KLF1 gene and borderline hemoglobin A 2 in Saudi population.

Autor: Borgio JF; Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), University of Dammam, Dammam, Saudi Arabia., AbdulAzeez S; Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), University of Dammam, Dammam, Saudi Arabia., Al-Muslami AM; Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), University of Dammam, Dammam, Saudi Arabia., Naserullah ZA; Dammam Maternity and Child Hospital, Dammam, Saudi Arabia., Al-Jarrash S; Dammam Maternity and Child Hospital, Dammam, Saudi Arabia., Al-Suliman AM; Al-Omran Scientific Chair for Hematological Diseases Prevalent in the Al-Ahssa Area, King Faisal University, Al-Ahssa, Saudi Arabia., Al-Madan MS; Department of Pediatrics, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia., Al-Ali AK; Department of Biochemistry, University of Dammam, Dammam, Saudi Arabia.
Jazyk: angličtina
Zdroj: Archives of medical science : AMS [Arch Med Sci] 2018 Jan; Vol. 14 (1), pp. 230-236. Date of Electronic Publication: 2017 Dec 19.
DOI: 10.5114/aoms.2018.72245
Abstrakt: Introduction: Elevated HbA 2 (hemoglobin A 2 ) 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 HbA 2 is not in the distinctive carrier range, i.e. 4.0-6.0%; instead, some carriers have HbA 2 levels between normal and carrier levels, i.e. borderline HbA 2 (HbA 2 = 3.1-3.9%). Studies have shown that variations in the erythroid Krüppel-like factor ( KLF1 ) gene lead to borderline HbA 2 in β-thalassemia carriers from various populations. The incidence of borderline HbA 2 in Saudis is high.
Material and Methods: To confirm the influence of variations in KLF1 , HBA1 , HBA2 and HBB genes for the reduction of the level of HbA 2 in Saudi β-thalassemia carriers, we performed a direct sequence analysis of KLF1 , HBA1 , HBA2 and HBB genes from 212 healthy Saudis (88 subjects: HbA 2 < 3; 72 subjects: HbA 2 = 3.1 to 3.9; 52 subjects HbA 2 > 4.3).
Results: The presence of the borderline HbA 2 level is not specific to any type of β-thalassemia variation or β + -thalassemia variations in Saudis. Two exonic (c.304T>C and c.544T>C) and two 3' untranslated region (3'UTR) (c.*296G>A and c.*277C>G) variations have been identified in the KLF1 gene for the first time from an Arab population. None of these four variations in KLF1 genes are significantly associated with the Saudis with borderline HbA 2 . α Globin genotype, -α 2 3.7 /α 1 α 2 , is found to be the most frequent (55.55%) among healthy Saudis with borderline HbA 2 compared with the other groups (HbA 2 < 3 = 20.45%; HbA 2 > 4.3 = 13.51%).
Conclusions: Further studies are necessary to determine the influence of other factors on the presence of borderline HbA 2 in 41.67% of Saudis.
Competing Interests: The authors declare no conflict of interest.
Databáze: MEDLINE
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