Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia
| Autor: | Moudi E. Al-Nashmi, Noureddine Ben Khalaf, Alexander Woodman, Nihal M. Heiba, Dahmani M. Fathallah, Lamiaa H. Al-Jamea, Jenifer Vecina Quiambao, Abdel Halim Deifalla, Shereen A. Elshazly |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
TMPRSS6 Adolescent Duodenum Iron Hepcidin Mutation Missense Saudi Arabia IRIDA lcsh:RC254-282 Exon Gene Frequency hemic and lymphatic diseases Genetic variation Medicine Humans Point Mutation Child Allele frequency Gene Alleles Genetics biology Anemia Iron-Deficiency lcsh:RC633-647.5 business.industry Serine Endopeptidases Intron Membrane Proteins lcsh:Diseases of the blood and blood-forming organs Hematology General Medicine Middle Aged lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens medicine.disease Oncology Iron-deficiency anemia Amino Acid Substitution Intestinal Absorption biology.protein IDA Female Matriptase-2 business 5' Untranslated Regions |
| Zdroj: | Hematology/Oncology and Stem Cell Therapy, Vol 14, Iss 1, Pp 41-50 (2021) |
| ISSN: | 2589-0646 |
| Popis: | Objective/background Mutations in transmembrane protease serine 6 (TMPRSS6) gene induce high hepcidin level, which causes iron-refractory iron deficiency anemia (IRIDA) by preventing duodenal iron absorption. This study aims to identify the common genetic variations of the TMPRSS6 gene that affect iron levels among Saudi female patients with iron deficiency anemia (IDA). Methods All study participants were Saudi females (12–49 years old): 32 patients with IDA, 32 patients with IRIDA, and 34 healthy individuals comprising the control group. Hematological investigations, iron profile, serum hepcidin level, and TMPRSS6 gene transcription were determined. The TMPRSS6 gene was amplified, sequenced, and analyzed among all study participants. Results The mean hepcidin and TMPRSS6 RNA transcription levels in IDA and IRIDA groups were significantly lower than those in the control group. TMPRSS6 gene sequence analysis detected 41 variants: two in the 5′ untranslated region (5′UTR), 17 in introns, and 22 in exons. Thirty-three variants were previously reported in the Single Nucleotide Polymorphism Database, and eight variants were novel; one novel variant was in 5′UTR (g.-2 T > G); five novel variants were detected in exons (p.W73X, p.D479N, p.E523K, p.L674L, and p.I799I). At the time of the sequence analysis of our samples, two variants—p.D479N and p.674L—were novel. However, these variants are present at a very low allele frequency in other populations (L674L, 0.00007761 and D479N, 0.000003980). Conclusion This is the first study to investigate the genetic variants of TMPRSS6 gene in Saudi female patients with IDA. The generated data will serve as a reference for future studies on IDA in the Arab population. |
| Databáze: | OpenAIRE |
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