Clinical case of late diagnosis of hereditary microspherocytosis
M.A. KUNST1, 2, А.V. KOSTERINA2, N.V. ISKHAKOVA2
¹Republic Clinical Hospital, Kazan
²Kazan State Medical University, Kazan
Contact details:
Kosterina A.V. ― Assistant Lecturer of the Department of Hospital Therapy
Address: 49 Butlerov St., Kazan, Russian Federation, 420012, tel.: +7-917-273-77-68, e-mail: avakost@mail.ru
Hereditary spherocytosis is a congenital hemolytic anemia, with an autosomal dominant type of inheritance, characterized by a violation of the structure of the erythrocyte membrane (microspherocytosis), increased osmotic fragility of erythrocytes, excessive destruction in the vasculature of the spleen, with a pronounced favorable response to splenectomy. Excessive destruction of red blood cells leads to anemia, reticulocytosis, hyperbilirubinemia (due to the indirect fraction) followed by cholelithiasis. The factor that aggravates the course of microspherocytosis is folate deficiency, which can appear both in people with limited nutrition and in pregnant women.
Key words: microspherocytosis, hemolytic anemia, hemolytic crisis, pregnancy, cholelithiasis.
REFERENCES
- Rumyantsev A.G., Maschan A.A. Federal’nye klinicheskie rekomendatsii po diagnostike i lecheniyu nasledstvennogo sferotsitoza [Federal clinical guidelines for the diagnosis and treatment of hereditary spherocytosis], 2014.
- Zabela A.V., Selivanov V.S., Babaeva T.N., Kovynev I.B. Rare diseases of the blood system: a clinical case of virus-associated bone marrow aplasia in a patient with hereditary membranopathy (literature review). Sibirskiy nauchnyy meditsinskiy zhurnal, 2019, vol. 39, no. 1.
- Barcellini W., Bianchi P., Fermo E. et al. Hereditary red cell membrane defects: diagnostic and clinical aspects. Blood Transfus, 2011, vol. 9 (3), pp. 274–277.
- Bolton-Maggs P.H.B., Stevens R.F., Dodd N.J. et al. On behalf of the General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis. Br. J. Haematol, 2004, vol. 126, pp. 455–474.
- Perrotta S., Gallagher P.G., Mohandas N. Hereditary spherocytosis. Lancet, 2008, vol. 372, pp. 1411–1426.
- Schilling R.F. Risks and benefits of splenectomy versus no splenectomy for hereditary spherocytosis: a personal view. British Journal of Haematology, 2009, vol. 145, pp. 728–732.
- Perrotta S., Gallagher P.G., Mohandas N. Hereditary spherocytosis. Lancet, 2008, vol. 372, pp. 1411–1426.
- Mariani M., Barcellini W., Vercellati S. et al. Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. Haematologica, 2008, vol. 93, pp. 1310–1317.