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Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
Deepti Mutreja, Seema Tyagi, Narender Tejwani, Jasmita Dass
Department of Haematology, All India Institute of Medical Sciences, New Delhi, India
Correspondence Address:
Deepti Mutreja
Department of Haematology, All India Institute of Medical Sciences, New Delhi
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.124381
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Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state with HbD Punjab is extremely rare. The double heterozygosity for α and β chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous HbQ India/HbD Punjab where the hybrid Hb was seen to elute at retention time similar to HbC on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation; while, the second case was asymptomatic. |
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