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Detection Of β-thalassemia Carriers In Assiut

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ClinicalTrials.gov Identifier: NCT03822585
Recruitment Status : Not yet recruiting
First Posted : January 30, 2019
Last Update Posted : January 30, 2019
Sponsor:
Information provided by (Responsible Party):
Shimaa Mohammed Radi Abdelhakeem, Assiut University

Tracking Information
First Submitted Date  ICMJE January 27, 2019
First Posted Date  ICMJE January 30, 2019
Last Update Posted Date January 30, 2019
Estimated Study Start Date  ICMJE March 2019
Estimated Primary Completion Date December 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: January 28, 2019)
detection of thalassemia carriers in children with microcytic hypochromic anemia [ Time Frame: 2 years ]
accurate detection of prevalence rate of thalassemia carriers among relatives of β-thalassemia
Original Primary Outcome Measures  ICMJE Same as current
Change History No Changes Posted
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Detection Of β-thalassemia Carriers In Assiut
Official Title  ICMJE Detection of β-thalassemia Carriers Among Close Relatives of β-thalassemia Children Attending Assiut University Children Hospital
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

Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Intervention Model: Single Group Assignment
Intervention Model Description:
Close Relatives Of β-Thalassemia Will Do Laboratory Tests
Masking: None (Open Label)
Primary Purpose: Prevention
Condition  ICMJE Beta-Thalassemia
Intervention  ICMJE Diagnostic Test: CBC, Iron Study, Serum Ferrittin, HPLC,Genitic Study

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%.

Study Arms  ICMJE Close Relatives Of β-thalassemia
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: Diagnostic Test: CBC, Iron Study, Serum Ferrittin, HPLC,Genitic Study
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Not yet recruiting
Estimated Enrollment  ICMJE
 (submitted: January 28, 2019)
100
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE June 2021
Estimated Primary Completion Date December 2019   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

Inclusion Criteria:

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

Exclusion Criteria:

  • Normocytic Normochromic Anemia
  • Iron Deficiency Anemia
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 1 Year to 18 Years   (Child, Adult)
Accepts Healthy Volunteers  ICMJE Yes
Contacts  ICMJE
Contact: Shimaa MR Abdelhakeem, MD +201025713965-+96567773851 shimaaradi2007@yahoo.com
Contact: Ahmed MR Abdelhakeem +201003127990 hmradi30@gmail.com
Listed Location Countries  ICMJE Not Provided
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03822585
Other Study ID Numbers  ICMJE Thalassemia Carriers
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE
Plan to Share IPD: Yes
Plan Description: There is a plan to make IPD and related data dictionaries available
Supporting Materials: Study Protocol
Supporting Materials: Statistical Analysis Plan (SAP)
Supporting Materials: Informed Consent Form (ICF)
Supporting Materials: Clinical Study Report (CSR)
Supporting Materials: Analytic Code
Time Frame: data will become available in January 2021 for unlimited years
Access Criteria: Through finding the research in the site of ClinicalTrials.gov
URL: http://shimaaradi2007@yahoo.com
Responsible Party Shimaa Mohammed Radi Abdelhakeem, Assiut University
Study Sponsor  ICMJE Assiut University
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Study Director: Mohammed HM Ghazally, PROF Assiut University Child Hospital
PRS Account Assiut University
Verification Date January 2019

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP