Does the c.-273T>C variant in the upstream region of the HBB gene cause a thalassemia phenotype?

Hassan Dastsooz; Mohsen Alipour; Sanaz Mohammadi; Fatemeh Dehghanian; Fatemeh Kamgarpour; Majid Fardaei

doi:10.5045/br.2017.52.4.332

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Letter to the Editor

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Blood Res 2017; 52(4):

Published online December 31, 2017

https://doi.org/10.5045/br.2017.52.4.332

Does the c.-273T>C variant in the upstream region of the HBB gene cause a thalassemia phenotype?

Hassan Dastsooz¹, Mohsen Alipour¹, Sanaz Mohammadi¹, Fatemeh Dehghanian¹, Fatemeh Kamgarpour¹, and Majid Fardaei^1,2*

Author Info. +

¹Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.

²Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.

Correspondence to : Majid Fardaei. Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Fars 7134853185, Iran. mfardaei@sums.ac.ir

Received: March 12, 2017; Revised: April 4, 2017; Accepted: June 15, 2017

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

TABLES

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TABLES
REFERENCES

Table. 1.

Table 1 Laboratory findings and identified variants in HBB and HBA1.

^a)α2 Poly A-2: AATAAA>AATGAA

Abbreviations: F, female; Het, Heterozygous; Hom, Homozygous; M, male.

REFERENCES

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TABLES
REFERENCES

Rachmilewitz, EA, Giardina, PJ. How I treat thalassemia. Blood, 2011;118;3479-3488.
Galanello, R, Sanna, S, Perseu, L, et al. Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood, 2009;114;3935-3937.
Taher, A, Isma'eel, H, Cappellini, MD. Thalassemia intermedia: revisited. Blood Cells Mol Dis, 2006;37;12-20.
Huehns, ER, Dance, N, Beaven, GH, Heclht, F, Motulsky, AG. Human embryonic hemoglobins. Cold Spring Harb Symp Quant Biol, 1964;29;327-331.
Villegas, A, Ropero, P, González, FA, Anguita, E, Espinós, D. The thalassemia syndromes: molecular characterization in the Spanish population. Hemoglobin, 2001;25;273-283.
Nadkarni, A, Gorakshakar, AC, Lu, CY, et al. Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians. Am J Hematol, 2001;68;75-80.
Rund, D, Rachmilewitz, E. Beta-thalassemia. N Engl J Med, 2005;353;1135-1146.
Schechter, AN. Hemoglobin research and the origins of molecular medicine. Blood, 2008;112;3927-3938.
Nagar, R, Sinha, S, Raman, R. Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients. Blood Cells Mol Dis, 2015;55;10-14.

Article

Letter to the Editor

Blood Res 2017; 52(4): 332-334

Published online December 31, 2017 https://doi.org/10.5045/br.2017.52.4.332

Does the c.-273T>C variant in the upstream region of the HBB gene cause a thalassemia phenotype?

Hassan Dastsooz¹, Mohsen Alipour¹, Sanaz Mohammadi¹, Fatemeh Dehghanian¹, Fatemeh Kamgarpour¹, and Majid Fardaei^1,2*

¹Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.

²Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.

Correspondence to:Majid Fardaei. Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Fars 7134853185, Iran. mfardaei@sums.ac.ir

Received: March 12, 2017; Revised: April 4, 2017; Accepted: June 15, 2017

Table 1 . Laboratory findings and identified variants in HBB and HBA1..

^a)α2 Poly A-2: AATAAA>AATGAA.

Abbreviations: F, female; Het, Heterozygous; Hom, Homozygous; M, male..

References

Rachmilewitz, EA, Giardina, PJ. How I treat thalassemia. Blood, 2011;118;3479-3488.
Galanello, R, Sanna, S, Perseu, L, et al. Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood, 2009;114;3935-3937.
Taher, A, Isma'eel, H, Cappellini, MD. Thalassemia intermedia: revisited. Blood Cells Mol Dis, 2006;37;12-20.
Huehns, ER, Dance, N, Beaven, GH, Heclht, F, Motulsky, AG. Human embryonic hemoglobins. Cold Spring Harb Symp Quant Biol, 1964;29;327-331.
Villegas, A, Ropero, P, González, FA, Anguita, E, Espinós, D. The thalassemia syndromes: molecular characterization in the Spanish population. Hemoglobin, 2001;25;273-283.
Nadkarni, A, Gorakshakar, AC, Lu, CY, et al. Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians. Am J Hematol, 2001;68;75-80.
Rund, D, Rachmilewitz, E. Beta-thalassemia. N Engl J Med, 2005;353;1135-1146.
Schechter, AN. Hemoglobin research and the origins of molecular medicine. Blood, 2008;112;3927-3938.
Nagar, R, Sinha, S, Raman, R. Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients. Blood Cells Mol Dis, 2015;55;10-14.