Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Haemoglobin Lepore"'
Autor:
Aldo Filosa, Silvia Costantini, Tiziana Di Matola, Patrizia Cinque, Leonilde Pagano, Anna Spasiano, Caterina Saporito, Massimiliano Ammirabile, Paolo Ricchi
Publikováno v:
Hematology (Amsterdam, Netherlands). 22(7)
To date in Italy, there is paucity on data about the prevalence, clinical and haematological features of patients carrying the haemoglobin (Hb) Lepore variant in homozygous or in association with other haemoglobinopathies.Here we report the results o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a882ca6be0d83ba42a9b9910a050e933
https://pubmed.ncbi.nlm.nih.gov/28218017
https://pubmed.ncbi.nlm.nih.gov/28218017
Autor:
J.B. Clegg, D.J. Weatherall
Publikováno v:
The Thalassaemia Syndromes, Fourth Edition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::67a1e5e6bc5e03bf25145ffb03979061
https://doi.org/10.1002/9780470696705.ch8
https://doi.org/10.1002/9780470696705.ch8
Autor:
Elisabete Cunha, Helena Almeida, Licínio Manco, Fátima Ferreira, M. Letícia Ribeiro, Celeste Bento, Rita Coutinho
Publikováno v:
British Journal of Haematology. 144:615-616
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0629949192e1dda7b2f6f93db55fbf47
https://doi.org/10.1111/j.1365-2141.2008.07479.x
https://doi.org/10.1111/j.1365-2141.2008.07479.x
Akademický článek
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Publikováno v:
Journal of Medical Genetics. 12:275-279
Structural analysis documented the presence of haemoglobin LeporeWashington (=LeporeBoston) in a Greek Cypriot family and provided further evidence that, of the various types of Lepore mutants, only one is common in the Mediterranean area. Two indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b686924bef618c19bb0920876caa6cc
https://doi.org/10.1136/jmg.12.3.275
https://doi.org/10.1136/jmg.12.3.275
Autor:
R. Testa, Antonio Russo, Salvatore Musumeci, Gino Schilirò, Maria Antonietta Romeo, G.V. Russo, F Di Gregorio
Publikováno v:
British Journal of Haematology. 55:473-477
This paper reports a Sicilian family in which beta-thalassaemia, haemoglobin Lepore Boston-Washington and heterotocellular hereditary persistence of fetal haemoglobin (HPFH) were present in various combinations. The most interesting combination was t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d93fd42a8894359c0b724ccb8468dcd
https://doi.org/10.1111/j.1365-2141.1983.tb02162.x
https://doi.org/10.1111/j.1365-2141.1983.tb02162.x
Publikováno v:
Journal of Medical Genetics. 17:179-182
In the south-east of Sicily 23 children from 14 unrelated families have been diagnosed as suffering from haemoglobin Lepore. Such a high incidence shows that Sicily is an important focus of haemoglobin Lepore. The results of haematological and biosyn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40520d68973b648ea254a684678ee5c0
https://doi.org/10.1136/jmg.17.3.179
https://doi.org/10.1136/jmg.17.3.179
Publikováno v:
Acta Haematologica. 56:234-240
A case of haemoglobin Lepore is reported in a Spanish patient who has a sideropenic anaemia and possibly a thalassaemia trait. The carrier’s clinical and haematological data are described. The structu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d4ac9ab89b44ffca818afb2ccfbd69a
https://doi.org/10.1159/000207943
https://doi.org/10.1159/000207943
Autor:
Valerto Ventruto, Benedetta Luppis
Publikováno v:
Acta Haematologica. 61:216-221
Globin chain synthesis has been investigated for the first time in 2 patients homozygous for haemoglobin Lepore, although the 2 brothers have the same haemoglobin genotype the severity of the diseases is very different. The purpose of this study was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cab9478baf357db856026dea729aaaa
https://doi.org/10.1159/000207659
https://doi.org/10.1159/000207659
Publikováno v:
Medical Journal of Australia. 2:706-709
Haemoglobin Lepore is a haemoglobin variant associated with a thalassaemia-like disorder. It has been only rarely detected in Anglo-Saxons and its occurrrence in an Australian family of British and stock is reported for the first time. The appearance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6844a2a258f168252f297d7ab18bd466
https://doi.org/10.5694/j.1326-5377.1975.tb106222.x
https://doi.org/10.5694/j.1326-5377.1975.tb106222.x