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

NCT01443312 | Completed

• 1 other identifier: 0047-10-EMC
• Study Type: observational
• Target: 28
• Locations: 1 country
• Sites: 1

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

Conditions

Thalassemia

Keywords

Beta globin gene; Alfa globin gene; xmn1 polymorphism

Outcome Measures

Primary Outcomes (1)

• The characteristics of patients with thalassemia intermedia

  Observational study that analyzed the characteristics of thalassemia intermedia patients

  One year

Study Arms (1)

Thalassemia Intermedia Patients

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.

Genetic: Laboratory analysis.

Interventions

Laboratory analysis. GENETIC

The blood transfusions given to the patients are in accord to physician decision and not related to the study

Thalassemia Intermedia Patients

Eligibility Criteria

• Age: 1 Year - 40 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients with beta Thalassemia Intermedia.

You may qualify if:

• All patients treated at the Pediatric Hematology Unit

You may not qualify if:

• 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.

Sponsors & Collaborators

• HaEmek Medical Center, Israel: lead

Study Sites (1)

Pediatric Hematology Unit - Ha'Emek Medical Center

Afula, 18101, Israel

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA samples will be obtained to analyze the beta and alfa globin genes and the xmn1 polymorphism.

MeSH Terms

Conditions

Thalassemia

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Ariel Koren, MD

  Ha'Emek Medical Center, Afula, Israel

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of Pediatric Dpt B and Pediatric Hematology Unit

Study Record Dates

• First Submitted: September 27, 2011
• First Posted: September 29, 2011
• Study Start: October 1, 2011
• Primary Completion: December 1, 2014
• Study Completion: December 1, 2014
• Last Updated: November 1, 2019

Record last verified: 2019-10

Locations

IL (1)