+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA 2 Levels on Capillary Electrophoresis



Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA 2 Levels on Capillary Electrophoresis



Indian Journal of Hematology and Blood Transfusion 34(1): 110-114



A misdiagnosis of β-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the β-variants, can be a cause of inappropriate genetic counseling thus having a new case of β-thalassemia major. A capillary electrophoresis (CE) is very efficient in separating and quantifying HbA2. In this study, HbA2 levels of samples which were doubted for compound heterozygous Hb Tak/β-thalassemia or heterozygous HbD-Punjab/β-thalassemia were measured and compared between CE and high performance liquid chromatography (HPLC). The molecular confirmation for Hb Tak, HbD-Punjab and β-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A) and IVSI-nt1 (G > T) mutations and 3.4 kb deletion were also performed. Based on DNA analysis, 3 cases were diagnosed as compound heterozygous Hb Tak/β-thalassemia and one for HbD-Punjab/β-thalassemia. The elevated HbA2 levels were found in all 4 samples with rages of 4.6-7.3% on CE while those were not found on HPLC. Thus, the elevated HbA2 measured by CE can be used as a screening parameter for differentiating the homozygote of Hb Tak and HbD-Punjab from the compound heterozygote of these hemoglobinopathies and β-thalassemia.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 058211606

Download citation: RISBibTeXText

PMID: 29398808

DOI: 10.1007/s12288-017-0810-3


Related references

Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia. Annals of Hematology 66(1): 51-54, 1993

A new form of thalassemia intermedia: Compound heterozygous beta thalassemia and hemoglobin Zurich. Pediatric Blood and Cancer 66(6): E27720, 2019

Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletion. Hemoglobin 34(5): 505-508, 2010

Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)(0)-thalassemia in eastern India. Revista Brasileira de Hematologia e Hemoterapia 37(3): 202-206, 2015

Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype. Hemoglobin 40(5): 361-364, 2016

Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: Challenges in hemoglobin analysis and clinical diagnosis. Genes & Genetic Systems 84(1): 67-71, 2009

Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: challenges in hemoglobin analysis and clinical diagnosis. Genes and Genetic Systems 84(1): 67-71, 2009

Fast and sensitive diagnosis of thalassemia by capillary electrophoresis. Analytical and Bioanalytical Chemistry 379(3): 404-410, 2004

Comparison of capillary electrophoregram among heterozygous Hb Hope, Hb Hope/α-thalassemia-1 SEA type deletion and Hb Hope/β(0)-thalassemia. Clinical Chemistry and Laboratory Medicine 50(9): 1625-1629, 2012

Prenatal diagnosis of beta-thalassemia by chip-based capillary electrophoresis. Prenatal Diagnosis 28(3): 222-229, 2008

Interference of hemoglobin Hope on β-thalassemia: diagnosis by the capillary electrophoresis method. American Journal of Clinical Pathology 137(3): 499-500, 2012

Diagnosis of a rare double heterozygous Hb D Punjab/Hb Q India hemoglobinopathy using Sebia capillary zone electrophoresis. Indian Journal of Pathology and Microbiology 57(4): 626-628, 2015

Simultaneous PCR detection of beta - thalassemia and alpha - thalassemia 1 (SEA type) in prenatal diagnosis of complex thalassemia syndrome. Clinical Biochemistry 34(5): 377-380, 2001

Interference of hemoglobin Hope on beta-thalassemia diagnosis by the capillary electrophoresis Method. American Journal of Clinical Pathology 136(1): 14-18, 2011

Thalassemia Intermedia Caused by 16p13.3 Sectional Duplication in a β-Thalassemia Heterozygous Child. Pediatric Hematology and Oncology 32(5): 349-353, 2015