HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Severe central nervous system thrombotic events in hemoglobin Sabine patient.

Abstract
Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG --> 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 G gamma 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.
AuthorsSonja Pavlovic, Milos Kuzmanovic, Jelena Urosevic, Jelena Poznanic, Tamara Zoranovic, Valentina Djordjevic, Nada Rasovic, Gordana Bunjevacki, Milica Cvorkov-Drazic, Milica Colovic
JournalEuropean journal of haematology (Eur J Haematol) Vol. 72 Issue 1 Pg. 67-70 (Jan 2004) ISSN: 0902-4441 [Print] England
PMID14962267 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Hemoglobins, Abnormal
  • hemoglobin Sabine
Topics
  • Base Sequence
  • Brain (pathology)
  • Hemoglobins, Abnormal (genetics)
  • Hemoglobinuria (complications)
  • Humans
  • Infant
  • Intracranial Thrombosis (diagnosis, etiology)
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: