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

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

COMPLETED

Total Enrollment

28 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-10-31

Study Completion Date

2014-12-31

Brief Summary

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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

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Detailed Description

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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

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Thalassemia

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

Laboratory analysis.

Intervention Type GENETIC

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

Interventions

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Laboratory analysis.

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

Intervention Type GENETIC

Eligibility Criteria

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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.

Minimum Eligible Age

1 Year

Maximum Eligible Age

40 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No