<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03273998</url>
  </required_header>
  <id_info>
    <org_study_id>Coag Def</org_study_id>
    <nct_id>NCT03273998</nct_id>
  </id_info>
  <brief_title>Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Assiut University Children Hospital</brief_title>
  <acronym>coagdef</acronym>
  <official_title>Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Assiut University</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Assiut University</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Blood coagulation is a complex mechanism that is required for the rapid establishment of a&#xD;
      stable fibrin clot. A series of interdependent enzyme-mediated reactions translate the&#xD;
      molecular signals that initiate blood coagulation into the formation of the fibrin clot.&#xD;
      Congenital coagulopathies result when there is a deficiency of protein co factors and enzymes&#xD;
      implicated in blood coagulation&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The most frequent inherited coagulation disorders are haemophilia A and B, due to the&#xD;
      deﬁciency of factor VIII and IX. Haemophilia A and B are clinically indistinguishable from&#xD;
      each other and occur in mild, moderate and severe forms (with plasma factor levels of 6-30%,&#xD;
      2-5% and 1% or less respectively). Inherited as X-linked traits, haemophilia A and B are&#xD;
      prevalent in the general population of approximately 1 in 10 000 and 1 in 50 000, with no&#xD;
      signiﬁcant racial difference. Other deﬁciencies of coagulation factors that cause a bleeding&#xD;
      disorder, such as aﬁbrinogenaemia, hypoprothrombinaemia, deﬁciencies of factors V and&#xD;
      combined factor V and VIII, VII, X, XI and XIII are inherited as autosomal recessive traits&#xD;
      and are generally much rarer than the haemophilias, wich are prevalent in the general&#xD;
      population varying between 1 in 500 000 and 1 in 2 000 000. As a consequence of the rarity of&#xD;
      these deﬁciencies, which are expressed clinically only in homozygotes or compound&#xD;
      heterozygotes, the type and severity of symptoms, the underlying molecular defects and the&#xD;
      actual management of bleeding episodes are not well established as for haemophilia A and B.&#xD;
&#xD;
      Inherited deficiencies are described for all of the known coagulation factors. In addition,&#xD;
      there are people with an abnormal bleeding tendency for whom no cause has yet been&#xD;
      identified. The concept of overall hemostatic balance is increasingly recognized, that it is&#xD;
      not solely the level of a single factor that matters, but the overall control of hemostasis&#xD;
      that may determine the bleeding risk. This may explain why the bleeding risk cannot be&#xD;
      predicted from a single factor level alone as in, for example, factor VII or factor XI&#xD;
      deficiency in particular. The rare factor deficiencies have several common properties: they&#xD;
      are inherited in an autosomal manner, although bleeding symptoms have been described in&#xD;
      heterozygous partially deficient individuals. These rare deficiencies are more common in&#xD;
      populations and countries where cousin marriages are frequent and therefore there is&#xD;
      considerable geographic variation in the incidence, in contrast to hemophilia and von&#xD;
      Willebrand disease types I or II which occur with the same incidence in different countries.&#xD;
&#xD;
      Clinical manifestations:&#xD;
&#xD;
      In their most severe form, the deficiencies present with serious hemorrhage in the neonatal&#xD;
      period; intracranial hemorrhage is a significant presentation of severe deficiency of FXIII,&#xD;
      factor VII, factor X or fibrinogen (afibrinogenaemia). Bleeding from the umbilical stump can&#xD;
      occur with any of these disorders as it can with severe hemophilia. It is important for&#xD;
      caregivers to be aware that any unusual bleeding manifestation must prompt appropriate&#xD;
      investigation so that diagnosis is not delayed, and appropriate replacement therapy is given&#xD;
      as soon as possible. A history of consanguinity of the parents and their ethnic origin are&#xD;
      relevant.&#xD;
&#xD;
      Diagnosis should be straightforward but there are pitfalls in testing. Difficult&#xD;
      venepunctures in infants in an emergency may give erroneous results due to tissue factor&#xD;
      contamination. Coagulation samples do not travel well, so if plasma samples are sent to&#xD;
      another laboratory they must be properly transported, generally frozen and sent on dry ice.&#xD;
      It may be helpful to test both parents because, apart from the two truly recessive disorders&#xD;
      detailed below, the parents will usually have evidence of partial deficiency. It is important&#xD;
      for each laboratory to establish its own normal range, and to ensure that the possibility of&#xD;
      genetic carriage of a disorder is fully discussed with parents irrespective of the blood&#xD;
      results as the birth of more children with a serious bleeding disorder is a great emotional&#xD;
      and social burden especially in countries and communities with poor health resources.&#xD;
&#xD;
      Fibrinogen deficiency&#xD;
&#xD;
      Fibrinogen deficiency is heterogeneous and two main phenotypes can be distinguished. In&#xD;
      afibrinogenaemia, plasma and platelet levels of the protein are unmeasurable or very low when&#xD;
      using assays that measure clottable and immunoreactive protein, whereas in dysfibrinogenaemia&#xD;
      low clottable fibrinogen contrasts with normal or moderately reduced fibrinogen antigen.&#xD;
&#xD;
      Clinical manifestations:&#xD;
&#xD;
      Whereas most patients with dysfibrinogenaemia do not bleed at all, afibrinogenaemic patients&#xD;
      have a bleeding tendency.&#xD;
&#xD;
      Among severe bleeding symptoms that are dangerous for life and for the musculoskeletal&#xD;
      function, umbilical cord and joint bleeding is relatively frequent (in 75% and 50% of&#xD;
      patients), whereas muscle hematomas and bleeding in the gastrointestinal tract and central&#xD;
      nervous system are less common.&#xD;
&#xD;
      Milder symptoms such as epistaxis and menorrhagia are also frequent. Post-partum bleeding&#xD;
      occurs when no prophylactic replacement therapy is given. Excessive blood loss and impaired&#xD;
      wound healing in about one-third of the patients often accompany circumcision and other&#xD;
      surgical maneuvers. There is no increased prevalence of recurrent miscarriages. Central&#xD;
      nervous system bleeding is rare.&#xD;
&#xD;
      Factor V deficiency Congenital factor V deficiency (also known as labile factor or&#xD;
      proaccelerin) is a rather uncommon [1:1000,000] inherited coagulopathy (autosomal recessive&#xD;
      inheritance).&#xD;
&#xD;
      Affected patients become symptomatic in early childhood with spontaneous or post- traumatic&#xD;
      bleeding complications&#xD;
&#xD;
      Factor VII deficiency&#xD;
&#xD;
      Factor VII deficiency is the most common autosomal recessive coagulation disorder (1 per 500&#xD;
      000 population). Factor VII circulates in plasma at a concentration of approximately 0.5&#xD;
      μg/mL (10 mmol/L). Plasma levels of factor VII coagulant activity (FVII:C) and FVII antigen&#xD;
      (FVII: Ag) are influenced by a number of genetic and environmental factors (sex, age,&#xD;
      cholesterol and triglyceride levels). The majority of patients have concomitantly low levels&#xD;
      of factor VII functional activity and antigen, but several cases are characterized by normal&#xD;
      or low borderline levels of factor VII antigen, contrasting with lower levels of functional&#xD;
      activity. Most gene knockout mice made experimentally deficient in factor VII develop&#xD;
      normally but some suffer fatal perinatal bleeding.&#xD;
&#xD;
      Clinical manifestations:&#xD;
&#xD;
      The severity of symptoms of factor VII deficiency is variable and generally reported to be&#xD;
      poorly correlated with plasma levels. Some patients do not bleed at all after major&#xD;
      challenges of haemostasis, and even cases of thrombosis have been described. life- or&#xD;
      limb-endangering bleeding manifestations are relatively rare, the most frequent symptoms&#xD;
      being epistaxis and menorrhagia. However, the prevalence of haemarthroses and soft-tissue&#xD;
      bleeding was less than that found in other large series. The risk of central nervous system&#xD;
      bleeding in infants with severe factor VII deficiency is high in some series.&#xD;
&#xD;
      Factor VIII &amp; factor IX deficiency:&#xD;
&#xD;
      The hemophilias are X-linked congenital bleeding disorders, and the two major categories are&#xD;
      hemophilia A (factor VIII deficiency, seen in 1 in 5,000 male births) and hemophilia B&#xD;
      (factor IX deficiency, seen 1 in 30,000 male births) Prophylaxis for children with severe&#xD;
      hemophilia consists of infusion of a factor concentrate two or three times a week in order to&#xD;
      keep blood levels of factor VIII or IX high enough to prevent bleeding. On-demand therapy&#xD;
      involves infusion of a factor concentrate immediately after bleeding starts in an effort to&#xD;
      prevent joint or muscle damage&#xD;
&#xD;
      Factor XI deficiency Factor XI deficiency is characterized by a decrease of the functional&#xD;
      activity of this plasma protein, usually accompanied by correspondingly low levels of factor&#xD;
      XI antigen. Most of cases reported in the literature are of Ashkenazi Jewish origin, the&#xD;
      frequency of heterozygosity for factor XI deficiency being as high as 8% in this population.&#xD;
      In knockout mice, the loss of the gene coding for this factor is compatible with life, with&#xD;
      no tendency for spontaneous bleeding.&#xD;
&#xD;
      Clinical manifestations:&#xD;
&#xD;
      The relationship between the residual factor XI levels in plasma and the bleeding tendency is&#xD;
      not as clear-cut as for other coagulation factor deficiencies. Usually, patients with severe&#xD;
      factor XI deficiency (1% or less) are mildly affected and have bleeding symptoms only after&#xD;
      trauma or surgery. Surprisingly patients with low but detectable levels of factor XI are also&#xD;
      mild bleeders, severe or moderate deficiency (factor XI &lt; 1-5%) and in patients with mild&#xD;
      deficiency (6-30%). All patients were mild bleeders, but those symptoms that define the&#xD;
      severity of the bleeding tendency, such as muscle hematomas and hemarthroses, showed a&#xD;
      similar frequency in the two groups of deficient patients (approximately 25%). The most&#xD;
      frequent symptoms were oral and post-operative bleeding, which occurred in more than 50% of&#xD;
      patients.&#xD;
&#xD;
      Differential diagnosis :&#xD;
&#xD;
      Causes of congenital bleeding disorders&#xD;
&#xD;
      The most common include:&#xD;
&#xD;
      Von Willebrand Disease Hemophilia A (Factor Viii Deficiency) Hemophilia B(Factor Ix&#xD;
      Deficiency)&#xD;
&#xD;
      Less Common :&#xD;
&#xD;
      Factor 1(Fibrinogen Deficiency) Factor II (Prothrombin Deficiency or Dysfunction) Factor V&#xD;
      Deficiency Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor XIII&#xD;
      Deficiency Platelet Disorders Congenital Aplastic Anemia&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Not yet recruiting</last_known_status>
  <start_date type="Anticipated">April 1, 2018</start_date>
  <completion_date type="Anticipated">April 1, 2019</completion_date>
  <primary_completion_date type="Anticipated">April 1, 2019</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Case-Only</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>prevalence of children with coagulation factors deficiency in Assiut University Children Hospital measured by coagulation factor deficiency checklist</measure>
    <time_frame>1year</time_frame>
    <description>data collected in sheet measuring type and level of deficient factor and measuring clotting tests(e.g. pt ,aptt)</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>evaluation of inheritance of coagulation fa tors deficiency through the checklist measuring other affected family members</measure>
    <time_frame>1year</time_frame>
    <description>number of family members having coag factors deficiency , their age ,sex</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>evaluation of infectious disease by measuring hepatitis c virus and human immunodeficiency virus</measure>
    <time_frame>one year</time_frame>
    <description>hepatitis c virus and human immunodeficiency virus testing</description>
  </secondary_outcome>
  <enrollment type="Anticipated">50</enrollment>
  <condition>Coagulation Factor Deficiency</condition>
  <eligibility>
    <study_pop>
      <textblock>
        children with coagulation factors deficiency in Assiut University Children Hospital&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  All patients with congenital bleeding disorders secondary to coagulation factor&#xD;
             deficiency and attending in Assiut University Children Hospital will be included in&#xD;
             the study&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients with:&#xD;
&#xD;
        Acquired bleeding disorders Thrombasthenia thrombocytopenia&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>18 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>yomna alattar, resident</last_name>
    <role>Principal Investigator</role>
    <affiliation>Assiut University</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Khalid Ibrahim El-Sayeh, Professor</last_name>
    <phone>01005484357</phone>
    <email>elsayh23@yahoo.com</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Mohamed Amir Othman, Ass prof</last_name>
    <phone>01005689353</phone>
    <email>m_amir_riad@aun.edu.eg</email>
  </overall_contact_backup>
  <results_reference>
    <citation>Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood. 2004 Sep 1;104(5):1243-52. doi: 10.1182/blood-2004-02-0595. Epub 2004 May 11.</citation>
    <PMID>15138162</PMID>
  </results_reference>
  <results_reference>
    <citation>Bolton-Maggs PH. The rare inherited coagulation disorders. Pediatr Blood Cancer. 2013;60 Suppl 1:S37-40. doi: 10.1002/pbc.24336. Epub 2012 Oct 25.</citation>
    <PMID>23109366</PMID>
  </results_reference>
  <results_reference>
    <citation>Peyvandi F, Mannucci PM. Rare coagulation disorders. Thromb Haemost. 1999 Oct;82(4):1207-14.</citation>
    <PMID>10544899</PMID>
  </results_reference>
  <results_reference>
    <citation>Ehrenforth S, Klarmann D, Zabel B, Scharrer I, Kreuz W. Severe factor V deficiency presenting as subdural haematoma in the newborn. Eur J Pediatr. 1998 Dec;157(12):1032. doi: 10.1007/s004310050993. No abstract available.</citation>
    <PMID>9877047</PMID>
  </results_reference>
  <results_reference>
    <citation>Kulkarni R, Soucie JM. Pediatric hemophilia: a review. Semin Thromb Hemost. 2011 Oct;37(7):737-44. doi: 10.1055/s-0031-1297164. Epub 2011 Dec 20.</citation>
    <PMID>22187396</PMID>
  </results_reference>
  <results_reference>
    <citation>von der Lippe C, Frich JC, Harris A, Solbraekke KN. Treatment of hemophilia: A qualitative study of mothers' perspectives. Pediatr Blood Cancer. 2017 Jan;64(1):121-127. doi: 10.1002/pbc.26167. Epub 2016 Jul 29.</citation>
    <PMID>27472376</PMID>
  </results_reference>
  <results_reference>
    <citation>KENDALL AG, LOWENSTEIN L. Alterations in blood coagulation and hemostasis during extracorporeal circulation. II. Can Med Assoc J. 1962 Oct 20;87(16):859-64. No abstract available.</citation>
    <PMID>14031889</PMID>
  </results_reference>
  <verification_date>September 2017</verification_date>
  <study_first_submitted>August 29, 2017</study_first_submitted>
  <study_first_submitted_qc>September 3, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">September 6, 2017</study_first_posted>
  <last_update_submitted>September 9, 2017</last_update_submitted>
  <last_update_submitted_qc>September 9, 2017</last_update_submitted_qc>
  <last_update_posted type="Actual">September 12, 2017</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Assiut University</investigator_affiliation>
    <investigator_full_name>YHAlattar</investigator_full_name>
    <investigator_title>principle investigator</investigator_title>
  </responsible_party>
  <keyword>coagulation</keyword>
  <keyword>bleeding</keyword>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03273998
org study id: Coag Def
nct id: NCT03273998
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Blood coagulation is a complex mechanism that is required for the rapid establishment of a
      stable fibrin clot. A series of interdependent enzyme-mediated reactions translate the
      molecular signals that initiate blood coagulation into the formation of the fibrin clot.
      Congenital coagulopathies result when there is a deficiency of protein co factors and enzymes
      implicated in blood coagulation
The most frequent inherited coagulation disorders are haemophilia A and B, due to the
      deﬁciency of factor VIII and IX. Haemophilia A and B are clinically indistinguishable from
      each other and occur in mild, moderate and severe forms (with plasma factor levels of 6-30%,
      2-5% and 1% or less respectively). Inherited as X-linked traits, haemophilia A and B are
      prevalent in the general population of approximately 1 in 10 000 and 1 in 50 000, with no
      signiﬁcant racial difference. Other deﬁciencies of coagulation factors that cause a bleeding
      disorder, such as aﬁbrinogenaemia, hypoprothrombinaemia, deﬁciencies of factors V and
      combined factor V and VIII, VII, X, XI and XIII are inherited as autosomal recessive traits
      and are generally much rarer than the haemophilias, wich are prevalent in the general
      population varying between 1 in 500 000 and 1 in 2 000 000. As a consequence of the rarity of
      these deﬁciencies, which are expressed clinically only in homozygotes or compound
      heterozygotes, the type and severity of symptoms, the underlying molecular defects and the
      actual management of bleeding episodes are not well established as for haemophilia A and B.

      Inherited deficiencies are described for all of the known coagulation factors. In addition,
      there are people with an abnormal bleeding tendency for whom no cause has yet been
      identified. The concept of overall hemostatic balance is increasingly recognized, that it is
      not solely the level of a single factor that matters, but the overall control of hemostasis
      that may determine the bleeding risk. This may explain why the bleeding risk cannot be
      predicted from a single factor level alone as in, for example, factor VII or factor XI
      deficiency in particular. The rare factor deficiencies have several common properties: they
      are inherited in an autosomal manner, although bleeding symptoms have been described in
      heterozygous partially deficient individuals. These rare deficiencies are more common in
      populations and countries where cousin marriages are frequent and therefore there is
      considerable geographic variation in the incidence, in contrast to hemophilia and von
      Willebrand disease types I or II which occur with the same incidence in different countries.

      Clinical manifestations:

      In their most severe form, the deficiencies present with serious hemorrhage in the neonatal
      period; intracranial hemorrhage is a significant presentation of severe deficiency of FXIII,
      factor VII, factor X or fibrinogen (afibrinogenaemia). Bleeding from the umbilical stump can
      occur with any of these disorders as it can with severe hemophilia. It is important for
      caregivers to be aware that any unusual bleeding manifestation must prompt appropriate
      investigation so that diagnosis is not delayed, and appropriate replacement therapy is given
      as soon as possible. A history of consanguinity of the parents and their ethnic origin are
      relevant.

      Diagnosis should be straightforward but there are pitfalls in testing. Difficult
      venepunctures in infants in an emergency may give erroneous results due to tissue factor
      contamination. Coagulation samples do not travel well, so if plasma samples are sent to
      another laboratory they must be properly transported, generally frozen and sent on dry ice.
      It may be helpful to test both parents because, apart from the two truly recessive disorders
      detailed below, the parents will usually have evidence of partial deficiency. It is important
      for each laboratory to establish its own normal range, and to ensure that the possibility of
      genetic carriage of a disorder is fully discussed with parents irrespective of the blood
      results as the birth of more children with a serious bleeding disorder is a great emotional
      and social burden especially in countries and communities with poor health resources.

      Fibrinogen deficiency

      Fibrinogen deficiency is heterogeneous and two main phenotypes can be distinguished. In
      afibrinogenaemia, plasma and platelet levels of the protein are unmeasurable or very low when
      using assays that measure clottable and immunoreactive protein, whereas in dysfibrinogenaemia
      low clottable fibrinogen contrasts with normal or moderately reduced fibrinogen antigen.

      Clinical manifestations:

      Whereas most patients with dysfibrinogenaemia do not bleed at all, afibrinogenaemic patients
      have a bleeding tendency.

      Among severe bleeding symptoms that are dangerous for life and for the musculoskeletal
      function, umbilical cord and joint bleeding is relatively frequent (in 75% and 50% of
      patients), whereas muscle hematomas and bleeding in the gastrointestinal tract and central
      nervous system are less common.

      Milder symptoms such as epistaxis and menorrhagia are also frequent. Post-partum bleeding
      occurs when no prophylactic replacement therapy is given. Excessive blood loss and impaired
      wound healing in about one-third of the patients often accompany circumcision and other
      surgical maneuvers. There is no increased prevalence of recurrent miscarriages. Central
      nervous system bleeding is rare.

      Factor V deficiency Congenital factor V deficiency (also known as labile factor or
      proaccelerin) is a rather uncommon [1:1000,000] inherited coagulopathy (autosomal recessive
      inheritance).

      Affected patients become symptomatic in early childhood with spontaneous or post- traumatic
      bleeding complications

      Factor VII deficiency

      Factor VII deficiency is the most common autosomal recessive coagulation disorder (1 per 500
      000 population). Factor VII circulates in plasma at a concentration of approximately 0.5
      μg/mL (10 mmol/L). Plasma levels of factor VII coagulant activity (FVII:C) and FVII antigen
      (FVII: Ag) are influenced by a number of genetic and environmental factors (sex, age,
      cholesterol and triglyceride levels). The majority of patients have concomitantly low levels
      of factor VII functional activity and antigen, but several cases are characterized by normal
      or low borderline levels of factor VII antigen, contrasting with lower levels of functional
      activity. Most gene knockout mice made experimentally deficient in factor VII develop
      normally but some suffer fatal perinatal bleeding.

      Clinical manifestations:

      The severity of symptoms of factor VII deficiency is variable and generally reported to be
      poorly correlated with plasma levels. Some patients do not bleed at all after major
      challenges of haemostasis, and even cases of thrombosis have been described. life- or
      limb-endangering bleeding manifestations are relatively rare, the most frequent symptoms
      being epistaxis and menorrhagia. However, the prevalence of haemarthroses and soft-tissue
      bleeding was less than that found in other large series. The risk of central nervous system
      bleeding in infants with severe factor VII deficiency is high in some series.

      Factor VIII & factor IX deficiency:

      The hemophilias are X-linked congenital bleeding disorders, and the two major categories are
      hemophilia A (factor VIII deficiency, seen in 1 in 5,000 male births) and hemophilia B
      (factor IX deficiency, seen 1 in 30,000 male births) Prophylaxis for children with severe
      hemophilia consists of infusion of a factor concentrate two or three times a week in order to
      keep blood levels of factor VIII or IX high enough to prevent bleeding. On-demand therapy
      involves infusion of a factor concentrate immediately after bleeding starts in an effort to
      prevent joint or muscle damage

      Factor XI deficiency Factor XI deficiency is characterized by a decrease of the functional
      activity of this plasma protein, usually accompanied by correspondingly low levels of factor
      XI antigen. Most of cases reported in the literature are of Ashkenazi Jewish origin, the
      frequency of heterozygosity for factor XI deficiency being as high as 8% in this population.
      In knockout mice, the loss of the gene coding for this factor is compatible with life, with
      no tendency for spontaneous bleeding.

      Clinical manifestations:

      The relationship between the residual factor XI levels in plasma and the bleeding tendency is
      not as clear-cut as for other coagulation factor deficiencies. Usually, patients with severe
      factor XI deficiency (1% or less) are mildly affected and have bleeding symptoms only after
      trauma or surgery. Surprisingly patients with low but detectable levels of factor XI are also
      mild bleeders, severe or moderate deficiency (factor XI < 1-5%) and in patients with mild
      deficiency (6-30%). All patients were mild bleeders, but those symptoms that define the
      severity of the bleeding tendency, such as muscle hematomas and hemarthroses, showed a
      similar frequency in the two groups of deficient patients (approximately 25%). The most
      frequent symptoms were oral and post-operative bleeding, which occurred in more than 50% of
      patients.

      Differential diagnosis :

      Causes of congenital bleeding disorders

      The most common include:

      Von Willebrand Disease Hemophilia A (Factor Viii Deficiency) Hemophilia B(Factor Ix
      Deficiency)

      Less Common :

      Factor 1(Fibrinogen Deficiency) Factor II (Prothrombin Deficiency or Dysfunction) Factor V
      Deficiency Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor XIII
      Deficiency Platelet Disorders Congenital Aplastic Anemia
observational model: Case-Only
time perspective: Prospective
measure: prevalence of children with coagulation factors deficiency in Assiut University Children Hospital measured by coagulation factor deficiency checklist
time frame: 1year
description: data collected in sheet measuring type and level of deficient factor and measuring clotting tests(e.g. pt ,aptt)
measure: evaluation of inheritance of coagulation fa tors deficiency through the checklist measuring other affected family members
time frame: 1year
description: number of family members having coag factors deficiency , their age ,sex
measure: evaluation of infectious disease by measuring hepatitis c virus and human immunodeficiency virus
time frame: one year
description: hepatitis c virus and human immunodeficiency virus testing
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: 18 Years
healthy volunteers: No
last name: yomna alattar, resident
role: Principal Investigator
affiliation: Assiut University
last name: Khalid Ibrahim El-Sayeh, Professor
phone: 01005484357
email: elsayh23@yahoo.com
last name: Mohamed Amir Othman, Ass prof
phone: 01005689353
email: m_amir_riad@aun.edu.eg
citation: Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood. 2004 Sep 1;104(5):1243-52. doi: 10.1182/blood-2004-02-0595. Epub 2004 May 11.
PMID: 15138162
citation: Bolton-Maggs PH. The rare inherited coagulation disorders. Pediatr Blood Cancer. 2013;60 Suppl 1:S37-40. doi: 10.1002/pbc.24336. Epub 2012 Oct 25.
PMID: 23109366
citation: Peyvandi F, Mannucci PM. Rare coagulation disorders. Thromb Haemost. 1999 Oct;82(4):1207-14.
PMID: 10544899
citation: Ehrenforth S, Klarmann D, Zabel B, Scharrer I, Kreuz W. Severe factor V deficiency presenting as subdural haematoma in the newborn. Eur J Pediatr. 1998 Dec;157(12):1032. doi: 10.1007/s004310050993. No abstract available.
PMID: 9877047
citation: Kulkarni R, Soucie JM. Pediatric hemophilia: a review. Semin Thromb Hemost. 2011 Oct;37(7):737-44. doi: 10.1055/s-0031-1297164. Epub 2011 Dec 20.
PMID: 22187396
citation: von der Lippe C, Frich JC, Harris A, Solbraekke KN. Treatment of hemophilia: A qualitative study of mothers' perspectives. Pediatr Blood Cancer. 2017 Jan;64(1):121-127. doi: 10.1002/pbc.26167. Epub 2016 Jul 29.
PMID: 27472376
citation: KENDALL AG, LOWENSTEIN L. Alterations in blood coagulation and hemostasis during extracorporeal circulation. II. Can Med Assoc J. 1962 Oct 20;87(16):859-64. No abstract available.
PMID: 14031889
responsible party type: Principal Investigator
investigator affiliation: Assiut University
investigator full name: YHAlattar
investigator title: principle investigator
sharing ipd: No