Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2022; 21: 77-83
Редкий вариант нестабильного гемоглобина Hakkari в России: описание случая и обзор литературы
https://doi.org/10.24287/1726-1708-2022-21-3-77-83Аннотация
Нами описан единственный в России случай нестабильного гемоглобина Hakkari у двухлетнего русского мальчика с тяжелой трансфузионнозависимой анемией, возникшей в результате точечной de novo мутации гена b-глобина [b31(B13)Leu→Arg, HBB: c.95T>G]. Сочетание клинической картины тяжелой трансфузионнозависимой анемии, протекающей по типу большой формы b-талассемии, с отсутствием лабораторных признаков, характерных для данного заболевания, и наличием некоторых индивидуальных особенностей показателей крови затруднило диагностический поиск, который был завершен только благодаря современным молекулярно-генетическим методам. Проведенное сравнение всех известных случаев аномального нестабильного гемоглобина Hakkari позволяет выявить совпадения и различия клинико-лабораторного течения заболевания. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.
Список литературы
1. Lichtman M.A., Kaushansky K., Prchal J.T., Levi M.M., Burns L.J., Armitage J.O. Williams Manual of Hematology, 9e. Chapter 17: Hemoglobinopathies Associated with Unstable Hemoglobin. 2011.
2. Kohne E. Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Dtsch Arztebl Int 2011; 108 (31–32): 532–40.
3. [Электронный ресурс] URL: https://globin.bx.psu.edu/cgi-bin/hbvar/counter. Дата обращения 15.08.2022.
4. Румянцев А.Г. Гемоглобинопатии и талассемические синдромы. Под ред. Румянцева А.Г., Токарева Ю.Н., Сметаниной Н.С. М.: Изд-во «Практическая медицина»; 2015. С. 111–112.
5. Ohba Y. Unstable Hemoglobins. Hemoglobin 1990; 14: 353–88.
6. Zur B. Hemoglobin variants – pathomechanism, symptoms and diagnosis. J Lab Med 2015: 1–11.
7. Carrell R.W., Winterbourn C.C. The unstable hemoglobins. Tex Rep Biol Med 1980; 40: 431–45.
8. Hematology: Basic principles and practice. Hoffman R., Benz E.J., Shattil S.J., Furie B., Cohen H.J., Silberstein L.E., McGlave P. (eds.). 4th ed. 2005. 2821 p.
9. Zur B. Hemoglobin variants – pathomechanism, symptoms and diagnosis. J Lab Med 2015. DOI 10.1515/labmed-2015-0106
10. Milner P.F., Wrightstone R.N. The unstable hemoglobins: a review. Prog Clin Biol Res 1981; 51: 197–222.
11. Gürgey A., Altay C., Gu L.-H., Leonova J.Ye., Delibalta A., Öner C., et al. Hb Hakkari or a 2b231(B13) LEU→ARG, a severely unstable hemoglobin variant associated with numerous intra-erythroblastic inclusions and erythroid hyperplasia of the bone marrow. Hemoglobin 1995; 19 (3–4): 165–72.
12. Kanathezhath B., Hazard F.K., Guo H., Kidd J., Azimi M., Kuypers F.A., et al. Hemoglobin Hakkari: an autosomal dominant form of beta thalassemiawith inclusion bodies arising from de novo mutation in exon 2 of beta globin gene. Pediatr Blood Cancer 2010; 54 (2): 332–5.
13. Nair S., Eldjerou L.K., Harris N.S., Dunbar L.N. Rare form of autosomal dominant thalassemia – Hemoglobin Hakkari. Pediatr Blood Cancer 2014; 61: 2118–20.
Pediatric Hematology/Oncology and Immunopathology. 2022; 21: 77-83
Rare unstable hemoglobin Hakkari in Russia: a case report and literature review
https://doi.org/10.24287/1726-1708-2022-21-3-77-83Abstract
Here we report the first case of unstable hemoglobin Hakkari identified in Russia to our knowledge. It was diagnosed in a two-year-old Russian boy with severe transfusion-dependent anemia caused by a de novo mutation in the b-globin gene [b31(B13) Leu→Arg, HBB: c.95T>G]. Routine diagnostic methods were not effective, and his diagnosis was not established until gene sequencing of the globin gene was performed. A comparative analysis of all known cases of unstable Hb Hakkari allows for the identification of similarities and differences in the clinical and laboratory course of the disease. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.
References
1. Lichtman M.A., Kaushansky K., Prchal J.T., Levi M.M., Burns L.J., Armitage J.O. Williams Manual of Hematology, 9e. Chapter 17: Hemoglobinopathies Associated with Unstable Hemoglobin. 2011.
2. Kohne E. Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Dtsch Arztebl Int 2011; 108 (31–32): 532–40.
3. [Elektronnyi resurs] URL: https://globin.bx.psu.edu/cgi-bin/hbvar/counter. Data obrashcheniya 15.08.2022.
4. Rumyantsev A.G. Gemoglobinopatii i talassemicheskie sindromy. Pod red. Rumyantseva A.G., Tokareva Yu.N., Smetaninoi N.S. M.: Izd-vo «Prakticheskaya meditsina»; 2015. S. 111–112.
5. Ohba Y. Unstable Hemoglobins. Hemoglobin 1990; 14: 353–88.
6. Zur B. Hemoglobin variants – pathomechanism, symptoms and diagnosis. J Lab Med 2015: 1–11.
7. Carrell R.W., Winterbourn C.C. The unstable hemoglobins. Tex Rep Biol Med 1980; 40: 431–45.
8. Hematology: Basic principles and practice. Hoffman R., Benz E.J., Shattil S.J., Furie B., Cohen H.J., Silberstein L.E., McGlave P. (eds.). 4th ed. 2005. 2821 p.
9. Zur B. Hemoglobin variants – pathomechanism, symptoms and diagnosis. J Lab Med 2015. DOI 10.1515/labmed-2015-0106
10. Milner P.F., Wrightstone R.N. The unstable hemoglobins: a review. Prog Clin Biol Res 1981; 51: 197–222.
11. Gürgey A., Altay C., Gu L.-H., Leonova J.Ye., Delibalta A., Öner C., et al. Hb Hakkari or a 2b231(B13) LEU→ARG, a severely unstable hemoglobin variant associated with numerous intra-erythroblastic inclusions and erythroid hyperplasia of the bone marrow. Hemoglobin 1995; 19 (3–4): 165–72.
12. Kanathezhath B., Hazard F.K., Guo H., Kidd J., Azimi M., Kuypers F.A., et al. Hemoglobin Hakkari: an autosomal dominant form of beta thalassemiawith inclusion bodies arising from de novo mutation in exon 2 of beta globin gene. Pediatr Blood Cancer 2010; 54 (2): 332–5.
13. Nair S., Eldjerou L.K., Harris N.S., Dunbar L.N. Rare form of autosomal dominant thalassemia – Hemoglobin Hakkari. Pediatr Blood Cancer 2014; 61: 2118–20.
