| CASE REPORT |
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| Year : 2015 | Volume
: 4
| Issue : 4 | Page : 266-268 |
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Double heterozygous HbQ India/HbD Punjab hemoglobinopathy: A rare case report
Sujani C Madabhushi1, Uma Swarup Nugoori2, Kiran Kumar Doppalapudi2, Mukesh Agrawal3
1 Department of Hematology, Vimta Labs Limited, Hyderabad, Telangana, India
2 Department of Biochemistry, Vimta Labs Limited, Hyderabad, Telangana, India
3 Lab Director, Clinical Reference Laboratory, Vimta Labs Limited, Hyderabad, Telangana, India
Correspondence Address:
Sujani C Madabhushi
Department of Hematology, Vimta Labs Limited, 142, IDA, Phase II, Cherlapally, Hyderabad - 500 051, Telangana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2277-8632.171745
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Hemoglobinopathies constitute the most common genetic diseases in the world. In India, both beta-thalassemia and structural hemoglobin variants, such as hemoglobin S (HbS), hemoglobin D (HbD), and hemoglobin E (HbE), are common and pose significant health problem, these variants show heterozygous state along with beta-thalassemia. Compound heterozygosity among hemoglobin variants is very rare. Cation-exchange high-performance liquid chromatography (CE HPLC) provides accurate and reliable diagnosis of various hemoglobin variants. Here, we report an index case of double heterozygous hemoglobinopathy, hemoglobin Q (HbQ) India/HbD Punjab (ααQ India-ββD Punjab) using CE HPLC. This is the fifth report of double heterozygosity for HbQ India/HbD Punjab globally and fourth case report from India to the best of our knowledge. |
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