Article Sidebar

PDF
Date Published: 27/06/2023
Abstract Views: 230
Views PDF: 237
DOI: https://doi.org/10.51298/vmj.v527i1B.5778
Issue
Vol. 527 No. 1B (2023)
Section
Các bài báo
How to Cite
Nguyễn, T. N. B., Nguyễn, T. T., Nguyễn, T. T. H., Đặng, T. V. H., & Dương, Q. C. (2023). TWO CASES OF RARE COMPOUND HETEROZYGOTE OF HB D-IRAN AND BETA THALASSEMIA IN VIETNAM. Vietnam Medical Journal, 527(1B). https://doi.org/10.51298/vmj.v527i1B.5778

TWO CASES OF RARE COMPOUND HETEROZYGOTE OF HB D-IRAN AND BETA THALASSEMIA IN VIETNAM

Thanh Ngọc Bình Nguyễn1,, Thùy Trang Nguyễn1, Thị Thu Hà Nguyễn1, Thị Vân Hồng Đặng1, Quốc Chính Dương1
1 NATIONAL INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION

Main Article Content

Abstract

The present report describes the hematologic and molecular study of two cases of Hb D(Iran) associated with β0 thalassemia (CD17) found in Vietnam. The patients showed hypochromic, microcytic red cell picture with reduced red cell indices. The characterization of the hemoglobinopathy was made by electrophoretic and chromatographic techniques and confirmed by sequencing of the beta-globin gene. Both patients were found to be carriers of the gene for β0 thalassemia (c.52A>T (p. Lys18Ter) as seen by the polymerase chain reaction (PCR) and Sanger Sequencing. Single base substitution GAA > CAA (indicative of Hb D-Iran in the heterozygous form was seen in the patients as well as the mother by sequencing.

Article Details

Keywords

HbD- Iran, Beta Thalassemia

References

Rahbar S. Haemoglobin D Iran: 2 22 glutamic acid leads to glutamine (B4). Br J Haematol. 1973;24(1):31-35. doi:10.1111/j.1365-2141. 1973.tb05724.x
2. Transcript #00000017 (NM_000518.4, HBB gene) - Global Variome shared LOVD. Accessed May 18, 2023. https://databases.lovd.nl/shared/transcripts/00000017#object_id=HBB&order=effect%2CDESC&search_transcriptid=00000017&search_VariantOnTranscript/DNA=C.68&page_size=100&page=1
3. Dass J, Gupta A, Mittal S, Saraf A, Langer S, Bhargava M. Comparison of the characteristics of two hemoglobin variants, Hb D-Iran and Hb E, eluting in the Hb A2 window. Blood Res. 2017;52(2):130-134. doi:10.5045/br.2017.52.2.130
4. Ashtiani MTH, Monajemzadeh M, Sina AH, et al. Prevalence of haemoglobinopathies in 34,030 healthy adults in Tehran, Iran. J Clin Pathol. 2009; 62(10):924-925. doi:10.1136/jcp.2009.064568
5. Sachdev R, Dam AR, Tyagi G. Detection of Hb variants and hemoglobinopathies in Indian population using HPLC: report of 2600 cases. Indian J Pathol Microbiol. 2010;53(1):57-62. doi:10.4103/0377-4929.59185
6. Agrawal MG, Bhanushali AA, Dedhia P, et al. Compound heterozygosity of Hb D(Iran) (beta(22) Glu-->Gln) and beta(0)-thalassemia (619 bp-deletion) in India. Eur J Haematol. 2007; 79(3): 248-250. doi:10.1111/j.1600-0609.2007.00896.x
7. Mohanty PK, Meher S, Dehury S, et al. Compound heterozygote of Hb DIran [HBB: c.67G>C, β 22(B4) Glu>Gln] with β0-thalassemia [cds 41/42 (-CTTT)] from Eastern India. Hematol Transfus Cell Ther. 2018;40(1):82-85. doi:10.1016/j.bjhh.2017.09.001