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Case Reports
. 2013 Oct;19(4):479-82.
doi: 10.4103/0971-6866.124381.

Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases

Deepti Mutreja  1 , Seema Tyagi  1 , Narender Tejwani  1 , Jasmita Dass  1
Affiliations
Case Reports

Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases

Deepti Mutreja et al. Indian J Hum Genet. 2013 Oct.

Abstract

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.

Keywords: Double heterozygous; hemoglobin Q India; hemoglobin Q Punjab; high performance liquid chromatography.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Cation exchange high performance liquid chromatography of case 1 (proband and parents). The patient's sample (a) demonstrates four prominent peaks: Hemoglobin (Hb) A, HbD Punjab, HbQ India, and the hybrid HbQ India/HbD Punjab eluting in HbC window (retention time 4.96 - 4.97 min). The parent's samples (b and c) demonstrate two prominent peaks of HbA and HbQ India and HbA and HbD Punjab, respectively
Figure 2
Figure 2
Agarose gel electrophoresis at alkaline pH showed bands in the A, S, and C positions. This was interpreted as HbA in the A position, HbD Punjab in the S position, and HbD Punjab/HbQ India in the C position
Figure 3
Figure 3
Pedigree of family with HbQ India/HbD Punjab double heterozygosity. The arrow indicates the case. The father was heterozygote for HbD Punjab and mother was HbQ India heterozygote. His son has inherited only the heterozygous HbQ India and his wife is normal
Figure 4
Figure 4
CE HPLC of case 2 (proband and parents). The patient's sample (a) demonstrates four prominent peaks: HbA, HbD Punjab, HbQ India, and the hybrid HbQ India/HbD Punjab eluting in Hb C window (retention time 4.96 - 4.97 min). The parents’ samples (b and c) demonstrate two prominent peaks of HbA and HbD Punjab and HbA and HbQ India, respectively
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