Clinico-Hematological Profile of Hb Q India: An Uncommon Hemoglobin Variant
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Inherited hemoglobin disorders include thalassemias and structural variants like HbS, HbE, and HbD, Hb Lepore, HbD-Iran, Hb-H disease and HbQ India. HbQ India is an uncommon alpha-chain structural hemoglobin variant seen in North and West India. Patients are mostly asymptomatic and often present in the heterozygous state or co-inherited with beta-thalassaemia. This study was done in a tertiary care teaching hospital in North India over a period of 7 years among patients referred from antenatal and other clinics for screening of hemoglobin disorders. Complete blood count, peripheral blood smear examination and cation exchange high performance liquid chromatography (HPLC) was done to quantify various hemoglobins. HbQ India was diagnosed if the unknown variant hemoglobin was detected within the characteristic retention window. Of a total of 7530 patients screened, 31 (0.4%) were detected to have HbQ India. Of these, 25 (0.3%) patients had HbQ India trait and 6 (0.1%) patients had compound heterozygosity for HbQ India and Beta Thalassemia trait (HbQ India-BTT). All patients were clinically asymptomatic and were detected as part of the screening for hemoglobin disorders. Only two patients with HbQ India-BTT had hemoglobin less than 10 g/dL. In 25 patients with HbQ India trait, HbQ ranged from 13.6 to 24.4% and in 6 patients with HbQ India-BTT, HbQ India ranged from 7.4 to 9.0%. HbQ India is an uncommon structural hemoglobin variant. Although asymptomatic, it may cause diagnostic difficulty in the compound heterozygous state with beta thalassemia. HPLC provides a rapid, accurate and reproducible method for screening of this condition to identify and counsel individuals.
KeywordsBeta thalassemia HbQ India HPLC Structural variant
We acknowledge the support given by the Indian Council of Medical Research (ICMR), New Delhi as most of the patients had been worked up during an ICMR funded screening project.
Compliance with Ethical Standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. No patient/subject identifying information has been disclosed in the manuscript. No patient/subject intervention was done and the subjects were not exposed to any risks during the study.
Since the study involved a retrospective review of data only from routine testing offered by the laboratory, separate informed consent was not taken for the study. “For this type of study formal consent is not required.”
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