Molecular basis of Hb H and AEBart’s diseases in the Lao People’s Democratic Republic
Abstract
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/αCSα, 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/αCSα, βE/βA], two had [--THAI/αCSα, 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/αPSα, 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.
CONFLICT OF INTEREST
None declared.
