Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A2 in the Thai population
نویسندگان
چکیده
منابع مشابه
KLF1 gene and borderline hemoglobin A2 in Saudi population
Introduction Elevated HbA2 (hemoglobin A2) level is considered the most reliable hematological parameter for the detection of β-thalassemia carriers. However, some carriers are difficult to recognize because the level of HbA2 is not in the distinctive carrier range, i.e. 4.0-6.0%; instead, some carriers have HbA2 levels between normal and carrier levels, i.e. borderline HbA2 (HbA2 = 3.1-3.9%). ...
متن کاملTen novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
We investigated whether mutations in the KLF1 gene are associated with increased Hb F levels in ethnically diverse patients referred to our laboratory for hemoglobinopathy investigation. Functionally effective KLF1 mutations were identified in 11 out of 131 adult samples with an elevated Hb F level (1.5-25.0%). Eleven different mutations were identified, 9 of which were previously unreported. K...
متن کاملErythroid phenotypes associated with KLF1 mutations.
Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta; Laboratory of Molecular Genetics, Department of Physiology & Biochemistry, University of Malta, Malta; University of Patras, Department of Pharmacy, University Campus, Patras, Greece; Thalassaemia Clinic, Section of Pathology, Mater Dei Hospital, Msida, Malta; Erasmus MC, Department of Cell Biology; Nethe...
متن کاملKLF1 gene mutations cause borderline HbA(2).
Increased hemoglobin A(2) (HbA(2); ie, levels > 3.9%) is the most important feature of β-thalassemia carriers. However, it is not uncommon to find persons with borderline HbA(2) (levels, 3.3%-3.8%), who pose a relevant screening problem. Several genotypes have been associated with borderline HbA(2), but sometimes the reasons for this unusual phenotype are unknown. In this paper, we report, for ...
متن کاملSignificance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.
We report a retrospective analysis carried out on 23,485 subjects submitted to a screening program from 2000 to 2006. Of these subjects, 3,934 had borderline HbA(2) values from 3.1 to 3.9%; 410 samples, analyzed previously using PCR methods and sequencing because all of these were partners of a carrier of classical beta-thalassemia, were selected for statistical analysis. Of 410 subjects, 94 (2...
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ژورنال
عنوان ژورنال: Archives of Medical Science
سال: 2020
ISSN: 1734-1922,1896-9151
DOI: 10.5114/aoms.2020.93392