| Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients. | |
| | |
MedLine Citation:
|
PMID: 17008978 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
BACKGROUND: The role of genetic thrombophilia in the development of both micro and macro vascular complications in patients with hemoglobinopathies (Sickle cell disease and thalassemia) have been investigated with some studies negating its role while others suggesting it. Lebanon is known to harbor sickle cell disease, thalassemia and sickle beta-thalassemia hemoglobinopathy patients along with a documented high prevalence of genetic thrombophilia mutations. METHODS: Twelve sickle beta-0-thalassemia patients with no pervious history of thrombotic events were selected. These patients underwent a physical examination with history, echo Doppler, along with blood withdrawal for complete blood count and PCR analysis of a sample of DNA for Factor V Leiden G1691A, Factor II G20210A, and MTHFR C677T. Results were compared to a historical control of 50 Lebanese controls and 50 LebaneseThalassemia Intermedia (TI) patients. RESULTS: The results showed that 42%, 59%, and 8% of patients carried heterozygous Factor V Leiden, abnormal (homozygous & heterozygous) MTHFR, and heterozygous Factor II mutations respectively. The sickle-thalassemia patients were 5.24 and 4.39 times more likely to have Factor V Leiden as compared to the normal controls and TI patients respectively (p < 0.05). DISCUSSION: The increased prevalence of more than one prothrombotic genetic mutation among the group indicates a probable clustering phenomenon, unknown to us to which the high consanguinity rate (77%) may have contributed. The role of the specific MTHFR and Factor V Leiden double heterozygous combination in incidence, recurrence, and guidance of duration of therapy in VTE is not well defined in the literature despite the recognized higher risk of thrombosis among this patient population. Our findings suggest that genetic thrombophilia workup is necessary in patients with sickle-beta zero thalassemia presenting with thrombotic events and studies that include a larger number of patients are necessary in order to define specific guidelines. |
| | |
Authors:
|
Hussain Isma'eel; M S Arnaout; Wael Shamseddeen; R Mahfouz; N Zeineh; Oussama Jradi; Ali Taher |
Related Documents
:
|
19850588 - Mechanical methods for thrombosis prophylaxis. 15789178 - Pulmonary embolism in medical patients: improved diagnosis and the role of low-molecula... 15583448 - Acquired and inherited thrombophilic factors and the risk for residual venous thrombosis. 3786738 - Erectile dysfunction caused by venous leakage: treatment with detachable balloons and c... 10759618 - Clinical and fiscal impact of lansoprazole intolerance in veterans with gastro-oesophag... 18686678 - Prevalence of malocclusions in a young brazilian population. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Journal of thrombosis and thrombolysis Volume: 22 ISSN: 0929-5305 ISO Abbreviation: J. Thromb. Thrombolysis Publication Date: 2006 Oct |
Date Detail:
|
Created Date: 2006-09-29 Completed Date: 2006-12-21 Revised Date: 2009-11-19 |
Medline Journal Info:
|
Nlm Unique ID: 9502018 Medline TA: J Thromb Thrombolysis Country: Netherlands |
Other Details:
|
Languages: eng Pagination: 121-3 Citation Subset: IM |
Affiliation:
|
American University of Beirut Medical Center. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Anemia, Sickle Cell / blood, complications*, genetics Case-Control Studies Child Consanguinity DNA Mutational Analysis Echocardiography, Doppler Factor V / genetics Female Genetic Testing* Humans Lebanon / epidemiology Male Methylenetetrahydrofolate Reductase (NADPH2) / genetics Polymorphism, Genetic Prothrombin / genetics Thrombophilia / complications, genetics* beta-Thalassemia / blood, complications*, genetics |
| Chemical | |
Reg. No./Substance:
|
0/factor V Leiden; 9001-24-5/Factor V; 9001-26-7/Prothrombin; EC 1.5.1.20/Methylenetetrahydrofolate Reductase (NADPH2) |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Oral anticoagulant treatment: risk factors involved in 500 intracranial hemorrhages.
Next Document: Temporal and venepuncture-related decline in circulating endothelial cell capture from mixed venous ...