Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2020; 19: 73-76
Трансфузионно-зависимый фенотип талассемии при сочетании аномалий глобиновых генов: трипликация a-глобиновых генов с b-талассемией
https://doi.org/10.24287/1726-1708-2020-19-3-73-76Аннотация
Список литературы
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4. Sampietro M., Cazzola P., Cappellini M.D., Fiorelli G. The triplicated alpha-gene locus and heterozygous beta thalassaemia: a case of thalassaemia intermedia. Br J Haematol 1983; 55 (4): 709–10. DOI: 10.1111/j.1365-2141.1983.tb02854.x
5. Galanello R., Ruggeri R., Paglietti E., Addis M., Melis M.A., Cao A. A family with segregating triplicated alpha globin locus and beta thalassemia. Blood 1983; 62 (5): 1035–40.
6. Traeger-Synodinos J., Kanavakis E., Vrettou C., Maragoudaki E., Nichael T., Metaxotou-Mavromati A., Kattamis C. The Triplicated Alpha-Globin Gene Locus in Beta-Thalassaemia Heterozygotes: Clinical, Haematological, Biosynthetic and Molecular Studies. Br J Haematol 1997; 95 (3): 467–71. DOI: 10.1046/j.1365-2141.1996.d01-1939.x
7. Mehta P.R., Upadhye D.S., Sawant P.M., Gorivale M.S., Nadkarni A.H., Shanmukhaiah C., et al. Diverse phenotypes and transfusion requirements due to interaction of b-thalassemias with triplicated a-globin genes. Ann Hematol 2015; 94 (12): 1953–8. DOI: 10.1007/s00277-015-2479-8
8. Wang C., Amato D. Chronic and severe haemolytic anaemia caused by co-inheritance of beta-thalassaemia and triplicated alpha-globin genes. Br J Haematol 2007; 137 (6): 489. DOI: 10.1111/j.1365-2141.2007.06575.x
9. Li C.K. New trend in the epidemiology of thalassaemia. Вest Pract Res Clin Obstet Gynaecol 2017; 39: 16–26. DOI: 10.1016/j.bpobgyn.2016.10.013
Pediatric Hematology/Oncology and Immunopathology. 2020; 19: 73-76
Transfusion-dependent phenotype of thalassemia in case of combined carriage of globin genes abnormalities: a-globin gene triplikation and b-thalassemia
https://doi.org/10.24287/1726-1708-2020-19-3-73-76Abstract
Thalassemia is a group of hereditary hemolytic anemias, caused by a quantitative violation of the globin chains synthesis. In adults, the main hemoglobin (HbA) consists of two a- and two b-chains. Normally, regulatory mechanisms maintain a balance between a- and non-a-globin chains in a 1:1 ratio. Mutations in the b-globin gene, leading to a quantitative disruption of the synthesis of b-globin chains, lead to the development of b-thalassemia. In such patients, the presence of concomitant breakdowns of a-globin genes can determine the variability of the clinical symptoms, both mitigating or increasing the severity of the manifestations of beta-thalassemia. The article describes two clinical cases of transfusion-dependent thalassemia with a rare genotype: aaaanti-3.7/aa and b-thalassemia. Parents gave their consent to use information about the child, including fotos, in the article.
References
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2. Weatherall D.J., Clegg J.B. The Thalassaemia Syndromes. Blackwell Scientific Publications, Oxford, 1981.
3. Wainscoat J.S., Kanavakis E., Wood W.G., Letsky E.A., Huehns E.R., Marsh G.W., et al. Thalassaemia intermedia in Cyprus: the interaction of a- and b-thalassaemia. Br J Haematol 1983; 53 (3): 411–6. DOI: 10.1111/j.1365-2141.1983.tb02041.x
4. Sampietro M., Cazzola P., Cappellini M.D., Fiorelli G. The triplicated alpha-gene locus and heterozygous beta thalassaemia: a case of thalassaemia intermedia. Br J Haematol 1983; 55 (4): 709–10. DOI: 10.1111/j.1365-2141.1983.tb02854.x
5. Galanello R., Ruggeri R., Paglietti E., Addis M., Melis M.A., Cao A. A family with segregating triplicated alpha globin locus and beta thalassemia. Blood 1983; 62 (5): 1035–40.
6. Traeger-Synodinos J., Kanavakis E., Vrettou C., Maragoudaki E., Nichael T., Metaxotou-Mavromati A., Kattamis C. The Triplicated Alpha-Globin Gene Locus in Beta-Thalassaemia Heterozygotes: Clinical, Haematological, Biosynthetic and Molecular Studies. Br J Haematol 1997; 95 (3): 467–71. DOI: 10.1046/j.1365-2141.1996.d01-1939.x
7. Mehta P.R., Upadhye D.S., Sawant P.M., Gorivale M.S., Nadkarni A.H., Shanmukhaiah C., et al. Diverse phenotypes and transfusion requirements due to interaction of b-thalassemias with triplicated a-globin genes. Ann Hematol 2015; 94 (12): 1953–8. DOI: 10.1007/s00277-015-2479-8
8. Wang C., Amato D. Chronic and severe haemolytic anaemia caused by co-inheritance of beta-thalassaemia and triplicated alpha-globin genes. Br J Haematol 2007; 137 (6): 489. DOI: 10.1111/j.1365-2141.2007.06575.x
9. Li C.K. New trend in the epidemiology of thalassaemia. Vest Pract Res Clin Obstet Gynaecol 2017; 39: 16–26. DOI: 10.1016/j.bpobgyn.2016.10.013
