Multiplex amplification refractory mutation system (MARMA) for the detection of β-globin gene mutations among the transfusion-dependent β-thalassemia Malay patients in Kelantan, Northeast of Peninsular Malaysia

Sarifah Hanafi, Rosline Hassan, Rosnah Bahar, Wan Zaidah Abdullah, Muhammad Farid Johan, Noor Diana Rashid, Nurul Fatihah Azman, Ariffin Nasir, Syahzuwan Hassan, Rahimah Ahmad, Azizah Othman, Mohd Ismail Ibrahim, Surianti Sukeri, Sarina Sulong, Surini Yusoff, Nor Sarwany Mohamad, Adil Hussein, Rozita Hassan, Narazah Yusoff, Badrul Hisyam Yahaya & 4 others Endom Ismail, Nik Khairuddin Nik Yussof, Sinari Salleh, Bin Alwi Zilfalil

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5 Citations (Scopus)

Abstract

The aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95%) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.83%) beta thalassemia alleles. Most of the patients (54.2%) were compound heterozygous with co-inheritance Cd 26 (G>A). The frequencies of spectrum beta chain mutation among these patients are presented in Table 2. Among the transfusion dependent beta thalassemia Malay patients studied, 26 patients were found to be compound heterozygous and the main alleles were Cd 26 (G>A). Compound heterozygous mutation of Cd 26 (G>A) and IVS 1-5 (G>C) were 12 (46.2%), Cd 26 (G>A) and Cd 41/42 (TTCT) were 9 (34.6%), Cd 26 (G>A) and IVS 1-1 (G>C) were 2 (7.7%) respectively. Meanwhile the minority were made of a single compound heterozygous of Cd 26 (G>A) and Cd 71/72, Cd 26 (>A) and Cd 17 (A>T), Cd 26 (G>A) and -28 (G>A) respectively. Twenty out of forty six patients were shown to have homozygous of IVS 1-5 (G>C) were 2 (10.0%), Cd 26 (G>A) were 15 (75.0%), Cd 19 (A>G) were 1 (5.0%), and IVS 1-1 (G>T) were 2 (10.0%). The beta chain mutations among the Kelantanese Malays followed closely the distribution of beta chain mutations among the Thais and the Malays of the Southern Thailand. The G-C transition at position 5 of the IVS 1-5 mutation was predominant among the Malay patients. In conclusion, this method has successfully identified the mutation spectrum in our cohort of transfusion-dependent beta thalassemia patients, and this method is equally effective in screening for mutation among thalassemia patients.

Original languageEnglish
Pages (from-to)33-40
Number of pages8
JournalAmerican Journal of Blood Research
Volume4
Issue number1
Publication statusPublished - 2014

Fingerprint

Thalassemia
Globins
Malaysia
Mutation
Genes
beta-Thalassemia
Alleles
Thailand
Ethnic Groups

Keywords

  • Malay
  • MARMS-PCR
  • Mutation
  • Thalassemia
  • β-globin gene

ASJC Scopus subject areas

  • Hematology
  • Cancer Research
  • Cell Biology
  • Oncology

Cite this

Multiplex amplification refractory mutation system (MARMA) for the detection of β-globin gene mutations among the transfusion-dependent β-thalassemia Malay patients in Kelantan, Northeast of Peninsular Malaysia. / Hanafi, Sarifah; Hassan, Rosline; Bahar, Rosnah; Abdullah, Wan Zaidah; Johan, Muhammad Farid; Rashid, Noor Diana; Azman, Nurul Fatihah; Nasir, Ariffin; Hassan, Syahzuwan; Ahmad, Rahimah; Othman, Azizah; Ibrahim, Mohd Ismail; Sukeri, Surianti; Sulong, Sarina; Yusoff, Surini; Mohamad, Nor Sarwany; Hussein, Adil; Hassan, Rozita; Yusoff, Narazah; Yahaya, Badrul Hisyam; Ismail, Endom; Yussof, Nik Khairuddin Nik; Salleh, Sinari; Zilfalil, Bin Alwi.

In: American Journal of Blood Research, Vol. 4, No. 1, 2014, p. 33-40.

Research output: Contribution to journalArticle

Hanafi, S, Hassan, R, Bahar, R, Abdullah, WZ, Johan, MF, Rashid, ND, Azman, NF, Nasir, A, Hassan, S, Ahmad, R, Othman, A, Ibrahim, MI, Sukeri, S, Sulong, S, Yusoff, S, Mohamad, NS, Hussein, A, Hassan, R, Yusoff, N, Yahaya, BH, Ismail, E, Yussof, NKN, Salleh, S & Zilfalil, BA 2014, 'Multiplex amplification refractory mutation system (MARMA) for the detection of β-globin gene mutations among the transfusion-dependent β-thalassemia Malay patients in Kelantan, Northeast of Peninsular Malaysia', American Journal of Blood Research, vol. 4, no. 1, pp. 33-40.
Hanafi, Sarifah ; Hassan, Rosline ; Bahar, Rosnah ; Abdullah, Wan Zaidah ; Johan, Muhammad Farid ; Rashid, Noor Diana ; Azman, Nurul Fatihah ; Nasir, Ariffin ; Hassan, Syahzuwan ; Ahmad, Rahimah ; Othman, Azizah ; Ibrahim, Mohd Ismail ; Sukeri, Surianti ; Sulong, Sarina ; Yusoff, Surini ; Mohamad, Nor Sarwany ; Hussein, Adil ; Hassan, Rozita ; Yusoff, Narazah ; Yahaya, Badrul Hisyam ; Ismail, Endom ; Yussof, Nik Khairuddin Nik ; Salleh, Sinari ; Zilfalil, Bin Alwi. / Multiplex amplification refractory mutation system (MARMA) for the detection of β-globin gene mutations among the transfusion-dependent β-thalassemia Malay patients in Kelantan, Northeast of Peninsular Malaysia. In: American Journal of Blood Research. 2014 ; Vol. 4, No. 1. pp. 33-40.
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abstract = "The aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95{\%}) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.83{\%}) beta thalassemia alleles. Most of the patients (54.2{\%}) were compound heterozygous with co-inheritance Cd 26 (G>A). The frequencies of spectrum beta chain mutation among these patients are presented in Table 2. Among the transfusion dependent beta thalassemia Malay patients studied, 26 patients were found to be compound heterozygous and the main alleles were Cd 26 (G>A). Compound heterozygous mutation of Cd 26 (G>A) and IVS 1-5 (G>C) were 12 (46.2{\%}), Cd 26 (G>A) and Cd 41/42 (TTCT) were 9 (34.6{\%}), Cd 26 (G>A) and IVS 1-1 (G>C) were 2 (7.7{\%}) respectively. Meanwhile the minority were made of a single compound heterozygous of Cd 26 (G>A) and Cd 71/72, Cd 26 (>A) and Cd 17 (A>T), Cd 26 (G>A) and -28 (G>A) respectively. Twenty out of forty six patients were shown to have homozygous of IVS 1-5 (G>C) were 2 (10.0{\%}), Cd 26 (G>A) were 15 (75.0{\%}), Cd 19 (A>G) were 1 (5.0{\%}), and IVS 1-1 (G>T) were 2 (10.0{\%}). The beta chain mutations among the Kelantanese Malays followed closely the distribution of beta chain mutations among the Thais and the Malays of the Southern Thailand. The G-C transition at position 5 of the IVS 1-5 mutation was predominant among the Malay patients. In conclusion, this method has successfully identified the mutation spectrum in our cohort of transfusion-dependent beta thalassemia patients, and this method is equally effective in screening for mutation among thalassemia patients.",
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T1 - Multiplex amplification refractory mutation system (MARMA) for the detection of β-globin gene mutations among the transfusion-dependent β-thalassemia Malay patients in Kelantan, Northeast of Peninsular Malaysia

AU - Hanafi, Sarifah

AU - Hassan, Rosline

AU - Bahar, Rosnah

AU - Abdullah, Wan Zaidah

AU - Johan, Muhammad Farid

AU - Rashid, Noor Diana

AU - Azman, Nurul Fatihah

AU - Nasir, Ariffin

AU - Hassan, Syahzuwan

AU - Ahmad, Rahimah

AU - Othman, Azizah

AU - Ibrahim, Mohd Ismail

AU - Sukeri, Surianti

AU - Sulong, Sarina

AU - Yusoff, Surini

AU - Mohamad, Nor Sarwany

AU - Hussein, Adil

AU - Hassan, Rozita

AU - Yusoff, Narazah

AU - Yahaya, Badrul Hisyam

AU - Ismail, Endom

AU - Yussof, Nik Khairuddin Nik

AU - Salleh, Sinari

AU - Zilfalil, Bin Alwi

PY - 2014

Y1 - 2014

N2 - The aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95%) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.83%) beta thalassemia alleles. Most of the patients (54.2%) were compound heterozygous with co-inheritance Cd 26 (G>A). The frequencies of spectrum beta chain mutation among these patients are presented in Table 2. Among the transfusion dependent beta thalassemia Malay patients studied, 26 patients were found to be compound heterozygous and the main alleles were Cd 26 (G>A). Compound heterozygous mutation of Cd 26 (G>A) and IVS 1-5 (G>C) were 12 (46.2%), Cd 26 (G>A) and Cd 41/42 (TTCT) were 9 (34.6%), Cd 26 (G>A) and IVS 1-1 (G>C) were 2 (7.7%) respectively. Meanwhile the minority were made of a single compound heterozygous of Cd 26 (G>A) and Cd 71/72, Cd 26 (>A) and Cd 17 (A>T), Cd 26 (G>A) and -28 (G>A) respectively. Twenty out of forty six patients were shown to have homozygous of IVS 1-5 (G>C) were 2 (10.0%), Cd 26 (G>A) were 15 (75.0%), Cd 19 (A>G) were 1 (5.0%), and IVS 1-1 (G>T) were 2 (10.0%). The beta chain mutations among the Kelantanese Malays followed closely the distribution of beta chain mutations among the Thais and the Malays of the Southern Thailand. The G-C transition at position 5 of the IVS 1-5 mutation was predominant among the Malay patients. In conclusion, this method has successfully identified the mutation spectrum in our cohort of transfusion-dependent beta thalassemia patients, and this method is equally effective in screening for mutation among thalassemia patients.

AB - The aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95%) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.83%) beta thalassemia alleles. Most of the patients (54.2%) were compound heterozygous with co-inheritance Cd 26 (G>A). The frequencies of spectrum beta chain mutation among these patients are presented in Table 2. Among the transfusion dependent beta thalassemia Malay patients studied, 26 patients were found to be compound heterozygous and the main alleles were Cd 26 (G>A). Compound heterozygous mutation of Cd 26 (G>A) and IVS 1-5 (G>C) were 12 (46.2%), Cd 26 (G>A) and Cd 41/42 (TTCT) were 9 (34.6%), Cd 26 (G>A) and IVS 1-1 (G>C) were 2 (7.7%) respectively. Meanwhile the minority were made of a single compound heterozygous of Cd 26 (G>A) and Cd 71/72, Cd 26 (>A) and Cd 17 (A>T), Cd 26 (G>A) and -28 (G>A) respectively. Twenty out of forty six patients were shown to have homozygous of IVS 1-5 (G>C) were 2 (10.0%), Cd 26 (G>A) were 15 (75.0%), Cd 19 (A>G) were 1 (5.0%), and IVS 1-1 (G>T) were 2 (10.0%). The beta chain mutations among the Kelantanese Malays followed closely the distribution of beta chain mutations among the Thais and the Malays of the Southern Thailand. The G-C transition at position 5 of the IVS 1-5 mutation was predominant among the Malay patients. In conclusion, this method has successfully identified the mutation spectrum in our cohort of transfusion-dependent beta thalassemia patients, and this method is equally effective in screening for mutation among thalassemia patients.

KW - Malay

KW - MARMS-PCR

KW - Mutation

KW - Thalassemia

KW - β-globin gene

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