Diverse phenotypes and transfusion requirements due to interaction of β-thalassemias with triplicated α-globin genes

Annals of Hematology
Pallavi R MehtaR Colah

Abstract

Co-inheritance of triplicated α-genes can alter the clinical and hematological phenotypes of β-thalassemias. We evaluated the phenotypic diversity and transfusion requirements in β-thalassemia heterozygotes, homozygotes, and normal individuals with associated α-gene triplication. Clinical and hematological evaluation was done and the β-thalassemia mutations characterized by a covalent reverse dot blot hybridization/amplification refractory mutation system. Alpha-globin gene triplication was assessed by multiplex PCR. During the last 2.5 years, 181 β-thalassemia patients and β-thalassemia carriers with an unusual clinical presentation were referred to us for screening for the presence of associated α-globin gene triplication. Twenty-nine of them had associated α-gene triplication (3 β-thalassemia homozygotes or compound heterozygotes and 26 β-thalassemia heterozygotes). One β-thalassemia compound heterozygote [IVS 1-5 (G → C) + CD 41/42 (-CTTT)] was anemic at birth and required blood transfusions unusually early by 6 weeks of age. The second patient (4.5 years) was also clinically severe and became transfusion dependent in spite of having one mild β-thalassemia mutation [Capsite +1 (A → C)]. The third case (3.5 years) who was ho...Continue Reading

References

Jan 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·M GoossensY W Kan
May 11, 2006·Expert Reviews in Molecular Medicine·Fabrizia UrbinatiPunam Malik
Jan 25, 2007·Clinical Chemistry and Laboratory Medicine : CCLM·Renata PaleariUNKNOWN IFCC Working Group Standardization of HbA2
Aug 5, 2011·Blood·Eliezer A Rachmilewitz, Patricia J Giardina
Jul 5, 2012·Cold Spring Harbor Perspectives in Medicine·Khaled M MusallamEliezer A Rachmilewitz
Jun 5, 2013·Haematologica·Khaled M MusallamEliezer A Rachmilewitz

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Citations

Jul 2, 2017·Cold Spring Harbor Molecular Case Studies·Orna Steinberg-ShemerHannah Tamary
Nov 30, 2018·International Journal of Laboratory Hematology·Anita H NadkarniRoshan B Colah
May 16, 2020·International Journal of Laboratory Hematology·Pallavi MehtaMalay B Mukherjee
Apr 1, 2021·Journal of Genetic Counseling·Lauren J IsleyJaime Shamonki

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