Thalassaemia Severity

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

85 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-12-31

Study Completion Date

2025-12-31

Brief Summary

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This study aims to develop a nuanced understanding of thalassemia severity in Upper Egypt by integrating various clinical parameters beyond transfusion frequency. By doing so, it seeks to enhance patient management and ultimately improve quality of life for those affected by this condition.

Detailed Description

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Thalassemia syndrome classified as hemoglobinopathies, represent one of the most prevalent classes of single-gene disorders globally. The mutations in the HBB gene lead to variable impacts on the production of globin proteins, which in turn affects the overall function of hemoglobin. The genetic variants contribute significantly to the diverse clinical presentations and severity of thalassemia. Traditionally, thalassemia has been categorized into Major, intermediate, and Minor based on the frequency of blood transfusions required for survival It has been observed that anemia may not be the sole determinant of thalassemic disease severity, other factors are also responsible for overall clinical status.

Accordingly, clinical conditions of the thalassemia patient, cannot classified based on the transfusion status.

Phadke et al. (2006), proposed a classification that considers multiple parameters beyond transfusion status . Similarly, Sripichai et al , (2008) classified HbE/β-thalassemia into the 3 categories of mild, moderate, and severe. Another classification was also introduced by Thalassemia International Federation (TIF) , which 'was bit modification Sripichai et al 2008 . Despite these advancements, existing classifications still tend to simplify thalassemia into three categories Globally, An estimated 1-5% of the global population are carriers of a genetic thalassemia mutation.Although the epidemiology of the various clinical forms remains poorly recognized, the disease is known to be highly prevalent in the area extending from sub-Saharan Africa, through the Mediterranean region and Middle East, to the Indian subcontinent and East and Southeast Asia.Thus, \>90% of patients with these disorders live in low- and middle-income countries

Conditions

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Thalassaemia

Keywords

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Thalassaemia severity score

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Interventions

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Homglobin Electrophoresis

To diagnose thalassaemia \&best method to control disease progress

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

\- Children and adolescents aged from 18 month to 18 year old. Those with thalassemia

Exclusion Criteria

* Non Thalassaemia children

Minimum Eligible Age

6 Months

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Alzhraa gaber mohamed

Resident doctor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Shereen Mansour Galal, Associate professor

Role: STUDY_DIRECTOR

Assiut University

Central Contacts

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AlZhraa Gaber Mohamed, Master degree

Role: CONTACT

Phone: 800-555-5555

Email: [email protected]

Khalid Ibrahim Abdrahman El-sayeh, Proffesour

Role: CONTACT

Phone: 0100 548 4357

Email: [email protected]

References

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Danjou F, Francavilla M, Anni F, Satta S, Demartis FR, Perseu L, Manca M, Sollaino MC, Manunza L, Mereu E, Marceddu G, Pissard S, Joly P, Thuret I, Origa R, Borg J, Forni GL, Piga A, Lai ME, Badens C, Moi P, Galanello R. A genetic score for the prediction of beta-thalassemia severity. Haematologica. 2015 Apr;100(4):452-7. doi: 10.3324/haematol.2014.113886. Epub 2014 Dec 5.

Reference Type RESULT

PMID: 25480500 (View on PubMed)

Other Identifiers

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