A pcr-based method to detect alpha thalassemia with south east asia mutation

الملخص EN

Objective: The currently existing techniques in ordinary hematology laboratories do not allow for definitive diagnosis of alpha thalassemia carrier status.

The objective of this study was to optimize a polymerase chain reaction-based method for the detection of the most common two-gene deletional alpha thalassemia of South East Asia type mutation.

The detection of hemoglobin Barts hydrops fetalis, homozygous for this mutation, was also performed. Methods: Patients were selected upon reduced blood indices (Mean Corpuscular Hemoglobin, Mean Corpuscular Volume).

Assessment of iron status and HbA2 measurement were carried out to exclude iron deficiency and/or beta thalassemia carrier status.

Polymerase chain reaction was carried out and the amplification products were electrophoreses using agarose gel. Results: A 195 bp DNA fragment associated with the SEA deletion was successfully amplified as well as a 314 bp DNA fragment representing the normal chromosome. Conclusion: The PCR described here allows rapid, sensitive, and specific detection of alpha thalassemia carriers with South East Asia type mutation and can be used for prenatal detection of hydrops fetalis caused by this mutation as well as for large population screening