Severe central nervous system thrombotic events in hemoglobin Sabine patient
Само за регистроване кориснике
2004
Аутори
Pavlović, SonjaKuzmanović, M
Urosević, J
Poznanić, J
Zoranović, T
Đorđević, Valentina
Rasović, N
Bunjevacki, G
Cvorkov-Drazić, M
Colović, M
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG -- gt CCG) of beta-globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype. Extremely high level of Hb F and rather mild anemia in our patient could be partially explained by the presence of Ggamma Xmn I polymorphism. This case of Hb Sabine, unlike all other reported to date, shows extremely severe thromboembolic complications. It is our opinion that the hypercoagulable state described in thalassemia is not the only factor responsible for this specific clinical state. The presence of MTHFR C677T mutation in heterozygous state found in our patient and unstable Hb Sabine molecules could contribute to development of thromboembolic phenomena. However, it remains unclear whether other factor...s participate in pathogenesis of the disease. In this paper we emphasize different genetic background of father and son both affected with Hb Sabine, but with markedly different severity of the disease.
Кључне речи:
Hb Sabine / genetic predisposition to thrombophilia / cerebrovascular insultsИзвор:
European Journal of Haematology, 2004, 72, 1, 67-70Издавач:
- Wiley, Hoboken
DOI: 10.1046/j.0902-4441.2004.00174.x
ISSN: 0902-4441
PubMed: 14962267
WoS: 000187449500012
Scopus: 2-s2.0-10744226937
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Pavlović, Sonja AU - Kuzmanović, M AU - Urosević, J AU - Poznanić, J AU - Zoranović, T AU - Đorđević, Valentina AU - Rasović, N AU - Bunjevacki, G AU - Cvorkov-Drazić, M AU - Colović, M PY - 2004 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/197 AB - Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG -- gt CCG) of beta-globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype. Extremely high level of Hb F and rather mild anemia in our patient could be partially explained by the presence of Ggamma Xmn I polymorphism. This case of Hb Sabine, unlike all other reported to date, shows extremely severe thromboembolic complications. It is our opinion that the hypercoagulable state described in thalassemia is not the only factor responsible for this specific clinical state. The presence of MTHFR C677T mutation in heterozygous state found in our patient and unstable Hb Sabine molecules could contribute to development of thromboembolic phenomena. However, it remains unclear whether other factors participate in pathogenesis of the disease. In this paper we emphasize different genetic background of father and son both affected with Hb Sabine, but with markedly different severity of the disease. PB - Wiley, Hoboken T2 - European Journal of Haematology T1 - Severe central nervous system thrombotic events in hemoglobin Sabine patient EP - 70 IS - 1 SP - 67 VL - 72 DO - 10.1046/j.0902-4441.2004.00174.x ER -
@article{ author = "Pavlović, Sonja and Kuzmanović, M and Urosević, J and Poznanić, J and Zoranović, T and Đorđević, Valentina and Rasović, N and Bunjevacki, G and Cvorkov-Drazić, M and Colović, M", year = "2004", abstract = "Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG -- gt CCG) of beta-globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype. Extremely high level of Hb F and rather mild anemia in our patient could be partially explained by the presence of Ggamma Xmn I polymorphism. This case of Hb Sabine, unlike all other reported to date, shows extremely severe thromboembolic complications. It is our opinion that the hypercoagulable state described in thalassemia is not the only factor responsible for this specific clinical state. The presence of MTHFR C677T mutation in heterozygous state found in our patient and unstable Hb Sabine molecules could contribute to development of thromboembolic phenomena. However, it remains unclear whether other factors participate in pathogenesis of the disease. In this paper we emphasize different genetic background of father and son both affected with Hb Sabine, but with markedly different severity of the disease.", publisher = "Wiley, Hoboken", journal = "European Journal of Haematology", title = "Severe central nervous system thrombotic events in hemoglobin Sabine patient", pages = "70-67", number = "1", volume = "72", doi = "10.1046/j.0902-4441.2004.00174.x" }
Pavlović, S., Kuzmanović, M., Urosević, J., Poznanić, J., Zoranović, T., Đorđević, V., Rasović, N., Bunjevacki, G., Cvorkov-Drazić, M.,& Colović, M.. (2004). Severe central nervous system thrombotic events in hemoglobin Sabine patient. in European Journal of Haematology Wiley, Hoboken., 72(1), 67-70. https://doi.org/10.1046/j.0902-4441.2004.00174.x
Pavlović S, Kuzmanović M, Urosević J, Poznanić J, Zoranović T, Đorđević V, Rasović N, Bunjevacki G, Cvorkov-Drazić M, Colović M. Severe central nervous system thrombotic events in hemoglobin Sabine patient. in European Journal of Haematology. 2004;72(1):67-70. doi:10.1046/j.0902-4441.2004.00174.x .
Pavlović, Sonja, Kuzmanović, M, Urosević, J, Poznanić, J, Zoranović, T, Đorđević, Valentina, Rasović, N, Bunjevacki, G, Cvorkov-Drazić, M, Colović, M, "Severe central nervous system thrombotic events in hemoglobin Sabine patient" in European Journal of Haematology, 72, no. 1 (2004):67-70, https://doi.org/10.1046/j.0902-4441.2004.00174.x . .