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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 1 | Screened pregnant women |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Observation of results from laboratory tests | Procedure | Laboratory data summary only |
|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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All pregant women attending to the Mother's and Child stations in northern Israel
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| Name | Affiliation | Role |
|---|---|---|
| Ariel Koren, MD | Pediatric Hematology Unit, Ha'Emek Medical Center | Study Director |
| Idit Koren, Medical Student | Pediatric Hematology Unit - Ha'Emek Medical Center | Principal Investigator |
| Carina Levin, MD | Pediatric Dpt B - Ha'Emek Medical Center | Study Chair |
| Luci Zalman, PhD | Hematology Laboratory - HaEmek Medical Center | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Pediatric Hematology Unit - HaEmek Medical Center | Afula | 18101 | Israel |
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| ID | Term |
|---|---|
| D013789 | Thalassemia |
| D000090463 | Iron Deficiencies |
| ID | Term |
|---|---|
| D000745 | Anemia, Hemolytic, Congenital |
| D000743 | Anemia, Hemolytic |
| D000740 | Anemia |
| D006402 | Hematologic Diseases |
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| D006425 |
| Hemic and Lymphatic Diseases |
| D006453 | Hemoglobinopathies |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D019189 | Iron Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |