Clinical trial NCT06720480: Thalassaemia Severity
Official title: Thalassaemia Severity Score in Upper Egypt Patients Attending Assuit University Children Hospital
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Thalassaemia
Keywords: Thalassaemia severity score
Lead sponsor: Assiut University
Sponsor class: OTHER
First posted: 2024-12-06
Enrollment: 85
Sex: ALL
Minimum age (years): 6
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Children from 6month till 18years who have thalassaemia

Brief summary: 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: 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, \&gt;90% of patients with these disorders live in low- and middle-income countries

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* Non Thalassaemia children

Primary outcomes:
measure: Scoring thalassaemia severity
timeFrame: 1year
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
affiliation: Assiut University
name: Shereen Mansour Galal, Associate professor
role: STUDY_DIRECTOR
References:
citation: 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.