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
About this trial
This is an interventional prevention trial for Beta-Thalassemia focused on measuring HbA2, HPLC
Eligibility Criteria
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
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
Learn more about this trial
Detection Of β-thalassemia Carriers In Assiut
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