HBE homozygous haemoglobinpathy - Fortuitous finding

A 24-year-old male patient presented with the principal complaint of deposits on his teeth and gingival pigmentation. After examination, he was diagnosed with chronic generalized gingivitis. He was further referred for pre-procedural routine blood investigations. Bleeding time, clotting time, and hi...

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Bibliographic Details
Published in:Journal of oral and maxillofacial pathology : JOMFP 2022-10, Vol.26 (4), p.580-582
Main Authors: Premika Sri, V, Sreeja, C, Muthukumar, R, Nachiammai, N, Jayaraj, Merlin, Harini Priya, A
Format: Article
Language:English
Subjects:
Case Report
Clotting
Erythrocytes
Genetic counseling
Gingivitis
Health aspects
Hemoglobin
High performance liquid chromatography
Pigmentation
Polycythemia
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Summary:A 24-year-old male patient presented with the principal complaint of deposits on his teeth and gingival pigmentation. After examination, he was diagnosed with chronic generalized gingivitis. He was further referred for pre-procedural routine blood investigations. Bleeding time, clotting time, and his random blood sugar values were normal. CBC report revealed the presence of erythrocytosis with microcytic hypochromic red blood cells. Following this peripheral smear was taken which reveals the presence of polychromatophils, target cells and a few spherocytes. Haemoglobin electrophoresis by high-performance liquid chromatography (HPLC) was performed which disclosed 90.8% of HbE, suggestive of homozygous haemoglobinopathy. He had no other associated systemic findings, and there was no relevant family history. The patient was informed about his condition and stated to have pre-marital and pre-natal genetic counselling in the future. The patient being a carrier of the thalassaemic trait happened to know his condition incidentally, which could prevent future complications.
ISSN:0973-029X
1998-393X
DOI:10.4103/jomfp.jomfp_98_22