Advanced search
Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 3
Submit an article Journal homepage
226
Views
7
CrossRef citations to date
0
Altmetric
Original Articles

Genotype-Phenotype Correlation of β-Thalassemia in Malaysian Population: Toward Effective Genetic Counseling

Uday Y. H. AbdullahDepartment of Pathology, Faculty of Medicine, Universiti Sultan Zainal Abidin, Kuala Terengganu, Malaysia; Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0002-8656-3407View further author information
ORCID Icon,
Hishamshah M. IbrahimPaediatric Haematology, Oncology and Haemopoietic Stem Cell Transplant Unit, Hospital Kuala Lumpur (HKL) Jalan Pahang, Kuala Lumpur, Malaysia; View further author information
,
Noraesah Binti MahmudDepartment of Pathology, Hospital Kuala Lumpur (HKL) Jalan Pahang, Kuala Lumpur, Malaysia; View further author information
,
Mohamad Zaki SallehIntegrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi Mara (UiTM), Bandar Puncak Alam, Malaysia; ORCID Iconhttp://orcid.org/0000-0001-9882-0661View further author information
ORCID Icon,
Lay Kek TehIntegrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi Mara (UiTM), Bandar Puncak Alam, Malaysia; ORCID Iconhttp://orcid.org/0000-0002-2830-4263View further author information
ORCID Icon,
Mohd Nur Fakhruzzaman bin NoorizhabIntegrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi Mara (UiTM), Bandar Puncak Alam, Malaysia; View further author information
,
Bin Alwi ZilfalilDepartment of Paediatric, School of Medical Science, Health Campus, Univesiti Sains Malaysia (USM), Kelantan, Malaysia; View further author information
,
Haitham Muhammed JassimDepartment of Emergency, Rockingham Peel Group, South Metropolitan Health Service, Rockingham, Australia; View further author information
,
Prapin WilairatNational Doping Control Centre, Mahidol University, Bangkok, Thailand; View further author information
&
Suthat FucharoenThalassaemia Research Centre, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, ThailandORCID Iconhttp://orcid.org/0000-0001-6219-9711View further author information
ORCID Icon show all
Pages 184-189 | Received 31 Jul 2019, Accepted 23 Apr 2020, Published online: 26 Jun 2020

References

  • Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018;391(10116):155–167.
  • Premawardhena A, Fisher CA, Olivieri NF, et al. Haemoglobin E β thalassaemia in Sri Lanka. Lancet. 2005;366(9495):1467–1470.
  • George E, Ann TJ. Genotype-phenotype diversity of β-thalassemia in Malaysia: treatment options and emerging therapies. Med J Malaysia. 2010;65(4):256–260.
  • Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069 (http://globin.cse.psu.edu/).
  • Clark BE, Thein SL. Molecular diagnosis of haemoglobin disorders. Clin Lab Haematol. 2004;26(3):159–176.
  • Forget BG. Molecular genetics of human hemoglobin synthesis. Ann Intern Med. 1979;91(4):605–616.
  • Weatherall DJ. The definition and epidemiology of non-transfusion-dependent thalassemia. Blood Rev. 2012;26:S3–S6.
  • Yu X, Kong Y, Dore LC, et al. An erythroid chaperone that facilitates folding of α-globin subunits for hemoglobin synthesis. J Clin Invest. 2007;117(7):1856–1865.
  • Vasseur-Godbillon C, Hamdane D, Marden MC, et al. High-yield expression in Escherichia coli of soluble human α-hemoglobin complexed with its molecular chaperone. Protein Eng Des Sel. 2006;19(3):91–97.
  • Fucharoen S, Winichagoon P. Clinical hematologic aspects of Hemoglobin E β-thalassemia. Curr Opin Hematol. 2000;7(2):106–112.
  • Kihm AJ, Kong Y, Hong W, et al. An abundant erythroid protein that stabilizes free α-haemoglobin. Nature. 2002;417(6890):758–763.
  • Thein SL. Molecular basis of β thalassemia and potential therapeutic targets. Blood Cells Mol Dis. 2018;70:54–65.
  • Fucharoen S, Weatherall DJ. The Hemoglobin E thalassemias. Cold Spring Harb Perspect Med. 2012;2(8): a011734.
  • Sangkitporn SK, Eksiri L, Sangnoi A, et al. Identification of β-globin gene mutations in Thailand using an automated fluorescence-based DNA sequencer. Int J Lab Hematol. 2009;31(5):521–527.
  • Wong LP, Ong RT, Poh T, et al. Deep whole-genome sequencing of 100 Southeast Asian Malays. Am J Hum Genet. 2013;92(1):52–66.
  • Sripichai O, Makarasara W, Munkongdee T, et al. A scoring system for the classification of β-thalassemia/Hb E disease severity. Am J Hematol. 2008;83(6):482–484.
  • Okonechnikov K, Golosova O, Fursov M, The UGENE Team. Unipro UGENE: a unified bioinformatics toolkit. Bioinformatics. 2012;28(8):1166–1167.
  • Viprakasit V, Tyan P, Rodmai S, et al. Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised condition. Orphanet J Rare Dis. 2014;9:131.
  • Taher AT, Cappellini MD. How I manage medical complications of β-thalassemia in adults. Blood. 2018;132(17):1781–1791.
  • Schwartz E. The silent carrier of β-thalassemia. N Engl J Med. 1969;281(24):1327–1333.
  • Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harb Perspect Med. 2013;3(2):a011775.
  • Cousens NE, Gaff CL, Metcalfe SA, et al. Carrier screening for β-thalassaemia: a review of international practice. Eur J Hum Genet. 2010;18(10):1077–1083.
  • Abdullah UYH, Ibrahim HM, Jassim HM, et al. Relative proteome quantification of a, b, g and d globin chains in early eluting peaks of Bio-Rad variant II® CE-HPLC of hemoglobin from healthy and β-thalassemia subjects in Malaysia. Biochem Biophys Rep. 2019;18:100635.
  • Pantaleo A, Giribaldi G, Mannu F, et al. Naturally occurring anti-band 3 antibodies and red blood cell removal under physiological and pathological conditions. Autoimmun Rev. 2008;7(6):457–462.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.