@article{Colaco_Surve_Sawant_Nadkarni_Ghosh_Colah_2014, title={HbD Punjab/HbQ India compound heterozygosity: An unusual association.}, volume={6}, url={https://www.mjhid.org/mjhid/article/view/2014.072}, DOI={10.4084/mjhid.2014.072}, abstractNote={<p><strong>Background:</strong> Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. Both beta thalassaemia and structural haemoglobin variants are relatively common in north western India. Here we report a 29 year old Sindhi female who was referred to us for a haemoglobinopathy work up and genetic counseling since her spouse was a classical beta thalassaemia carrier.</p> <p><strong>Method:</strong> A complete blood count was done on an automated cell counter. Haemoglobin analysis was carried out using HPLC Variant Haemoglobin Testing System.  The cellulose acetate electrophoresis was carried out [pH 8.9]. Confirmation of mutations was done by automated DNA sequencing.</p> <p><strong>Results:</strong> HPLC analysis showed four major peaks, HbA<sub>0</sub>, a peak in the HbD window, an unknown peak [retention time 4.74 minutes] and a peak in the HbC window. The HbA<sub>2</sub> level was 2.2% and the HbF level was 0.7%.Cellulose acetate electrophoresis at alkaline pH, a slow moving band was seen at the HbS/D position along with a prominent band at the HbA<sub>2 </sub>position. DNA sequencing of the ? and ? genes showed presence of the 2 hemoglobin variants :Hb D [b 121GAA à CAA] and Hb Q [a 64 AAG à GAG]. The ? globin gene was normal. The additional peak in the HbC window was due to the formation of a heterodimer hybrid.</p> <p><strong>Conclusion:</strong> Both HbD Punjab and HbQ India are relatively common in India but their co-inheritance has not been described in the country. This is the second report of compound heterozygosity for HbQ India/HbD Punjab haemoglobinopathy globally, and the first one from India.</p>}, number={1}, journal={Mediterranean Journal of Hematology and Infectious Diseases}, author={Colaco, Stacy and Surve, Reema and Sawant, Pratibha and Nadkarni, Anita and Ghosh, Kanjaksha and Colah, Roshan}, year={2014}, month={Nov.}, pages={e2014072} }