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

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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Key information

Conditions

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

Age range

1 year–40 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Pediatric Hematology Unit - Ha'Emek Medical Center

Afula, 18101, Israel

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Laboratory analysis.

Genetic

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

Primary outcomes

The characteristics of patients with thalassemia intermedia

Time frame: One year

Observational study that analyzed the characteristics of thalassemia intermedia patients

Sponsors and collaborators

Lead sponsor

HaEmek Medical Center, Israel

Other

Registry information

Important dates

Study start: 2011
Primary completion: 2014
Study completion: 2014
First posted: Sep 29, 2011
Registry last updated: Nov 1, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed