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Molecular basis of Hb H and AEBart’s diseases in the Lao People’s Democratic Republic
Author(s) -
Singha Kritsada,
Srivorakun Hataichanok,
Fucharoen Goonnapa,
Fucharoen Supan
Publication year - 2020
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.13118
Subject(s) - genotype , disease , population , thalassemia , beta thalassemia , medicine , biology , genetics , gene , environmental health
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 /−α 3.7 , β A /β A ] (n = 7), [‐‐ THAI /−α 3.7 , β A /β A ] (n = 1), Hb H‐Constant Spring (CS) disease (‐‐ SEA /α CS α, β A /β A ; n = 5), and Hb H‐IVSI‐117 (‐‐ SEA /αα IVSI‐117G>A , β A /β A ; n = 1). For those of the AEBart's disease (n = 14), five were found to be AEBart's‐CS disease [‐‐ SEA /α CS α, β E /β A ], two had [‐‐ THAI /α CS α, β E /β A ] genotype, six had AEBart's disease with (‐‐ SEA /−α 3.7 , β E /β A ) genotype, and the remaining one was a patient with AEBart's‐Pakse′ [‐‐ SEA /α PS α, β E /β A ] disease. These ‐‐ THAI and α IVSI‐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.