Triple Heterozygosity: A Riveting Coinheritance
Abstract
Medical literature has witnessed various heterozygous combinations between thalassemia and hemoglobin variants posing diagnostic challenges but very few case reports have been reported stating double heterozygosity among hemoglobinopathies themselves, let alone in a combination with thalassemia. We report one such rare presentation of triple heterozygosity on cation exchange-high performance liquid chromatography (CE-HPLC) of beta thalassemia trait coexisting with Hb D Punjab and Hb Q India in an adult female who presented with fever, pain abdomen, vomiting and had a past history of intermittent jaundice and recurrent anemia in childhood as well. A positive family history of patient’s father’s beta thalassemia trait and patient’s mother’s Hb D Punjab and Hb Q India helped us clinch the diagnosis in our index case, thus proving family screening to be an inexpensive and rapid way to resolve HPLC patterns.References
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Copyright (c) 2024 Vishesh Dhawan, Charu Batra Atreja, Neha Batra, Ayushi Kediya
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