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Article
Inherited thrombophilia: Diagnostic approach

Authors: Rahem Mahdy Rahem --- Rehab Abdul Sahb Al‑Waeli
Journal: Iraq Joural of Hematology المجلة العراقية لامراض الدم ISSN: 20728069/25432702 Year: 2017 Volume: 6 Issue: 2 Pages: 31-37
Publisher: Al-Mustansyriah University الجامعة المستنصرية

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Abstract

Hemostatic abnormalities include both bleeding and thrombosis disorders. Adherence to mostcommon guidelines for the diagnosis of thrombophilia is recommended especially in some developingcountries. High level of orientation to thrombophilic disorders needs wide spectrum of knowledgeabout the causes, primary or secondary, investigations to most common risk factors, selectingcandidates to investigations, in addition to covering the possibility of multifactorial background ofdisease. Limited data are available that focus on the thrombophilic disorders with imperfect diagnosticcooperation between clinical and laboratory aspects to reach the full picture of these hemostaticabnormalities. In this short review of literature, we considered the most important publications thatassessed the inherited thrombophilia at levels of presentation, diagnosis, and management withfocus on the practical side. The aim of this review is to summarize the most important aspects ofthe thrombophilia presentation, inherited causes, indications for testing, and investigations requiredfor thrombophilic patients


Article
Treatment of hyperhomocysteinemia and pregnancy outcome in patients with recurrent miscarriage

Author: Esraa H. Humadi
Journal: Mustansiriya Medical Journal مجلة المستنصرية الطبية ISSN: 20701128 22274081 Year: 2016 Volume: 15 Issue: 2 Pages: 9-13
Publisher: Al-Mustansyriah University الجامعة المستنصرية

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Abstract

Background; Developmental dysplasia of the hip (DDH) means femoral head subluxation or dislocation and/or acetabular dysplasia. Management of neglected (DDH) in children after the walking age is challenging to the Back ground: During pregnancy hyperhomocysteinemia, can cause damage to the vascular system that support the placental function , and this damage might lead to miscarriage and other adverse pregnancy outcome. Objective: To investigate whether lowering homocysteine level in women with recurrent pregnancy loss and hyperhomocysteinemia can improve pregnancy outcome Patients and Method; this study ,initially include 80 women with history of three or more consecutive miscarriage between 8-20 weeks gestation Those with homocystein level >12μmol/l were include in this study (65women) ,they received folic acid 5mg per oral daily ,vitamin B6 40 mg per oral daily , vitamin B12 1000 μg per oral daily for two 2-3 months . After normalization of homocysteine 55 women completed the treatment course and same treatment was continued during pregnancy, 48 women get pregnancy and involved in this study .All participants were followed during pregnancy for any complications that might develop. Result: out of 80 women 48 women participated in this study, their age ranged from 18-42 years.Pregnancy outcome (alive birth) was significantly improved after normalization of homocysteine level and P value is 0.001. Despite that high incidence of complications still developed the most significantly frequent complications include : 16 patients delivered small for gestational age , 14 pregnancies complicated by pregnancy induced hypertension and preeclampsia, ,8 pregnancies ended with preterm labor ,placental abruption complicated around 6 pregnancies and no congenital abnormality neither still birth were reported in this study. Conclusion: Lowering homocysteine level would significantly improve pregnancy outcome (alive birth ) in women with recurrent pregnancy loss.


Article
The Factor VIII:C plasma activity level in females with primary unexplained infertility and recurrent miscarriage

Authors: Bassam M. Hameed --- Haithem A. Al-Rubaie --- Hind S. Al-Mammury
Journal: Iraqi Journal of Embryos and Infertility Researches المجلة العراقية لبحوث الأجنة والعقم ISSN: eISSN: 26166984 / pISSN: 22180265 Year: 2015 Volume: 5 Issue: 1 Pages: 1-8
Publisher: Al-Nahrain University جامعة النهرين

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Abstract

Background: Recurrent miscarriage and infertility are intriguing problems with growing clinical concern.Among the causes of thrombophilia; elevated plasma VIII:C activity level emerges with a rising concern as a possible risk factor of repeated miscarriage and subsequent infertility.Factor VIII is activated in the intrinsic pathway of coagulation cascade of secondary hemostasis. Objective: To evaluate plasma VIII: C activity level in females with repeated miscarriage and primary unexplained infertility in order to determine if Factor VIII:C over-activity is a probable cause of such conditions. Patients, Materials and Methods: This study was performed on strictly selected90 females, aged 20-45 year. The females wereassignedinto three groups (34 females with unexplained primary infertility, 41 females with history of repeated miscarriage(after exclusion of other gynecological and obstetrical causes) and 15 healthy age-matched females were selected as a control group. Plasma VIII:C functional activity was assayed.Blood samples for general hematological studies (Packed cell volume PCV, Prothrombin time PT, and activated partial thromboplastin time APTT) were obtained manually for all included females. C-reactive protein assayed in all samples to exclude the inflammatory causes of elevated factor VIII, which is regarded as an acute phase protein. Results: Factor VIII data were expressed as a mean of percentage of activity (±SD). A significant (*p=0.009) higher plasma activity level of factor VIII:C was demonstrated in infertile females(111.29%±31.66) and females with recurrent abortions (118.63%±39.54); Compared with the healthy control females (80.23%± 22.23), PCV, PT and PTT measurements demonstrated no statistical significance in infertile and recurrent abortion groups when compared to the control group (p>0.05). There was no statistically significant difference between the three groups regarding the PCV, PT and PTT measurement. Conclusions:Plasma Factor VIII:C activity level was higher in females with unexplained primary infertility and those with history of recurrent abortion. This elevation suggested of being independent risk factor of such conditions; after exclusion of other multiple causes leading to thrombophilia, abortion and infertility.


Article
Association of factor V Leiden mutation with retinal vein thrombosis in a set of Iraqi patients

Authors: Rehab Abdul Sahb Al‑Waeli --- Rahem Mahdy Rahem
Journal: Iraq Joural of Hematology المجلة العراقية لامراض الدم ISSN: 20728069/25432702 Year: 2016 Volume: 5 Issue: 2 Pages: 157-160
Publisher: Al-Mustansyriah University الجامعة المستنصرية

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Abstract

Abstract:BACKGROUND: Retinal vein occlusion is the most common retinal vascular disorder after diabetic retinopathywith several ocular and systemic disorders associated with retinal veins thrombosis. Factor V Leiden (FVL)mutation as part of inherited thrombophilia may associated with retinal vein thrombosis.OBJECTIVES: Determine the presence of FVL mutation in a set of Iraqi patients with retinal vein thrombosisand evaluate its role in the etiology of thrombosis in those patients.PATIENTS, MATERIALS AND METHODS: A case–control study conducted for 6 months, a total number of69 patients who were diagnosed with retinal vein thrombosis while attending ophthalmology outpatient clinic inDiwania city in Iraq. Only sixty patients were eligible for the study. From each patient, venous blood was withdrawnfor complete blood count, blood film, erythrocyte sedimentation rate, kaolin clotting time, anticardiolipin antibodies,antinuclear antibody, thyroid‑stimulating hormone, renal function test, random blood sugar, and serum cholesterolin addition to determine the presence of FVL mutation by polymerase chain reaction (PCR)‑restriction fragmentlength polymorphism. For 84 individuals of control group, only the presence of FVL mutation by PCR was done.RESULTS: Sixty out of 69 patients with retinal vein thrombosis were eligible for the study. There were a total of34 males and 26 females with a mean age of 49.1 ± 2.03 years with no significant statistical differences in meanage and sex between the patients and the control groups. The proportion of patients with FVL mutation washigher than that of control subjects, 21.7% versus 8.3% (P = 0.023). FVL mutation in patients group showing asignificant risk factor to develop retinal vein thrombosis than control group (odd ratio: 3.043).CONCLUSIONS: FVL plays a role in etiology of retinal vein thrombosis and measurement of this mutation withproper prophylaxis may be useful in prevention of venous thrombosis.


Article
THROMBOPHILIC MUTATIONS IN BLOOD DONORS IN DUHOKIRAQ
الطفرات الوراثية لفرط التخثر في متبرعي الدم في دهوك - العراق

Authors: GEORGE S. GEDEON جورج جيديون --- NAWRAS K. BABAN نورس كابان --- JALADET M.S. JUBRAEL جلادت محمدصالح جبرائيل --- NASIR A.S. AL-ALLAWI نصير علاوي
Journal: Duhok Medical Journal مجلة دهوك الطبية ISSN: ISSN: 20717334 (online)/ ISSN: 20717326 (Print) Year: 2009 Volume: 3 Issue: 1 Pages: 25-32
Publisher: University of Dohuk جامعة دهوك

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Abstract

Background Thrombophilia is a multifactorial disease due to the interplay between acquired and inherited factors. Factor V Leiden (G1691A), Prothrombin (G20210A) and MTHFR (C677T) are among the important inherited causes. The prevalence of these three thrombophilic mutations has not been addressed collectively in Iraqis, including the population of Duhok. Objectives Determine the prevalence of thrombophilic mutations among healthy blood donors from Duhok. Materials and Methods One hundred and fifty random healthy blood donors from the regional blood bank in Duhok-Iraq were investigated using multiplex PCR and reverse hybridization to oligonucleotide specific probes to detect Factor V leiden and MTHFR C677T mutations. While the first hundred donors were also screened using the same technology for Prothrombin G20210A mutation. Results Factor V Leiden and Prothrombin G20210A carrier states were found in 1.25% and 3% of the individuals screened for them, respectively. The MTHFR C677T homozygous and heterozygous states were confirmed in 8 and 44% respectively. Conclusions This study demonstrated that while the prevalence of Prothrombin and MTHFR mutations were rather consistent with pattern seen in surrounding countries in the Mediterranean region, Factor V Leiden prevalence was the least ever reported from any other population in the region. The latter finding suggests that the contribution of Factor V leiden to thrombotic states in Northern Iraq may not be as significant as it is in other countries in the region.

الخلفية: أن فرط التخثر هو حالة مرضية متعددة الأسباب ناتجة عن تداخل العوامل المكتسبة و الوراثية. و يعد العامل الخامس لايدن و البروثرمبين G20210A و MTHFR C677T من العوامل الوراثية المهمة. أن درجة أنتشار هذه العوامل مجتمعة لم يتم دراستها مسبقا" في العراقيين و من ضمنهم سكان دهوك.الاهداف: تحديد نسبة أنتشار موروثات فرط التخثر في متبرعي الدم الأصحاء في دهوك.مواد و طرق البحث: تم شمول عينة عشوائية من مائة و خمسون متبرعا" من الأصحاء من مصرف الدم الرئيسي في دهوك-العراق. و قد تم فحص الدنا بطريقة التفاعل التضاعفي لتحديد وجود الطفرات الوراثية المسيية للعامل الخامس لايدن و لل MTHFR C677T . بينما تم فحص المائة عينة الأولى بنفس التقنية للطفرة الوراثية المسببة للبروثرمبين G20210A.النتائج: وجد أن 51.2% و 3% من المتبرعين المشمولين هم حاملين لصفتي العامل الخامس لايدن و البروثرمبين و بالتتابع. بينما و جد أن 8% و 44% من المتبرعين كانوا حاملين لصفة MTHFR C677T بحالة متشابهة و مختلفة الزيجة بالتتابع. الاستنتاجات: وجد ان نسبة أنتشار طفرات البروثرمبين وMTHFR تشابه مثيلاتها في الدول المجاورة في منطقة شرق المتوسط.، بينما وجد ان نسبة أنتشار العامل الخامس لايدن أقل من أي مجموعة سكانية مجاورة. أن هذه الملاحظة الاخيرة توحي بأن أهمية أسهام هذه الطفرة في حالات تخثر الأوردة في شمال العراق، قد لايكون بأهميته في بقية دول المنطقة.


Article
Factor V Leiden Mutation in Iraqi Patients with Deep Venous Thrombosis.
طفرة العامل V لايدن في المرضى العراقيين مع تجلط وريدي عميق

Authors: Nasir Al-Allawi نصير العلاوي --- Jaladet MS Jubrael --- Ferial A.Hilmi فريال حلمي
Journal: Journal of the Faculty of Medicine مجلة كلية الطب ISSN: 00419419 / 24108057 Year: 2011 Volume: 53 Issue: 3 Pages: 293-295
Publisher: Baghdad University جامعة بغداد

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Abstract

Background: Factor V Leiden is considered the most common inherited risk factor for venous thrombosis in Caucasian populations, including those in the Eastern Mediterranean region. While several studies have addressed Factor V Leiden prevalence in patients with venous thrombosis in the Eastern Mediterranean countries, none have been reported from Iraq. Objective: To study the prevalence of Factor V Leiden in an unselected group of Iraqi patients with Deep Venous thrombosis.Materials and Methods: A total of 50 unselected patients with deep venous thrombosis referred to the Medical City Teaching Hospital in Baghdad, Iraq, as well as 40 age and sex matched controls, were enrolled. The evaluation included in addition to detailed history, Factor V Leiden by polymerase Chain reaction and reverse hybridization. Results: Factor V Leiden mutation was documented in 8 patients (16%), compared to 1 control (2.5%) (Odds Ratio 7.4; p= 0.0397). The mutation was more frequent among younger patients, those with family history of thrombosis and those with recurrent thrombosis, but only the latter was of significance.Conclusions: The study suggests that Factor V Leiden is frequently encountered in Iraqi patients with Deep venous thrombosis from Baghdad, but less so than in some surrounding Eastern Mediterranean countries. Although further larger studies maybe warranted, the current study favors screening for Factor V Leiden in the workup of newly diagnosed venous thrombosis cases in this city.

خلفية: يعتبر العامل V لايدن الأكثر شيوعا عامل خطر موروث للتخثر وريدي في شعوب القوقاز، بما في ذلك تلك الموجودة في منطقة شرق البحر الأبيض المتوسط. في حين أن دراسات عدة تناولت انتشار عامل لايدن الخامس في المرضى الذين يعانون من تخثر وريدي في بلدان شرق البحر الأبيض المتوسط، تم الإبلاغ عن أي من العراق. الهدف: دراسة مدى انتشار العامل الخامس لايدن في مجموعة غير محددة من المرضى العراقيين مع بتجلط وريدي عميق. تم تسجيل ما مجموعه 50 مريضا غير محددة مع تخثر وريدي عميق أشار إلى مستشفى المدينة الطبية في بغداد التعليمي، والعراق، فضلا عن سن 40 وضوابط ممارسة الجنس المتطابقة،: مواد وطرق. وشملت عملية التقييم، بالإضافة إلى التاريخ المفصل، العامل الخامس لايدن بواسطة تفاعل البلمرة المتسلسل والتهجين العكسي. النتائج: وقد تم توثيق عامل طفرة ليدن الخامس في 8 المرضى (16٪)، مقارنة مع 1 سيطرة (2.5٪) (نسبة الأرجحية 7.4، P = 0.0397). وكانت الطفرة أكثر شيوعا بين المرضى الأصغر سنا، الذين لديهم تاريخ عائلي للتخثر والذين يعانون من تخثر المتكررة، ولكن فقط كان هذا الأخير من أهمية. استنتاجات: وتشير الدراسة إلى أن واجه كثير من الأحيان العامل الخامس لايدن في المرضى العراقيين مع بتجلط وريدي عميق من بغداد، ولكن بدرجة أقل مما كان عليه في بعض بلدان البحر الأبيض المتوسط ​​الشرقية المحيطة بها. على الرغم من أن دراسات أكبر مزيد من مبرر ربما، الدراسة الحالية تؤيد الكشف عن العامل الخامس لايدن في workup من الحالات تم تشخيصها حديثا الخثار الوريدي في هذه المدينة.

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