NCT01443312

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 28 (actual)
• Sponsor: HaEmek Medical Center, Israel · Academic / Other
• Sex: All
• Age: 1 Year – 40 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Thalassemia

Interventions

Type	Name	Description
GENETIC	Laboratory analysis.	The blood transfusions given to the patients are in accord to physician decision and not related to the study

Timeline

• Start date: 2011-10-01
• Primary completion: 2014-12-01
• Completion: 2014-12-01
• First posted: 2011-09-29
• Last updated: 2019-11-01

Locations

1 site across 1 country: Israel