Double challenge: β-thalassaemia caused by a heterozygous pathogenic variant in the HBV gene (c.315+1G>A) and ulcerative colitis in a 12-year-old girl (a rare clinical case)
Year: 2025
Type: article
Study design: Case Report
Abstract: Ulcerative colitis (UC) is a chronic inflammatory disease of the intestinal tract with an unknown etiology, characterized by a recurrent course and complications such as anaemia due to iron deficiency, vitamin B12 or B9 deficiencies, or autoimmune haemolysis. β-thalassaemia, an inherited disorder caused by changes in the structure of the β-globin gene (HBB) on chromosome 11, leads to impaired β-chain synthesis in haemoglobin and anaemia of varying severity. The coexistence of these conditions complicates diagnosis and treatment, as symptoms may interact or exacerbate each other. Anaemia in β-thalassaemia can worsen due to chronic blood loss or impaired absorption associated with UC. While UC has occasionally been reported with sickle cell anaemia, its coexistence with β-thalassaemia remains undocumented in the literature. Aim - to describe a clinical case of a rare combination of UC and β-thalassaemia in a 12-year-old girl. Clinical case. We report a unique case of UC associated with the NOD2-mutation with extraintestinal manifestations and β-thalassaemia in a 12-year-old girl, caused by a pathogenic heterozygous HBВ mutation (c.315+1G>A) (rs33945777). The patient presented with vomiting, diarrhoea with occasional blood, tenesmus, headaches, weight loss, and hepatosplenomegaly. Hypochromic microcytic anaemia was initially misinterpreted as iron deficiency. UC was diagnosed through clinical signs, colonoscopy, imaging, elevated IgG proteinase 3 antibodies, histopathological findings. β-thalassaemia was confirmed by Next Generation Sequencing (NGS) and Hb-electrophoresis. Conclusions. The coexistence of UC and β-thalassaemia in a 12-year-old girl represents a rare and complex case. Each of these pathological conditions requires a special multidisciplinary approach to treatment, taking into account the specifics of the disease. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.
Source: Modern pediatrics Ukraine
Authors: O.I. Dorosh, V.B. Voloshchuk, N.S. Trofimova
Institution: Ministry of Health
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4410980878