Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter

Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter. A Clinical Retrospective Study.

β thalassemia is an autosomal recessive hemoglobinopathy and considered as the most widespread genetic mutation. According to the World Health Organization (WHO) between 1.5-7% of the world population are carriers for this disease, and every year 60,000-400,000 birth of new patients are reported. In Israel, the incidence of carriers for β thalassemia is around 20% among the Jewish from Kurdish origin and around 5-10% among the Arab population.

β thalassemia is a severe disease which requires many resources, both medical and financial. The disease is expressed by chronic hemolytic anemia which requires regular blood transfusions every 3 weeks. As a result of the blood transfusions and the iron absorption by the digestive tract, those patients suffer from severe hemosiderosis which is the main mortality cause in the disease, mainly in the second decade for life. Daily treatment with iron chelator is required. Moreover, despite the actual treatment, the quality of life of those patients is still low.

Therefore the implementation of a prevention program which includes finding an effective and inexpensive way for identifying the β thalassemia carriers is a humanitary and publicly important goal.

In β thalassemia carriers, laboratory tests will show hypochromic microcytic anemia. Those findings are similar in iron deficiency anemia, but the RBC number and the RDW are normal in thalassemia carriers.

Few researchers tried in the past to determine cutoff point for diagnosis of β thalassemia carriers by different formulas.

We used the algorithm SVM (support vector machine) to find a reliable formula that can separate patients with Iron deficiency anemia/ healthy from patients with β thalassemia minor (carriers). This formula can be inserted to any automatic blood counter and search for suspected carriers without deliberately intention and without any further blood test.

Study Overview

• Status: Unknown
• Conditions: Iron Deficiency; Thalassemia
• Intervention / Treatment: Procedure: Observation of results from laboratory tests

• Study Type: Observational
• Enrollment (Anticipated): 30000

Contacts and Locations

Study Locations

• Israel
  • Afula, Israel, 18101
    • Pediatric Hematology Unit - HaEmek Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 17 years to 50 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

All pregant women attending to the Mother's and Child stations in northern Israel

Description

Inclusion Criteria:

• Blood count and Hgb electrophoresis analysis received from pregnant women send for screening for thalassemia.

Exclusion Criteria:

• Age below 17 yrs and older than 50 yrs.
• Sever anemia with hgb level below 8 gr/dl.

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Retrospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
1; Screened pregnant women	Procedure: Observation of results from laboratory tests; Laboratory data summary only

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Detection of β Thalassemia Carriers by Red Cell Parameters	Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the Automatic blood count counter using mathematics formula	One year

Collaborators and Investigators

• Sponsor: HaEmek Medical Center, Israel
• Investigators: Principal Investigator: Idit Koren, Medical Student, Pediatric Hematology Unit - Ha'Emek Medical Center; Study Chair: Carina Levin, MD, Pediatric Dpt B - Ha'Emek Medical Center

Study record dates

Study Major Dates

• Study Start: March 1, 2007
• Primary Completion (Anticipated): December 31, 2020
• Study Completion (Anticipated): December 31, 2020

Study Registration Dates

• First Submitted: May 31, 2007
• First Submitted That Met QC Criteria: May 31, 2007
• First Posted (Estimate): June 1, 2007

Study Record Updates

• Last Update Posted (Actual): November 1, 2019
• Last Update Submitted That Met QC Criteria: October 30, 2019
• Last Verified: October 1, 2019

More Information

Terms related to this study

• Keywords: Thalassemia; Iron Deficiency; Carrier screening
• Additional Relevant MeSH Terms: Metabolic Diseases; Hematologic Diseases; Genetic Diseases, Inborn; Anemia, Hypochromic; Anemia; Iron Metabolism Disorders; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Anemia, Iron-Deficiency; Thalassemia; beta-Thalassemia
• Other Study ID Numbers: 5210906.EMC