Triple Heterozygosity: A Riveting Coinheritance

Authors

  • Vishesh Dhawan Department of Pathology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Maharishi Markandeshwar Deemed to be University, Mullana-Ambala, Haryana, India https://orcid.org/0000-0002-6445-9385
  • Charu Batra Atreja Department of Pathology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Maharishi Markandeshwar Deemed to be University, Mullana-Ambala, Haryana, India https://orcid.org/0000-0002-0168-2467
  • Neha Batra Department of Pathology, Punjab Institute of Medical Sciences, Jalandhar, Punjab, India https://orcid.org/0009-0009-1769-6554
  • Ayushi Kediya Department of Pathology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Maharishi Markandeshwar Deemed to be University, Mullana-Ambala, Haryana, India https://orcid.org/0000-0003-1414-5799

DOI:

https://doi.org/10.21276/apalm.3284

Keywords:

Beta Thalassemia, Hb D Punjab, Hb Q India, Hemoglobinopathy

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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Published

05-01-2024

How to Cite

1.
Dhawan V, Atreja CB, Batra N, Kediya A. Triple Heterozygosity: A Riveting Coinheritance. Ann of Pathol and Lab Med [Internet]. 2024 Jan. 5 [cited 2024 Nov. 19];11(1):C17-22. Available from: https://pacificejournals.com/journal/index.php/apalm/article/view/3284

Issue

Section

Case Report