Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children54810.24287/1726-1708-2021-20-3-102-107CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯFirst cases of Hb Lepore in the Russian FederationПервые случаи Hb Lepore в Россииhttps://orcid.org/0000-0002-0929-4792KrasilnikovaM. V.КрасильниковаМ. В.
Russian Federation

Marina V. Krasilnikova, a Pediatrician at the Admissions Department

1 Samory Mashela St., Moscow 117997 

Красильникова Марина Владимировна, врач-педиатр приемного отделения

117997, Москва, ул. Саморы Машела, 1

marina.krasilnikova@fccho-moscow.ruhttps://orcid.org/0000-0002-9865-527XKaramyanN. A.КарамянН. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-6331-5339LitvinE. A.ЛитвинЕ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-1014-5196MannS. G.МаннС. Г.
Russian Federation

Moscow

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России081020212031021070810202108102021Copyright ©; 2021, «D. Rogachev NMRCPHOI»Copyright ©; 2021, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2021«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/548

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.

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.

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