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Indian Journal of Pathology and Microbiology
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CASE REPORT
Year : 2020  |  Volume : 63  |  Issue : 3  |  Page : 481-484

Case series of HbQ-India, a rare alpha globin variant in a referral laboratory setting in South India


1 Department of Hematopathology, AmPath, Hyderabad, Telangana, India
2 Department of Transfusion Medicine, Citizens Hospitals, Hyderabad, Telangana, India
3 Department of Cytogenetics, AmPath, Hyderabad, Telangana, India

Correspondence Address:
Manu Goyal
Department of Hematopathology, AmPath, Serilingampally, Nallagandla, Hyderabad - 500 019, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJPM.IJPM_465_19

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HbQ variants are rare alpha globin chain variants commonly found in Sindhi community. It results from a point mutation of α-1 globin gene at position 223 of the coding region of exon 64. It is inherited in an autosomal dominant fashion. HbQ-India is usually clinically silent in heterozygous state unless associated with other conditions like beta thalassemia, alpha thalassemia, HbE disease, or nutritional anemia. High performance liquid chromatography (HPLC) identifies HbQ-India with a prominent peak present just after the Sickle window. We present five cases of HbQ-India from a retrospective analysis of 6034 cases over a period of 3 years, a rarity in a referral setting of South India. Awareness of this entity is important for appropriate recognition to prevent clinically symptomatic hemoglobinopathies. This study also highlights the retention time (RT) and characteristic chromatographic HPLC pattern seen in HbQ-India.


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