Prenatal diagnosis of a rare β‐thalassemia gene －90 (C>T) (HBB: c.‐140 C>T) mutation associated with deletional Hb H disease (‐‐SEA/‐α 4.2)

Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with a rare β‐thalassemia.

[1]  M. Cappellini,et al.  β-Thalassemias. , 2021, The New England journal of medicine.

[2]  Dongzhi Li,et al.  Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients , 2018, Hemoglobin.

[3]  Pingsen Zhao,et al.  Molecular Spectrum of α- and β-Thalassemia Mutations in a Large Ethnic Hakka Population in Southern China , 2018, Hemoglobin.

[4]  S. Thein.  Molecular basis of β thalassemia and potential therapeutic targets. , 2017, Blood cells, molecules & diseases.

[5]  Shaoke Chen,et al.  Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China. , 2017, Gene.

[6]  S. Ben-Dor,et al.  Molecular diagnosis of α‐thalassemia in a multiethnic population , 2017, European journal of haematology.

[7]  A. Barrett,et al.  Thalassaemia screening and confirmation of carriers in parents. , 2017, Best practice & research. Clinical obstetrics & gynaecology.

[8]  T. Zarei,et al.  A Number of Cases in Iran Presenting with Coinheritance of Hemoglobin-H Disease and Beta-Thalassemia Minor , 2016, Hemoglobin.

[9]  Qi-zhi Xiao,et al.  [Screening and molecular diagnosis for a rare genotype of beta-thalassemia intermedia]. , 2016, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[10]  D. Rund.  Thalassemia 2016: Modern medicine battles an ancient disease , 2016, American journal of hematology.

[11]  G. Fucharoen,et al.  Molecular Characterization of a β-Thalassemia Intermedia Patient Presenting Inferior Vena Cava Thrombosis: Interaction of the β-Globin Erythroid Krüppel-Like Factor Binding Site Mutation with Hb E and α+-Thalassemia , 2014, Hemoglobin.

[12]  X. Zhou,et al.  Co‐inherited β‐thalassemia trait and HbH disease: clinical characteristics and interference in diagnosis of thalassemia by high‐performance liquid chromatography , 2012, International journal of laboratory hematology.

[13]  T. Moatter,et al.  Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population , 2012, International Journal of Hematology.

[14]  V. Sankaran,et al.  Thalassemia: an overview of 50 years of clinical research. , 2010, Hematology/oncology clinics of North America.

[15]  D. Weatherall.  Thalassemia as a global health problem: recent progress toward its control in the developing countries , 2010, Annals of the New York Academy of Sciences.

[16]  Raffaella Origa,et al.  BETA THALASSEMIA , 2018, The Professional Medical Journal.

[17]  D. Mohanty,et al.  Detection of two rare β -thalassemia mutations [-90 (C ® T) and CD 26 (C ®T)] among Indians , 2005 .

[18]  G. Luo,et al.  The prevalence and spectrum of α and β thalassaemia in Guangdong Province: implications for the future health burden and population screening , 2004, Journal of Clinical Pathology.

[19]  J. Lavinha,et al.  Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population , 1992, Human Genetics.

[20]  V. Chan,et al.  Hemoglobin H disease: not necessarily a benign disorder. , 2003, Blood.

[21]  Xiangmin Xu,et al.  A rare beta-thalassaemia mutation (C-T) at position -90 of the beta-globin gene discovered in a Chinese family. , 2003, Haematologica.

[22]  D. J. Weatherall,et al.  Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemias , 2001, Nature Reviews Genetics.

[23]  J. Lavinha,et al.  beta-Thalassemia mutation at -90C-->T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors. , 1996, Blood.

[24]  R. Myers,et al.  Fine structure genetic analysis of a beta-globin promoter. , 1986, Science.

[25]  S. Huang,et al.  α-GLOBIN GENE ORGANISATION AND PRENATAL DIAGNOSIS OF α-THALASSAEMIA IN CHINESE , 1985, The Lancet.

[26]  S. Huang,et al.  Alpha-globin gene organisation and prenatal diagnosis of alpha-thalassaemia in Chinese. , 1985, Lancet.