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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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Detalles Bibliográficos
Autores principales: Sri, V. L. Premika, Sreeja, C, Muthukumar, R. Sathish, Nachiammai, N., Jayaraj, Merlin, Priya, A. H. Harini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10112082/
https://www.ncbi.nlm.nih.gov/pubmed/37082065
http://dx.doi.org/10.4103/jomfp.jomfp_98_22
Descripción
Sumario: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.