Introduction: As compared to other neighboring countries, limited information on α-thalassemia diseases is available for Lao PDR. We reported for the first time a genetic diversity associated with Hb H and AEBart's diseases in Laos patients.
Methods: Study was done on Laos patients with Hb H disease (n = 14) and AEBart's disease (n = 14) whose blood specimens were transferred to our laboratory for the investigation of thalassemia. Hematological parameters were recorded. Hb analysis was done using a capillary electrophoresis system. α- and β-globin genotypes were determined using PCR and related techniques.
Results: Hb and DNA analyses identified Hb H disease resulted from [--SEA /-α3.7 , βA /βA ] (n = 7), [--THAI /-α3.7 , βA /βA ] (n = 1), Hb H-Constant Spring (CS) disease (--SEA /αCS α, βA /βA ; n = 5), and Hb H-IVSI-117 (--SEA /ααIVSI-117G>A , βA /βA ; n = 1). For those of the AEBart's disease (n = 14), five were found to be AEBart's-CS disease [--SEA /αCS α, βE /βA ], two had [--THAI /αCS α, βE /βA ] genotype, six had AEBart's disease with (--SEA /-α3.7 , βE /βA ) genotype, and the remaining one was a patient with AEBart's-Pakse' [--SEA /αPS α, βE /βA ] disease. These --THAI and αIVSI-117G>A mutations are reported herein for the first time in Laos population. Accurate diagnosis in most cases was obtained after DNA analysis.
Conclusions: This study demonstrates the diverse heterogeneity and highlights the importance of molecular diagnosis of α-thalassemia diseases in Laos population. Data on the molecular basis of α-thalassemia should prove useful for setting up a molecular diagnostic testing for thalassemia in Laos and further hemoglobin genetic study in the region.
Keywords: AEBart's disease; Hb H disease; Laos; molecular diagnostics; thalassemia.
© 2019 John Wiley & Sons Ltd.