Challenges in prenatal diagnosis of beta thalassaemia: couples with normal HbA2 in one partner

To undertake β‐genotyping in couples having normal/borderline HbA2 levels in one partner to offer the possibility of prenatal diagnosis of thalassaemia.

[1]  S. Vaniawala,et al.  β-Thalassemia Mutations in Western India: Outcome of Prenatal Diagnosis in a Hemoglobinopathies Project , 2014, Hemoglobin.

[2]  S. Sharma,et al.  Interaction of Iron Deficiency Anemia and Hemoglobinopathies Among College Students and Pregnant Women: A Multi Center Evaluation in India , 2014, Hemoglobin.

[3]  K. Ghosh,et al.  Masking of a β-Thalassemia Determinant by a Novel δ-Globin Gene Defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301C>T] in Cis , 2014, Hemoglobin.

[4]  S. Sharma,et al.  Prevalence of Iron Deficiency in Thalassemia Minor , 2014, Indian Journal of Hematology and Blood Transfusion.

[5]  K. Ghosh,et al.  Compromising for carrier detection of beta thalassemia based on measurement of HbA2 levels in unusual cases. , 2012, Clinica chimica acta; international journal of clinical chemistry.

[6]  K. Ghosh,et al.  Is the Poly A (T>C) Mutation a Causative Factor For Misdiagnosis in Second Trimester Prenatal Diagnosis of β-Thalassemia by Fetal Blood Analysis on High Performance Liquid Chromatography? , 2012, Hemoglobin.

[7]  R. Saxena,et al.  β-Thalassemia mutations in subjects with borderline HbA2 values: a pilot study in North India , 2011, Clinical chemistry and laboratory medicine.

[8]  M. Bellgard,et al.  Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes , 2009, The HUGO Journal.

[9]  S. Sharma,et al.  Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India , 2010, Indian journal of human genetics.

[10]  D. Mohanty,et al.  Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. , 2009, Blood cells, molecules & diseases.

[11]  A. Maggio,et al.  Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of β-thalassemia , 2008, Haematologica.

[12]  A. Mosca,et al.  New analytical tools and epidemiological data for the identification of HbA2 borderline subjects in the screening for beta-thalassemia. , 2008, Bioelectrochemistry.

[13]  S. Thein,et al.  The Molecular Pathology of the Thalassaemias , 2008 .

[14]  G. Garewal,et al.  The clinical significance of the spectrum of interactions of CAP+1 (A→C), a silent β‐globin gene mutation, with other β‐thalassemia mutations and globin gene modifiers in north Indians , 2007, European journal of haematology.

[15]  R. Saxena,et al.  Jaundice and alpha gene triplication in beta-thalassemia: Association or causation? , 2006, Hematology.

[16]  Agarwal Mb.  The burden of haemoglobinopathies in India--time to wake up? , 2005 .

[17]  M. Agarwal.  The burden of haemoglobinopathies in India--time to wake up? , 2005, The Journal of the Association of Physicians of India.

[18]  P. Low,et al.  A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. , 2001, Blood.

[19]  A. Cao,et al.  Genotype of subjects with borderline hemoglobin A2 levels: Implication for, β‐thalassemia carrier screening , 1994 .