Volume 9, Issue 3 (9-2021)                   Jorjani Biomed J 2021, 9(3): 61-68 | Back to browse issues page

XML Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Afshin F, Valizadeh M, Moradpoor R, Damandan M, Amani F. Detection of Hb Bart's and Hb H Diseases Caused by -α3.7 Prevalent Deletion Using Capillary Electrophoresis in Ardabil Province. Jorjani Biomed J. 2021; 9 (3) :61-68
URL: http://goums.ac.ir/jorjanijournal/article-1-827-en.html
1- Pediatric Hematology and Oncology Department, Ardabil University of Medical Science, Ardabil, Iran
2- Unit of Genomics Research, Digestive Diseases Research Center, Ardabil University of Medical Sciences, Ardabil, Iran , mehdi_valizadeh65@yahoo.com
3- Center for Cell Pathology Research, Department of Life Science, Khazar University, Baku, Azerbaijan
4- Department of Community Medicine, Ardabil University of Medical Science, Ardabil, Iran
Abstract:   (476 Views)
Background and Objective: Alpha-thalassemia (α-thal) appears to be the most common monogenic disorder worldwide. The diagnosis of α-thalassemia depends on the detection of Hemoglobin Bart (Hb Bart's) in newborns, which indicates one or more defective or absent α-globin genes. In addition, in patients with Hemoglobin H (Hb H), the Hb H range usually varies between 7-10 g / dL. Therefore, tracking Hb Bart's and Hb H can be useful in diagnosing thalassemia α. This study was performed to evaluate Hb Bart's and Hb H in infants with α thalassemia in Ardabil province, northwestern Iran.
Material and Methods: In this cross-sectional descriptive study, 33 infants with alpha thalassemia mutation, including infants born in Ardabil province, Iran in the years 2020 to 2019. Hemoglobin analysis was performed by capillary electrophoresis system.
Results: Hb H and Hb Bart's were detected in only two cases (6%) and three cases (9%). In this study, only 5 patients (15.15) were observable by detection of Hb Bart's and Hb H levels by electrophoresis. In cases of Hb Bart disease, -α3.7 was the most common genotype. Therefore, most infants with alpha thalassemia were lost when electrophoresis alone was used.
Conclusion: This study showed that molecular analysis of Hb Bart's newborns is necessary to confirm α-thalassemia. Capillary electrophoresis is a way to prevent the diagnosis of rare Hb H and Bart's disease.
Full-Text [PDF 536 kb]   (111 Downloads) |   |   Full-Text (HTML)  (43 Views)  
Type of Article: Original article | Subject: Molecular Sciences
Received: 2021/04/24 | Accepted: 2021/09/11 | Published: 2021/09/29

1. Widyastiti, N.S., Nainggolan, I.M., Kurnia, E.L., Retnoningrum, D., Budiwiyono, I. 2019. A rare case of Hb H disease caused by compound heterozygous for α thalasemia and Hb Quong Sze in Chinese Indonesian proband: A case report. Bali Medical Journal 8(2): 333-336. [view at publisher] [DOI] [Google Scholar]
2. Hafiza Alauddin MBBS M, Mustafa Langa MBBS M, Sabudin RZ, Azlin Ithnin MBBchBAO M. Detection of α-thalassaemia in neonates on cord blood and dried blood spot samples by capillary electrophoresis. The Malaysian journal of pathology. 2017 Apr 1; 39(1):17. [Google Scholar]
3. Valaei A, Karimipoor M, Kordafshari A, Zeinali S. Molecular Basis of α-Thalassemia in Iran. Iran Biomed J. 2018 Jan 1; 22(1):6-14. [view at publisher] [Google Scholar]
4. Nasiri A, Rahimi Z, Vaisi-Raygani A. Hemoglobinopathies in Iran: An Updated Review. Int J Hematol Oncol Stem Cell Res. 2020; 14(2):140-150. [view at publisher] [DOI] [PMID] [PMCID] [Google Scholar]
5. Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018; 391(10116):155-67. [view at publisher] [DOI] [Google Scholar]
6. Wu MY, Xie XM, Li J, Li DZ. Neonatal screening for α‐thalassemia by cord hemoglobin Barts: how effective is it ?. International journal of laboratory hematology. 2015 Oct; 37(5):649-53. [view at publisher] [DOI] [PMID] [Google Scholar]
7. Vichinsky EP. Changing patterns of thalassemia worldwide. Annals of the New York Academy of Sciences. 2005 Nov; 1054(1):18-24. [view at publisher] [DOI] [PMID] [Google Scholar]
8. Charoenkwan P, Taweephol R, Sirichotiyakul S, Tantiprabha W, Sae-Tung R, Suanta S, Sakdasirisathaporn P, Sanguansermsri T. Cord blood screening for α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters. Blood Cells, Molecules, and Diseases. 2010 Jun 15; 45(1):53-7. [view at publisher] [DOI] [PMID] [Google Scholar]
9. Keikhaei B, Galehdari H, Mohammadpour M, Hamed M. Heterozygote Hemoglobin J Iran in Combination with Hemoglobin H Disease. IJBC. 2012; 4 (3) : 143-146 [view at publisher] [Google Scholar]
10. Ünal S, Oktay G, Acıpayam C, İlhan G, Gali E, Celkan T, Bay A, Malbora B, Akar N, Oymak Y, Toptaş T. Hemoglobin H Disease in Turkey: Experience from Eight Centers. Turkish Journal of Hematology. 2016 Mar; 33(1):56. [view at publisher] [DOI] [PMID] [PMCID] [Google Scholar]
11. Fucharoen S, Viprakasit V. Hb H disease: clinical course and disease modifiers. ASH Education Program Book. 2009 Jan 1; 2009(1):26-34. [view at publisher] [DOI] [PMID] [Google Scholar]
12. Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL. Codon 24 (TA T> TA G) and codon 32 (AT G> AGG)(Hb Rotterdam): two novel α2 gene mutations associated with mild α-thalassemia found in the same family after newborn screening. Hemoglobin. 2010 Aug 1; 34(4):354-65. [view at publisher] [DOI] [PMID] [Google Scholar]
13. Rugless MJ, Fisher CA, Stephens AD, Amos RJ, Mohammed T, Old JM. Hb Bart's in cord blood: an accurate indicator of a-thalassemia. Hemoglobin 2006; 30:57-62. [view at publisher] [DOI] [PMID] [Google Scholar]
14. Nusrat M, Moiz B, Nasir A. et al. An insight into the suspected HbA2' cases detected by high performance liquid chromatography in Pakistan. BMC Res Notes. 2011; 4, 103. [view at publisher] [DOI] [PMID] [PMCID] [Google Scholar]
15. Huang H, Xu L, Chen M. et al. Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China. Sci Rep. 2019; 9: 3493. [view at publisher] [DOI] [PMID] [PMCID] [Google Scholar]
16. Frömmel C. Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods-Isoelectric Focusing, HPLC, and Capillary Electrophoresis. International Journal of Neonatal Screening. 2018; 4(4):39. [view at publisher] [DOI] [PMID] [PMCID] [Google Scholar]
17. Huang Q, Wang X, Tang N, Yan T, Chen P, Li Q. Simultaneous Genotyping of α Thalassemia Deletional and Non deletional Mutations by Real-Time PCR-Based Multicolor Melting Curve Analysis. The Journal of Molecular Diagnostics. 2017 Jul 1; 19(4):567-74. [view at publisher] [DOI] [PMID] [Google Scholar]
18. Michlitsch J, Azimi M, Hoppe C, Walters MC, Lubin B, Lorey F, Vichinsky E. Newborn screening for hemoglobinopathies in California. Pediatric blood & cancer. 2009 Apr; 52(4):486-90. [view at publisher] [DOI] [PMID] [PMCID] [Google Scholar]
19. Padilla CD, Therrell BL Jr, Alcausin MMLB, de Castro RC Jr, Gepte MBP, Reyes MEL, Jomento CM, Suarez RCN, Maceda EBG, Abarquez CG, Posecion JEWC, Andal AP, Elizaga ALG, Halili-Mendoza BC, Otayza MPVK, Hoppe CC. Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines. International Journal of Neonatal Screening. 2021; 7(2):30. [view at publisher] [DOI] [PMID] [PMCID] [Google Scholar]
20. Harteveld CL, Higgs DR. α-thalassaemia. Orphanet journal of rare diseases. 2010 Dec; 5(1):13. [view at publisher] [DOI] [PMID] [PMCID] [Google Scholar]
21. Mosca A, Paleari R, Ivaldi G, Galanello R, Giordano PC. The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies. Journal of Clinical Pathology. 2009 Jan 1; 62(1):13-7. [view at publisher] [DOI] [PMID] [Google Scholar]
22. Higgins T, Mack M, Khajuria A. Comparison of two methods for the quantification and identification of hemoglobin variants. Clin Biochem 2009; 42:701-5. [DOI] [PMID]
23. Upadhye D.S, Jain D.L, Trivedi Y.L, Nadkarni A.H, Ghosh K, Colah R.B. Newborn screening for haemoglobinopathies by high performance liquid chromatography (HPLC): Diagnostic utility of different approaches in resource-poor settings. Clin. Chem. Lab. Med. 2014, 52, 1791-1796. [view at publisher] [DOI] [PMID] [Google Scholar]
24. Munkongdee T, Pichanun D, Butthep P, Klamchuen S, Chalermpolprapa V, Winichagoon P, Svasti S, Fucharoen S. Quantitative analysis of Hb Bart's in cord blood by capillary electrophoresis system. Ann Hematol. 2011; 90:741-6. [view at publisher] [DOI] [PMID] [Google Scholar]
25. Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannopoulos G, Kan YW. Triplicated aglobin loci in humans. Proc Natl Acad Sci U S A. 1980; 77:518-21. [view at publisher] [DOI] [PMID] [PMCID] [Google Scholar]
26. Afshin Fathi, Mahshid Damandan, Mehdi Valizadeh, Yadolah Farshi, Rouhallah Moradpour. Prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province. Electronic Physician. April-June 2020; Volume: 12, Issue: 2, Pages: 7703-7707. [view at publisher] [DOI] [Google Scholar]
27. Derakhshan SM, Khaniani MS, Afkhami F, PourFeizi AH. Molecular Study of Deletional and Nondeletional Mutations on the α-Globin Locus in the Azeri Population of Northwestern Iran. Hemoglobin. 2016 Sep; 40(5):319-322. [view at publisher] [DOI] [PMID] [Google Scholar]
28. Ebrahimi, M., Mohammadi-asl, J. & Rahim, F. Molecular spectrum and distribution of hemoglobinopathies in southwest of Iran: a seven-year retrospective study. J Hematopathol. 2020; 13, 97-103. [DOI] [Google Scholar]

Add your comments about this article : Your username or Email:

Send email to the article author

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2021 CC BY-NC 4.0 | Jorjani Biomedicine Journal

Designed & Developed by : Yektaweb