Thalassemias are characterized by inherited defective hemoglobin synthesis leading to microcytic, hemolytic anemias. The clinical heterogeneity ranges from asymptomatic to very severe forms requiring regular blood transfusions. Globin StripAssays^® detect common thalassemia-causing genetic variants worldwide, and the β-Thal Modifier StripAssay^® identifies co-inherited variants known to ameliorate severity of beta-thalassemia.

Thalassemia

• Severe thalassemia is life-limiting and poses a major public health burden in Mediterranean countries, Africa, the Middle East, South-East Asia, and the Indian subcontinent.
• Mutations in the alpha- and beta-globin genes lead to reduced or abolished globin-chain synthesis or cause structurally abnormal hemoglobin.
• Genetic analysis is required to confirm the clinical diagnosis and is indispensable for genetic counseling.
• Apart from bone marrow transplantation, no ultimate cure is available up-to-date. However, identifying favorable genetic modifiers in patients help to predict the severity of beta-thalassemia phenotypes.

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Citations:

1. Leixner G., et al., 2026. Performance of the automated DNA extraction with MagNA Pure 24 for further genetic testing for hemoglobinopathies with Globin StripAssays. Vienna clinical weekly vol. 138.13-14. doi:10.1007/s00508-025-02674-9.

 2. Al-Allawi N., et al., 2024. A Population-Oriented Genetic Scoring System to Predict Phenotype: A Pathway to Personalized Medicine in Iraqis With β-Thalassemia. Hemoglobin, 48(2), 94-100. doi:10.1080/03630269.2024.2319733.

3. Al-Allawi N., et al., 2019. The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease. International journal of laboratory hematology vol. 41,1: 87-93. doi:10.1111/ijlh.12927.

 4. Karakochuk C., et al., 2017. The effect of oral iron with or without multiple micronutrients on hemoglobin concentration and hemoglobin response among nonpregnant Cambodian women of reproductive age: a 2 x 2 factorial, double-blind, randomized controlled supplementation trial. The American journal of clinical nutrition vol. 106,1: 233-244. doi:10.3945/ajcn.116.140996.