Study of the first affordable and rapid test for beta thalassemia
The beta thalassemia test could help couples make informed reproductive choices, ensure appropriate maternal care, and facilitate diagnosis in infants
11 Mar 2024
Product news
A clinical study to validate the beta thalassemia (beta-thal) diagnostic capability of the Gazelle® Hb Variant Test from Hemex Health, showed that Gazelle correctly identified participating subjects with beta-thal major, beta-thal intermedia, and beta-thal trait with a combined accuracy of over 99% compared with the laboratory gold standard, high-performance liquid chromatography (HPLC). This study concluded that Gazelle provides, for the first time, an affordable and rapid solution for identifying beta-thal at point of care.
The ability to test accurately and rapidly (results are available in eight minutes) as demonstrated in this study suggests that Gazelle is suitable for large-scale testing of beta-thal at point of care. The affordability and convenience of a point-of-care test would make it easier for millions of couples to make informed reproductive choices, ensure appropriate maternal care, and facilitate diagnosis in infants.
Beta thalassemia is an inherited blood disorder. Patients with the most severe form of the disease, beta-thal major, may require life-long transfusions for survival. Most people with beta-thal trait do not know they have it or do not realize that they may have a child with disease if their partner also has trait. A study published in the European Journal of Hematology has shown, however, that incidence rates decrease in areas with screening and education programs.
The Gazelle Hb Variant test can identify 19 hemoglobinopathy conditions including beta-thal disease and trait and sickle cell disease and trait. The Gazelle in vitro device costs about the same as a cell phone and individual tests are low cost. The sensitive detection and precise quantification of variants allows Gazelle to identify beta-thal disease or trait in babies as young as six months, and sickle cell disease and trait in newborns as early as 37 weeks gestation.
The newly published study was conducted on 372 subjects and on 30 blood samples prepared to represent untreated beta thal intermedia and major. Compared with the results reported from the laboratory standard test HPLC, Gazelle identified subjects with beta-thal major and beta-thal intermedia vs normal subjects with 100% accuracy. Additionally, Gazelle identified subjects with beta-thal major/intermedia vs subjects with beta-thal trait with 100% sensitivity and specificity. Sensitivity and specificity for identifying subjects with beta-thal trait versus normal subjects were 100% and 98.3%, respectively.
Hemoglobin (Hb) disorders are among the world's most common monogenic diseases. Globally, approximately 1.5% of the world population carry beta thalassemia, affecting 40,000 newborns every year. Over 90% of patients with beta thalassemia live in low-and-middle resource settings including Africa, Middle East, Southeast Asia and Southern Europe where access to affordable testing is limited.