Could the 3′UTR+101G>C Mutation Detected in Two Sibling Cases Be a Mutation Affecting the Clinical Presentation in Thalassemia Patients?
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Keywords
Transfusion-dependent β-thalassemia, β-thalassemia mutations, 3′UTR+101G>C mutation
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References
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2. Modell B, Darlison M (2008) Global epidemiology of hemoglobin disorders and derived service indicators. Bull World Health Organ 86: 480–487. Doi: 10.2471/blt.06.036673
3. Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M. IthaGenes: an interactive database for hemoglobin variations and epidemiology. PLoS One 2014;9:e103020. Doi: 10.1371/journal.pone.0103020
4. Guzelgul F, Seydel GS, Aksoy K. β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey. Hemoglobin. 2020 Jul;44(4):249-253. Doi: 10.1080/03630269.2020.1792489.
5. Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine. Samha L, Sirdah MM, Reading NS, Karmi B, Agarwal AM. Hemoglobin. 2020 Mar;44(2):128-130. Doi: 10.1080/03630269.2020.1763398.
6. Updated Molecular Spectrum of β-Thalassemia Mutations in Duhok Province, Northern Iraq: Ethnic Variation and the Impact of Immigration. Atroshi SD, Al-Allawi NAS, Eissa AA. Hemoglobin. 2021 Jul;45(4):239-244. Doi: 10.1080/03630269.2021.1984250.
7. The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study. Farra C, Abdouni L, Souaid M, Awwad J, Yazbeck N, Abboud M. Hemoglobin. 2021 Nov;45(6):365-370. Doi: 10.1080/03630269.2021.1920975.
8. Nazı Başak A. The molecular pathology of β-thalassemia in Turkey: the Boğaziçi University experience. Hemoglobin. 2007;31(2):233–241. Doi: 10.1080/03630260701296735
9. Tadmouri GO, Başak AN. β Thalassemia in Turkey: a review of the clinical, epidemiological, molecular, and evolutionary aspects. Hemoglobin. 2001;25(2):227–239. Doi: 10.1081/hem-100104031
2. Modell B, Darlison M (2008) Global epidemiology of hemoglobin disorders and derived service indicators. Bull World Health Organ 86: 480–487. Doi: 10.2471/blt.06.036673
3. Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M. IthaGenes: an interactive database for hemoglobin variations and epidemiology. PLoS One 2014;9:e103020. Doi: 10.1371/journal.pone.0103020
4. Guzelgul F, Seydel GS, Aksoy K. β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey. Hemoglobin. 2020 Jul;44(4):249-253. Doi: 10.1080/03630269.2020.1792489.
5. Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine. Samha L, Sirdah MM, Reading NS, Karmi B, Agarwal AM. Hemoglobin. 2020 Mar;44(2):128-130. Doi: 10.1080/03630269.2020.1763398.
6. Updated Molecular Spectrum of β-Thalassemia Mutations in Duhok Province, Northern Iraq: Ethnic Variation and the Impact of Immigration. Atroshi SD, Al-Allawi NAS, Eissa AA. Hemoglobin. 2021 Jul;45(4):239-244. Doi: 10.1080/03630269.2021.1984250.
7. The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study. Farra C, Abdouni L, Souaid M, Awwad J, Yazbeck N, Abboud M. Hemoglobin. 2021 Nov;45(6):365-370. Doi: 10.1080/03630269.2021.1920975.
8. Nazı Başak A. The molecular pathology of β-thalassemia in Turkey: the Boğaziçi University experience. Hemoglobin. 2007;31(2):233–241. Doi: 10.1080/03630260701296735
9. Tadmouri GO, Başak AN. β Thalassemia in Turkey: a review of the clinical, epidemiological, molecular, and evolutionary aspects. Hemoglobin. 2001;25(2):227–239. Doi: 10.1081/hem-100104031