Balkan Journal of Medical Genetics

THE IMPORTANCE OF MOLECULAR BIOLOGICAL ANALYSIS FOR THE LABORATORY DIAGNOSTIC OF HOMOZYGOUS HAEMOGLOBIN MALAY
Bahar R, Zulkafli Z, Zulkeflee RH, Hassan MN, Rahman Wan S Wan Ab, Noor NH M, Ramli M, Hussin A, Abdullah AD, Iberahim S, Abdullah M, Yusoff S M
*Corresponding Author: Dr Zefarina Zulkafli, School of Medical Sciences, Universiti Sains Malaysia, 16150, Kubang Kerian, Kelantan. Email address: zefarinazulkafli@gmail.com
page: 65

DISCUSSION

Hb Malay was first described in 1989, being a β ++ thalassemia phenotype with A → G mutation in codon 19, as detected in this case. 5,6 The prevalence of Hb Malay in the Malaysian population was 5.5%. 7 Homozygous Hb Malay usually presented with an average Hb of 7 to 8g/ dL. Previously, it was reported that there was an increased production of Hb F between 9-25% in cases of homozy- gous Hb Malay and compound heterozygous Hb E/Malay. 6 This was also seen in this case, where the Hb F level in homozygous Hb Malay was 10.6%. Hb Malay (5.5%) was detected in northeast Thailand 8 . To date, many Hb variants have been discovered and can be detected by current screening methods for beta thalassemia; electrophoretic and HPLC methods. However, these techniques still have some limitations. It is because the available screening method is still unable to detect cer- tain Hb variants with neutral substitutions. 6,7 It is difficult to diagnose a variant causing silent β-thalassemia, espe- cially heterozygous Hb Malay because the haematologi- cal parameters and Hb A2 levels remain within a normal range. 9,10 Furthermore, as seen in this case, even though the Hb level is reduced, it is still challenging to confirm homozygous Hb Malay because both HPLC and capillary zone electrophoresis cannot differentiate between Hb A and Hb Malay. Hb Malay migrates as Hb A. 6-10 Therefore, the definitive diagnosis of Hb Malay can only be made via molecular analysis; M-ARMS PCR. Based on this case, the presence of a variant causing silent β-thalassemia should be considered and emphasized in unexplained clinical presentation typical of thalassemia. 6–9 Hence, it is a chal- lenge or difficulty for the hospital or medical centre with no molecular technique facility to diagnose of Hb Malay. The hospital should therefore identify the nearest centre that has this service and send the sample to them for con- firmation. Identification of this variant haemoglobin is important to prevent the birth of β-thalassemia major or intermedia children. Furthermore, for the couples at risk of conceiving a baby with β-thalassemia major or intermedia should be given genetic. 6

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact