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Blood Cells Mol Dis. 2013 Aug;51(2):89-93. doi: 10.1016/j.bcmd.2013.04.003. Epub 2013 Apr 29.

Molecular and hematological studies in a large cohort of α(0)-thalassemia in northeast Thailand: data from a single referral center.

Author information

1
Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.

Abstract

α(0)-thalassemia is the most severe form of α-thalassemia alleles found among Southeast Asian and Chinese populations and can cause a fatal condition known as hemoglobin Bart's hydrops fetalis and hemoglobin H disease. In order to provide the molecular epidemiological characteristic of α(0)-thalassemia in northeast Thailand, a total of 12,525 blood specimens referred to our center at Khon Kaen University in northeast Thailand during October 2008 to January 2012 were studied. Hematological parameters were recorded and DNA deletions causing α(0)-thalassemia were examined by PCR related techniques. Among 12,525 samples examined, α(0)-thalassemia alleles were identified in 1,873 (15.0%) samples, including 1855 (14.8%) cases with Southeast Asian (--(SEA)) deletion and 18 cases (0.2%) with THAI deletion (--(THAI)). As many as twenty genotypes were encountered. Hb profiles and hematological parameters were comparatively presented. Data on prevalence, molecular features and phenotypic expression of α(0)-thalassemia should prove useful in a carrier screening and a prevention and control program of this common genetic disorder in the region.

PMID:
23639268
DOI:
10.1016/j.bcmd.2013.04.003
[Indexed for MEDLINE]

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