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Detection Of β-thalassemia Carriers In Assiut

Primary Purpose

Beta-Thalassemia

Status
Unknown status
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
CBC, Iron Study, Serum Ferrittin, HPLC,Genitic Study
Sponsored by
Assiut University
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional prevention trial for Beta-Thalassemia focused on measuring HbA2, HPLC

Eligibility Criteria

1 Year - 18 Years (Child, Adult)All SexesAccepts Healthy Volunteers

Inclusion Criteria:

  • Close Relatives Of B-Thalassemia Carriers With Microcytic Hypochromic Anemia

Exclusion Criteria:

  • Normocytic Normochromic Anemia
  • Iron Deficiency Anemia

Sites / Locations

    Arms of the Study

    Arm 1

    Arm Type

    Other

    Arm Label

    Close Relatives Of β-thalassemia

    Arm Description

    Laboratory diagnostic tests as (CBC, Iron Study, Serum Ferritin, HPLC, Genetic study) will be done to Brothers, Sisters & Cousins of β-thalassemia Children With Microcytic Hypochromic Anemia Attending Assiut University Child Hospital

    Outcomes

    Primary Outcome Measures

    detection of thalassemia carriers in children with microcytic hypochromic anemia
    accurate detection of prevalence rate of thalassemia carriers among relatives of β-thalassemia

    Secondary Outcome Measures

    Full Information

    First Posted
    January 27, 2019
    Last Updated
    January 28, 2019
    Sponsor
    Assiut University
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    1. Study Identification

    Unique Protocol Identification Number
    NCT03822585
    Brief Title
    Detection Of β-thalassemia Carriers In Assiut
    Official Title
    Detection of β-thalassemia Carriers Among Close Relatives of β-thalassemia Children Attending Assiut University Children Hospital
    Study Type
    Interventional

    2. Study Status

    Record Verification Date
    January 2019
    Overall Recruitment Status
    Unknown status
    Study Start Date
    March 2019 (Anticipated)
    Primary Completion Date
    December 2019 (Anticipated)
    Study Completion Date
    June 2021 (Anticipated)

    3. Sponsor/Collaborators

    Responsible Party, by Official Title
    Principal Investigator
    Name of the Sponsor
    Assiut University

    4. Oversight

    Studies a U.S. FDA-regulated Drug Product
    No
    Studies a U.S. FDA-regulated Device Product
    No
    Data Monitoring Committee
    No

    5. Study Description

    Brief Summary
    Thalassemia is different in kids with microcytic hypochromic anemia than general population because there is a confusion between symptoms of thalassemia and iron deficiency anemia in kids and both of them differ in management and prognosis. otherwise the most commonest causes of microcytic hypochromic anemia in kids are iron deficiency anemia and thalassemia and both of them are more common in kids than in general population. Thalassemia is different in Egypt than anywhere in the world because there is no accurate estimation of incidence and prevalence of such dangerous disease in Egypt inspite of many cases attending thalassemia center (hundreds) and this disease is autosomal recessive and its incidence can be minimized by detection of carrier cases by gene study hopping that to be done as a routine premarital investigation.
    Detailed Description
    The term "thalassemia" is derived from the Greek words "Thalassa"(sea) and "Haema" (blood) and refers to disorder associated with defective synthesis of α or β-globin subunits of haemoglobin HbA There are two main types of thalassemia: α-thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha globin chains. Alpha-thalassemia is prevalent in tropical and subtropical world regions where malaria was and still is epidemic, but as a consequence of the recent massive population migrations, alpha-thalassemia has become a relatively common clinical problem in North America, North Europe, and Australia β-thalassemia syndromes are a group of hereditary blood disorders characterized by reduced or absent beta globin chain synthesis, resulting in reduced Hb in red blood cells (RBC), decreased RBC production and anemia. Most thalassemias are inherited as recessive traits. The phenotypes of homozygous or genetic heterozygous compound β-thalassemias include thalassemia major and thalassemia intermedia. Individuals with thalassemia major usually come for medical attention within the first two years of life and require regular RBC transfusions to survive. Thalassemia intermedia include patients who present later and do not require regular transfusion. Except in the rare dominant forms, heterozygous β-thalassemia results in the clinically silent carrier state. HbE/ β-thalassemia and HbC/ β-thalassemia exhibit a great range in terms of diversity of phenotypes and spectrum of severity. People who are carriers of the disease received variant genes from one parent and normal gene from the other parent Thalassemia is widespread throughout ,they are more prevalent in people living in South-East Asia, South Asia, Middle East, and Mediterranean regions Thalassemia is the most common form of inherited anemia worldwide. The World Health Organization reports suggest that about 60,000 infants are born with a major thalassemia every year. Although individuals originating from the tropical belt are most at risk, it is a growing global health problem due to extensive population migrations Population migration and intermarriage between different ethnic groups has introduced thalassemia in almost every country of the world In Egypt, β -thalassemia is the most common type with a carrier rate varying from 5.3 to 9% and a gene frequency of 0.03. So, it was estimated that 1,000/1.5 million per year live births will suffer from thalassemia disease in Egypt (total live births 1,936,205 in 2006) β Thalassemia creates a social and financial burden for the patients' family and the Egyptian government. The high frequency of beta-thalassemia carriers with increasing rate of newly born cases is a pressing reason for the importance to develop prevention program for beta-thalassemia in Egypt The thalassaemia syndromes, particularly those requiring multiple blood transfusions, are a serious burden on health services and a problem which may be increasing on a global scale . Even milder syndromes, known as thalassaemia intermedia or non-transfusion dependent thalassaemia, require careful follow up since complications are expected over time in the natural course of the disease The need for lifelong follow up and care and the occurrence of complications affecting major organs such as liver, heart and endocrine glands, creates the need for organised expert services and also the need for major resources in terms of essential drugs and donated blood for transfusions. In terms of clinical outcomes, The investigator expect that patients will survive with the best possible quality of life, if treated holistically in an expert centre Detection of asymptomatic carriers by reliable laboratory methods is the cornerstone of prevention of this serious health problem. high performance liquid chromatography (HPLC) has become the preferred technique, as it can detect most of the clinically significant variants. The simplicity of the automated system with internal sample preparation, superior resolution, rapid assay time, and accurate quantification of hemoglobin fractions makes this an ideal methodology for the routine clinical laboratory Commonly occurring mutations of the HBB gene are detected by a number of polymerase chain reaction (PCR)-based procedures. The most commonly used methods are reverse dot blot analysis or primer-specific amplification with a set of probes or primers complementary to the most common mutations in the population from which the affected individual originated Other methods based on real-time PCR or microarray technology because of their reproducibility, rapidity, and easy handling are potentially suitable for the routine clinical laboratory If targeted mutation analysis fails to detect the mutation, scanning or sequence analysis can be used. Sensitivity of both mutation scanning and sequence analysis is 99%. In the meantime, the presence of an extended deletion should be investigated by using multiplex ligation-dependent probe amplification (MPLA) Screening for genetic diseases aims to reduce the burden of these disorders on individuals by identifying those at increased risk, thereby enabling individuals to receive information about personal health, future health and/or potential health of offspring At risk individuals must be provided with information regarding the mode of inheritance, the genetic risk of having affected children and the natural history of the disease including the available treatment and therapies under investigation Several countries have set up comprehensive national prevention programs, which include public awareness and education, carrier screening, and counseling, as well as information on prenatal diagnosis and preimplantation diagnosis. These countries are Italy, Greece, Cyprus, UK, France, Iran, Thailand, Australia, Singapore, Taiwan, Hong Kong, and Cuba

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Beta-Thalassemia
    Keywords
    HbA2, HPLC

    7. Study Design

    Primary Purpose
    Prevention
    Study Phase
    Not Applicable
    Interventional Study Model
    Single Group Assignment
    Model Description
    Close Relatives Of β-Thalassemia Will Do Laboratory Tests
    Masking
    None (Open Label)
    Allocation
    N/A
    Enrollment
    100 (Anticipated)

    8. Arms, Groups, and Interventions

    Arm Title
    Close Relatives Of β-thalassemia
    Arm Type
    Other
    Arm Description
    Laboratory diagnostic tests as (CBC, Iron Study, Serum Ferritin, HPLC, Genetic study) will be done to Brothers, Sisters & Cousins of β-thalassemia Children With Microcytic Hypochromic Anemia Attending Assiut University Child Hospital
    Intervention Type
    Diagnostic Test
    Intervention Name(s)
    CBC, Iron Study, Serum Ferrittin, HPLC,Genitic Study
    Intervention Description
    high performance liquid chromatography (HPLC) has become the preferred technique, as it can detect most of the clinically significant variants. polymerase chain reaction (PCR)-based procedures detect Commonly occurring mutations of the HBB gene . If targeted mutation analysis fails to detect the mutation, scanning or sequence analysis can be used. Sensitivity of both mutation scanning and sequence analysis is 99%.
    Primary Outcome Measure Information:
    Title
    detection of thalassemia carriers in children with microcytic hypochromic anemia
    Description
    accurate detection of prevalence rate of thalassemia carriers among relatives of β-thalassemia
    Time Frame
    2 years

    10. Eligibility

    Sex
    All
    Minimum Age & Unit of Time
    1 Year
    Maximum Age & Unit of Time
    18 Years
    Accepts Healthy Volunteers
    Accepts Healthy Volunteers
    Eligibility Criteria
    Inclusion Criteria: Close Relatives Of B-Thalassemia Carriers With Microcytic Hypochromic Anemia Exclusion Criteria: Normocytic Normochromic Anemia Iron Deficiency Anemia
    Central Contact Person:
    First Name & Middle Initial & Last Name or Official Title & Degree
    Shimaa MR Abdelhakeem, MD
    Phone
    +201025713965-+96567773851
    Email
    shimaaradi2007@yahoo.com
    First Name & Middle Initial & Last Name or Official Title & Degree
    Ahmed MR Abdelhakeem
    Phone
    +201003127990
    Email
    hmradi30@gmail.com
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    Mohammed HM Ghazally, PROF
    Organizational Affiliation
    Assiut University Child Hospital
    Official's Role
    Study Director

    12. IPD Sharing Statement

    Plan to Share IPD
    Yes
    IPD Sharing Plan Description
    There is a plan to make IPD and related data dictionaries available
    IPD Sharing Time Frame
    data will become available in January 2021 for unlimited years
    IPD Sharing Access Criteria
    Through finding the research in the site of ClinicalTrials.gov
    IPD Sharing URL
    http://shimaaradi2007@yahoo.com

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    Detection Of β-thalassemia Carriers In Assiut

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