Clinical trial NCT00481221: Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter
Official title: Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter. A Clinical Retrospective Study.
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Thalassemia
Iron Deficiency
Keywords: Thalassemia
Iron Deficiency
Carrier screening
Lead sponsor: HaEmek Medical Center, Israel
Sponsor class: OTHER
First posted: 2007-06-01
Enrollment: 30000
Sex: FEMALE
Minimum age (years): 17
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: All pregant women attending to the Mother's and Child stations in northern Israel

Brief summary: 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.


Eligibility criteria: 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.

Primary outcomes:
measure: Detection of β Thalassemia Carriers by Red Cell Parameters
timeFrame: One year
Secondary outcomes:
Other outcomes:
Locations:
city: Afula
country: Israel
facility: Pediatric Hematology Unit - HaEmek Medical Center
Study officials:
affiliation: Pediatric Hematology Unit, Ha'Emek Medical Center
name: Ariel Koren, MD
role: STUDY_DIRECTOR
affiliation: Pediatric Hematology Unit - Ha'Emek Medical Center
name: Idit Koren, Medical Student
role: PRINCIPAL_INVESTIGATOR
affiliation: Pediatric Dpt B - Ha'Emek Medical Center
name: Carina Levin, MD
role: STUDY_CHAIR
affiliation: Hematology Laboratory - HaEmek Medical Center
name: Luci Zalman, PhD
role: STUDY_CHAIR
References: