Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Indian Journal of Hematology and Blood Transfusion
Published in: Indian Journal of Hematology and Blood Transfusion 1/2018

01-01-2018 | Original Article

Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis

Authors: Sitthichai Panyasai, Supachai Sakkhachornphop, Sakorn Pornprasert

Published in: Indian Journal of Hematology and Blood Transfusion | Issue 1/2018

Login to get access

Abstract

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.
Literature
1.
Giardine B, Borg J, Viennas E et al (2014) Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res 42:D1063–D1069CrossRefPubMed
2.
Belhoul KM, Bakir ML, Abdulrahman M (2013) Misdiagnosis of Hb D-Punjab/beta-thalassemia is a potential pitfall in hemoglobinopathy screening programs: a case report. Hemoglobin 37(2):119–123CrossRefPubMed
3.
Van Delft P, Lenters E, Bakker-Verweij M et al (2009) Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations. Int J Lab Hematol 31(5):484–495CrossRefPubMed
4.
Keren DF, Hedstrom D, Gulbranson R et al (2008) Comparison of Sebia Capillarys capillary electrophoresis with the Primus high-pressure liquid chromatography in the evaluation of hemoglobinopathies. Am J Clin Pathol 130(5):824–831CrossRefPubMed
5.
Pornprasert S, Phusua A, Suanta S et al (2008) Detection of alpha-thalassemia-1 Southeast Asian type using real-time gap-PCR with SYBR Green1 and high resolution melting analysis. Eur J Haematol 80(6):510–514CrossRefPubMed
6.
Pornprasert S, Punyamung M, Treesuwan K (2013) Criteria for detection of alpha-thalassemia-1 Thai type deletion in routine laboratory. Clin Lab 59(11–12):1423–1427PubMed
7.
Boonsa S, Sanchaisuriya K, Fucharoen G et al (2004) The diverse molecular basis and hematological features of Hb H and AEBart’s diseases in Northeast Thailand. Acta Haematol 111(3):149–154CrossRefPubMed
8.
Fucharoen S, Sanchaisuriya K, Fucharoen G et al (2003) Interaction of hemoglobin E and several forms of alpha-thalassemia in Cambodian families. Haematologica 88(10):1092–1098PubMed
9.
Fucharoen S, Fucharoen G, Sanchaisuriya K et al (2000) Prenatal diagnosis of common severe thalassemia in Thailand: laboratory techniques. J Med Technol Phys Ther 12(2):53–65
10.
Old J, Traeger-Synodinos J, Galanello R et al (2005) Prevention of thalassemias and other haemoglobin disorders. Volume 2: Laboratory methods, 1st edn. Nicosia Team up Creations, Nicosia
11.
Sanchaisuriya K, Chunpanich S, Fucharoen G et al (2004) Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak. Clin Chim Acta 343(1–2):129–134CrossRefPubMed
12.
Tanphaichitr VS, Viprakasit V, Veerakul G et al (2003) Homozygous hemoglobin Tak causes symptomatic secondary polycythemia in a Thai boy. J Pediatr Hematol Oncol 25(3):261–265CrossRefPubMed
13.
Teawtrakul N, Sirijirachai C, Chansung G et al (2010) Compound heterozygous Hb Tak/Hb E causes secondary erythrocytosis in a Thai family. Hemoglobin 34(2):165–168CrossRefPubMed
14.
Fucharoen S, Changtrakun Y, Surapot S et al (2002) Molecular characterization of Hb D-Punjab [beta121(GH4)Glu → Gln] in Thailand. Hemoglobin 26:261–269CrossRefPubMed
15.
Adekile AD, Kazanetz EG, Leonova JY, Marouf R, Khmis A, Huisman TH (1996) Co-inheritance of Hb D-Punjab (codon 121; GAA → CAA) and beta (0)-thalassemia (IVS-II-1; G → A). J Pediatr Hematol Oncol 18:151–153CrossRefPubMed
16.
Taghavi Basmanj M, Karimipoor M, Amirian A et al (2011) Co-inheritance of hemoglobin D and beta-thalassemia traits in three Iranian families: clinical relevance. Arch Iran Med 14:61–63PubMed
17.
Owaidah TM, Al-Saleh MM, Al-Hellani AM (2005) Hemoglobin D/beta-thalassemia and beta-thalassemia major in a Saudi family. Saudi Med J 26:674–677PubMed
18.
Zakerinia M, Ayatollahi M, Rastegar M et al (2011) Hemoglobin D (Hb D Punjab/Los Angeles and Hb D Iran) and co-inheritance with α- and β-thalassemia in southern Iran. Iran Red Crescent Med J 22(7):493–498
19.
Charoenkwan P, Thanarattanakorn P, Chaovaluksakul S (2003) Hematological and molecular characterization of beta-thalassemia/Hb Tak compound heterozygote. Southeast Asian J Trop Med Public Health 34:415–419PubMed
20.
Das S, Mashon RS (2015) Coinheritance of Hb D-Punjab and beta-thalassemia: diagnosis and implications in prenatal diagnosis. Hemoglobin 39:138–140CrossRefPubMed
Metadata
Title
Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis
Authors
Sitthichai Panyasai
Supachai Sakkhachornphop
Sakorn Pornprasert
Publication date
01-01-2018
Publisher
Springer India
Published in
Indian Journal of Hematology and Blood Transfusion / Issue 1/2018
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI
https://doi.org/10.1007/s12288-017-0810-3

Other articles of this Issue 1/2018

Indian Journal of Hematology and Blood Transfusion 1/2018 Go to the issue

Original Article

Neurocognitive Consequences of Childhood Leukemia and Its Treatment

Correspondence

Diagnostic Dilemma in Ambiguous Lineage Acute Leukemia: A Case Report

Correspondence

Leukocyte Cell Population Data Provide Clues for Myelodysplastic Syndrome in a 79-Year-old Male

Review Article

Fertility Management for the Hemato-Oncologist

Original Article

Cost of Treatment of Multiple Myeloma in a Public Sector Tertiary Care Hospital of North India

Correspondence

Ghosal Hemato-diaphyseal Dysplasia: A Rare Variety of Hypoplastic Anemia with Good Response to Steroid Therapy
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine
Image Credits