Sickle Cell Disease and Venous Thromboembolism

Rahimi, Zohreh; Parsian, Abbas

doi:10.4084/mjhid.2011.024

Cited by 23 publications

(22 citation statements)

References 78 publications

(84 reference statements)

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“…This coagulation is brought about by activated protein C resistance, 90–95% cases of which are accounted by heterozygosity for factor V Leiden mutation. Both these events may lead to thrombo‐occlusive complications among patients with SCD . As thrombosis plays significant role in pathophysiology of SCD clinical manifestations, patients with SCD in the present study having mutant variants of FVL and MTHFR genes have shown significant prevalence of fatigue, fever, pain in chest, abdomen, bone joints along with early onset of clinical manifestations making these patients frequent dependent on blood transfusion to relieve painful crises.…”

Section: Discussionmentioning

confidence: 69%

Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India

Nishank

Singh

Yadav

2013

European J of Haematology

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Section: Discussionmentioning

confidence: 69%

Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India

Nishank

Singh

Yadav

2013

European J of Haematology

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“…Sickle cell disease (SCD) results from the homozygous state of the mutation, or a compound heterozygous state with one of structural variants of Hb D-Punjab, Hb O-Arab, Hb C, or β -thalassemia mutation in the other β -genes [16, 17]. …”

Section: Structural Variantsmentioning

confidence: 99%

Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

Rahimi

2013

BioMed Research International

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There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with −α 3.7 kb as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

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“…[2] Many another factors also have been reported to contribute to the hypercoagulable state of patients with SCA such as hyperfibrinogenemia, increased concentration of von Will brand factor and decreased plasma levels of protein C, protein S, and antithrombin III, increased prothrombin fragment, thrombin-antithrombin complexes, plasma fibrinogen products, D-dimer, and decreased coagulation factor V.[16]…”

Section: Discussionmentioning

confidence: 99%

Angiotensin-converting enzyme insertion/deletion polymorphism is not associated with vasoocclusive complications of sickle cell anemia

Mahjoub

Abdelrhman

El-Deen

et al. 2016

Int J App Basic Med Res

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Context:Sickle cell anemia (SCA) is a group of hemoglobin disorders in which the sickle β-globin gene is inherited. It is associated with many complications; most of them are related to thrombotic events.Aim:This study aimed to investigate the association between angiotensin converting enzyme (ACE) insertion/deletion polymorphism and complications of SCA.Settings and Design:A case–control study was conducted in Khartoum state.Subjects and Methods:A total of 50 patients with SCA and 40 healthy volunteers as a control group were enrolled in this study. Three milliliters of ethylenediamine tetraacetic acid anticoagulated blood were collected from each subject, DNA was extracted by salting-out method, and target DNA regions of the ACE gene were amplified using allele-specific polymerase chain reaction.Statistical Analysis Used:Data of this study was analyzed by Statistical Package for Social Sciences. Frequency of qualitative variables was calculated, and correlation was tested by Chi-square test. Regression was used to investigate the association between the polymorphism and complications of SCA.Results:The frequencies of the DD, ID, and II genotypes were 42%, 50%, and 8%, respectively, for patients, whereas in the control group, it was 80% for DD genotype and 20% for ID, while II genotype was totally absent. The regression analysis showed no statistically significant association between the disease complications and each of the ACE polymorphic genotypes.Conclusion:No statistically significant association was found between ACE polymorphism and complications of SCA.

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Sickle Cell Disease and Venous Thromboembolism

Cited by 23 publications

References 78 publications

Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India

Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India

Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

Angiotensin-converting enzyme insertion/deletion polymorphism is not associated with vasoocclusive complications of sickle cell anemia

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