Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2021; 20: 102-107
Первые случаи Hb Lepore в России
https://doi.org/10.24287/1726-1708-2021-20-3-102-107Аннотация
Hb Lepore как результат слияния фрагментов b- и d-глобиновых генов приводит к снижению продукции не-a-глобиновых цепей, участвующих в образовании гемоглобина. До настоящего времени случаев Hb Lepore в России описано не было. Мы приводим описание двух случаев, один из них семейный, Hb Lepore Boston–Washington. Незначительное количество аномального гемоглобина обнаружено при капиллярном электрофорезе, с помощью высокоэффективной жидкостной хроматографии цепей гемоглобина показано наличие аномальной глобиновой цепи, окончательный диагноз: Hb Lepore Boston–Washington был установлен после молекулярно-биологического анализа глобиновых генов. У всех носителей выявлены аномалии в периферичекой крови. Родители пациентов дали согласие на использование информации, в том числе фотографий детей, в научных исследованиях и публикациях.
Список литературы
1. Baglioni C. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. Proc Natl Acad Sci USA 1962; 48: 1880–6.
2. Ostertag W., Smith E.W. Hemoglobin Lepore Baltimore, a third type of a crossover (d50/b86). Eur J Biochem 1969; 10: 371–6.
3. Baird M., Schreiner H., Driscoll C., Bank A. Localization of the site of recombination in formation of the Lepore Boston globin gene. J Clin Invest 1981; 68: 560–4.
4. Barnabas J., Muller C.J. Hemoglobin Lepore Hollandia. Nature 1962; 194: 931–2.
5. Weatherall D., Higgs D.R. The haemoglobinopathies. Bailliere’s Clinical Haematology, VI. London: Saunders; 1993.
6. Harteveld C.L., Wijermans P.W., Arkesteijn S.G.J., Van Delft P., Kerkhoffs J.-L., Giordano P.C. Hb Lepore-Leiden: a new d/b rearrangement associated with a b-thalassemia minor phenotype. Hemoglobin 2008; 32 (5): 446–53.
7. Nussenzveig R.H., Vanhille D.L., Hussey D., Agarwal A.M. Development of a rapid multiplex PCR assay for identification of the three common hemoglobin Lepore variants (Boston–Washington, Baltimore, and Hollandia) and identification of a new Lepore variant. Am J Hematology 2012; 87 (10): E74–5.
8. Pirastru M., Manca L., Trova S., Mereu P. Biochemical and Molecular Analysis of the Hb Lepore–Boston– Washington in a Syrian Homozygous Child. Biomed Res Int 2017; 2017: 1261972.
9. Ribeiro М.L., Cunha E., Goncalves P., Martin Nuiiez G., Fernandez Galan М.А., Tamagnini G.P., Smetanina N.S., Gu L.-H., Huisman T.H.J. Нb Lepore– Baltimore (d68Leu–b84Thr) and НЬ Lepore–Washington–Boston (d87Gln–bIVS–II–8) in Central Portugal and Spanish Alta Extremadura. Hum Genet 1997; 99: 669–73.
Pediatric Hematology/Oncology and Immunopathology. 2021; 20: 102-107
First cases of Hb Lepore in the Russian Federation
https://doi.org/10.24287/1726-1708-2021-20-3-102-107Abstract
Hb Lepore, as the result of fusion of the b- and d-globin genes, leads to decreased amount of non-a-globin chains availability for hemoglobin formation. Hb Lepore, up to now, was not identified among Russian patients. We provide clinical and laboratory information on Hb Lepore Boston–Washington in two cases, one of them familial. A small amount of abnormal Hb was detected by capillary electrophoresis, an abnormal globin chain was shown by HPLC, and the final diagnosis of Hb Lepore Boston– Washington was made by molecular biological analysis of globin genes. Peripheral blood for all affected people revealed RBC’s hypochromia microcytosis and normal Hb concentration. The parents of the patients agreed to use the information, including photos of children, in scientific research and publications.
References
1. Baglioni C. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. Proc Natl Acad Sci USA 1962; 48: 1880–6.
2. Ostertag W., Smith E.W. Hemoglobin Lepore Baltimore, a third type of a crossover (d50/b86). Eur J Biochem 1969; 10: 371–6.
3. Baird M., Schreiner H., Driscoll C., Bank A. Localization of the site of recombination in formation of the Lepore Boston globin gene. J Clin Invest 1981; 68: 560–4.
4. Barnabas J., Muller C.J. Hemoglobin Lepore Hollandia. Nature 1962; 194: 931–2.
5. Weatherall D., Higgs D.R. The haemoglobinopathies. Bailliere’s Clinical Haematology, VI. London: Saunders; 1993.
6. Harteveld C.L., Wijermans P.W., Arkesteijn S.G.J., Van Delft P., Kerkhoffs J.-L., Giordano P.C. Hb Lepore-Leiden: a new d/b rearrangement associated with a b-thalassemia minor phenotype. Hemoglobin 2008; 32 (5): 446–53.
7. Nussenzveig R.H., Vanhille D.L., Hussey D., Agarwal A.M. Development of a rapid multiplex PCR assay for identification of the three common hemoglobin Lepore variants (Boston–Washington, Baltimore, and Hollandia) and identification of a new Lepore variant. Am J Hematology 2012; 87 (10): E74–5.
8. Pirastru M., Manca L., Trova S., Mereu P. Biochemical and Molecular Analysis of the Hb Lepore–Boston– Washington in a Syrian Homozygous Child. Biomed Res Int 2017; 2017: 1261972.
9. Ribeiro M.L., Cunha E., Goncalves P., Martin Nuiiez G., Fernandez Galan M.A., Tamagnini G.P., Smetanina N.S., Gu L.-H., Huisman T.H.J. Nb Lepore– Baltimore (d68Leu–b84Thr) and N'' Lepore–Washington–Boston (d87Gln–bIVS–II–8) in Central Portugal and Spanish Alta Extremadura. Hum Genet 1997; 99: 669–73.
