HBE homozygous haemoglobinpathy - Fortuitous finding
V L Premika Sri1, C Sreeja1, R Sathish Muthukumar1
1Department of Oral and Maxillofacial Pathology, Chettinad Dental College and Research Institute, Chennai, Tamil Nadu, India.
Abstract:
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.
More Related Videos
Related Concept Videos
Multiple Allele Traits
Genetic Lingo
Hemoglobin
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Rh Blood Group
Pedigree Analysis


