Molecular basis of Hb H and AEBart's diseases in the Lao People's Democratic Republic. (6th November 2019)

• Record Type: Journal Article
• Authors: Singha, Kritsada; Srivorakun, Hataichanok; Fucharoen, Goonnapa; Fucharoen, Supan
• Is Part Of: International journal of laboratory hematology. Volume 42:Number 1(2020:Feb.)
• Page Start: 23
• Page End: 27
• Publication Date: 2019-11-06
• Subjects: AEBart's disease -- Hb H disease -- Laos -- molecular diagnostics -- thalassemia; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; Hematology -- Periodicals; 616.15005
• DOI: 10.1111/ijlh.13118
• Languages: English
• ISSNs: 1751-5521

Abstract

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.