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SM ISO690:2012 MIHALACHI-ANGHEL, Maria. Hemoglobinopatia Lepore. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 568. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Pag. 568-568 | ||||||
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Background. Lepore hemoglobinopathy is an unusual hemoglobinopathy and represents 6-15% of all hemoglobinopathies already studied. It is an inherited mutation resulting from the δβ gene fusion products. Objective of the study. Analysis and presentation of the first case from the activity of Hematology and General Pediatrics Department of Lepore hemoglobinopathy and study of the specialized literature. Material and Method. Patient Z., female, age 11 years, hospitalized in the Department of Hematology and General Pediatrics, Institute of Mother and Child, presents pronounced pallor of skin and mucous, severe anemia, and refractory to the previous antianemic therapy. Results. Clinical and paraclinical investigations established severe anemia, hepatomegaly and a minor hemolytic syndrome. The diagnosis of Lepore hemoglobinopathy was established based on specific tests - hemoglobin electrophoresis, highlighting the abnormal fraction - Lepore hemoglobin 10.1%. Lepore syndrome, a very similar clinic, in the form of heterozygotes, with minor β-thalassemia, is characterized by electrophoretic presence of Hb Lepore 5-10%. Genetic confirmation is the most accurate method of diagnosis, but the technique is complicated and extremely expensive, which would have diminished its usefulness. Conclusion. Anemic syndrome is common in children, but usually it is a real challenge when it comes to establish a certain diagnosis. In the Republic of Moldova, this case is unique in that it creates difficulties confirming the diagnosis. |
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Cuvinte-cheie hemolytic anemia, hemoglobinopathy, Lepore, anemie hemolitică, Hemoglobinopatia Lepore |
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