Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia

Completed

• Conditions: Thalassemia
• Interventions: Genetic: Laboratory analysis.

• Registration Number: NCT01443312
• Lead Sponsor: HaEmek Medical Center, Israel

Brief Summary

The definition of Thalassemia Intermedia is not generally accepted and the specific clinical and laboratory characteristics varies between patients. Some patients are blood transfusion dependent and others are occasionally transfused. Also the mutations in the beta globin gene are diverse. Another mutations including mutations in the alfa globin gene and in the xmn1 gene can affect the clinical course of this disease. The purpose of this study is to summarize the characteristics of patients with Thalassemia Intermedia treated at the Pediatric Hematology Unit at the HaEmek Medical Center in Israel

Detailed Description

The characteristics that will be recorded from the medical files include: demographic data, included gender and ethnic origin, family history, age at diagnosis, number and frequency of blood transfusions including age of first transfusion and physical examination findings.

The laboratory data included iron metabolism parameters, mutation in the alfa and beta gene and the presence of the xmn1 polymorphism.

Study Timeline

• Study First Submitted: 2011-09-27
• Study First Submitted QC: 2011-09-28
• Study First Posted: 2011-09-29
• Study Start: 2011-10
• Primary Completion: 2014-12
• Study Completion: 2014-12
• Status Verified: 2019-10
• Last Update Submitted: 2019-10-30
• Last Update Posted: 2019-11-01

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 28

Inclusion Criteria

-All patients treated at the Pediatric Hematology Unit

Exclusion Criteria

• Not enough medical records.
• Patients who refuse to give consent to perform genetic studies will be included in the study but only the retrospective clinical data will be recorded.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Thalassemia Intermedia Patients	Laboratory analysis.	Patients with Beta Thalassemia Intermedia treated at the Pediatric Hematology Unit. The characterization of Thalassemia Intermedia was based on age at diagnosis (Older than 2 ys) and / or clinical characteristics that are milder than Thalassemia Major in patients homozygous for beta globin genes.

Primary Outcome Measures

Name	Time	Method
The characteristics of patients with thalassemia intermedia	One year	Observational study that analyzed the characteristics of thalassemia intermedia patients

Trial Locations

Locations (1)

Pediatric Hematology Unit - Ha'Emek Medical Center; 🇮🇱 Afula, Israel