Email this article First cases of Hb Lepore in the Russian Federation
- Authors: Krasilnikova M.V.1, Karamyan N.A.1, Litvin E.A.1, Mann S.G.1
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Affiliations:
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
- Issue: Vol 20, No 3 (2021)
- Pages: 102-107
- Section: CLINICAL OBSERVATIONS
- Submitted: 08.10.2021
- Accepted: 08.10.2021
- Published: 08.10.2021
- URL: https://hemoncim.com/jour/article/view/548
- DOI: https://doi.org/10.24287/1726-1708-2021-20-3-102-107
- ID: 548
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Abstract
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.
About the authors
M. V. Krasilnikova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Author for correspondence.
Email: marina.krasilnikova@fccho-moscow.ru
ORCID iD: 0000-0002-0929-4792
Marina V. Krasilnikova, a Pediatrician at the Admissions Department
1 Samory Mashela St., Moscow 117997
Russian FederationN. A. Karamyan
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-9865-527X
Moscow
Russian FederationE. A. Litvin
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-6331-5339
Moscow
Russian FederationS. G. Mann
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-1014-5196
Moscow
Russian FederationReferences
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