Displaying publications 21 - 40 of 45 in total

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  1. Fulltext Serum ferritin and lactate dehydrogenase in a case of hemophagocytic lymphohistiocytosis
    Leong CF, Cheong SK, Hamidah NH, Ainoon O, Kannaheswary Y
    Malays J Pathol, 1998 Dec;20(2):103-8.
    PMID: 10879271
    A 40-day-old baby girl presented with intermittent fever, lymphadenopathy, massive hepatosplenomegaly, progressive pancytopenia and features of disseminated intravascular coagulopathy. A bone marrow aspiration was performed and showed florid histiocytic proliferation with marked hemophagocytosis. Based on the diagnostic guideline for Hemophagocytic Lymphohistiocytosis proposed by the Familial Hemophagocytic Lymphohistiocytosis Study Group of Histiocyte Society, this patient has fulfilled most of the criteria. We have also found that serum ferritin and lactate dehydrogenase to be very high in this patient. It remains uncertain whether the disorder is reactive or neoplastic.
  2. Enzyme activity of glucose-6-phosphate dehydrogenase-deficient Malaysian neonates during the first 10 days of life
    Boo NY, Ainoon O, Arif ZA, Cheong SK, Haliza MS
    J Paediatr Child Health, 1995 Feb;31(1):44-6.
    PMID: 7748690
    OBJECTIVE: The objective of this study was to determine the degree of severity of enzyme deficiency in glucose-6-phosphate dehydrogenase (G6PD)-deficient Malaysian neonates as part of an effort to identify risk factors associated with severe hyperbilirubinaemia in G6PD-deficient infants.

    METHODOLOGY: During this study, enzyme activity was measured in 53/59 (89.8%) hospital-diagnosed G6PD-deficient neonates (34 Malays, 12 Chinese, and seven other ethnic groups) born consecutively in the Kuala Lumpur Maternity Hospital. All neonates, except one, were males.

    RESULTS: The mean level of enzyme activity of the 52 males G6PD-deficient neonates (0.47 iu/g Hb, 95% confidence intervals: 0.37, 0.57) was less than 10% of that of normal Malaysian male neonates. The enzyme activity of the only female G6PD-deficient infant, at 1.11 iu/g Hb, was 12.5% of the mean G6PD enzyme activity of normal females.

    CONCLUSION: Our results showed that G6PD deficiency in Malaysian neonates predominantly affects males and is usually severe.

  3. Fulltext Nucleotide 1376 G-->T mutation in G6PD-deficient Chinese in Malaysia
    Ainoon O, Joyce J, Boo NY, Cheong SK, Hamidah NH
    Malays J Pathol, 1995 Dec;17(2):61-5.
    PMID: 8935127
    G6PD deficiency is the most common human enzymopathy and affects 200 million people worldwide. To date more than 400 biochemical variants and at least 60 different point mutations in the G6PD locus have been discovered. In Malaysia the overall incidence of G6PD deficiency among males is 3.1%, being more prevalent among the Chinese and Malays and less common among the Indians. As part of our initial effort to characterise G6PD deficiency in the Malaysian population, we investigated 18 G6PD deficient Chinese male neonates for the G6PD mutation G-->T at nt 1376, a common mutation seen among the Chinese in Taiwan and mainland China. The mutation was detected by a PCR-based technique using primers that artificially create a site for restriction enzyme Xho I. We found 61% (11 out of 18) of the Chinese G6PD deficient male neonates positive for this mutation. Study of enzyme electrophoretic mobility in 7 of the cases positive for this mutation revealed three different patterns of mobility. 107% (5 out of 7), 103% (1 out of 7) and 100% (1 out of 7). This study shows that mutation G-->T at nt 1376 is a common allele causing G6PD deficiency in Malaysians of Chinese origin. The finding of different patterns of electrophoretic mobility among the 7 cases positive for 1376 G-->T mutation supports the notion that diverse biochemical variants may share the same mutation.
  4. Immunophenotyping of peroxidase-negative acute leukaemias using immunoalkaline phosphatase (APAAP) method
    Cheong SK, Lim YC, Ainoon O, Hamidah NH
    Malays J Pathol, 1991 Dec;13(2):119-21.
    PMID: 1823093
    Immunophenotyping of acute leukaemias has become an important diagnostic tool in haematology laboratories as it is now well recognised that the presence of certain surface markers has prognostic significance. In 1988, we experimented with the alkaline phosphatase anti-alkaline phosphatase (APAAP) method for immunophenotyping of leukaemic cells in our laboratory. 48 cases of peroxidase-negative acute leukaemias were studied. Our study showed that 2 peroxidase-negative cases carried myeloid surface markers, 44% were negative for the markers studied and 5% were unclassified due to technical problems. We concluded that the APAAP method is a useful technique for demonstrating cell markers in leukaemic cells as the reaction is reddish and usually intense. We failed to demonstrate surface markers in 44% of the cases probably because of the choice of a limited panel of monoclonal antibodies.
  5. Evaluation of the Contraves Autolyzer 801
    Lim YC, Cheong SK, Joyce JA, Ainoon O, Jeyasekeran V, Menaka N
    Malays J Pathol, 1990 Jun;12(1):43-9.
    PMID: 2090889
    The Contraves Autolyzer 801 is a 20 parameter cell counter that operates on the principle of impedance. This evaluation study found that the within-batch precision for 5 of its parameters--WBC, RBC, Hb, Hct and Plt--had coefficients of variation below 5%, while the counts for red cell parameters were reproducible for up to 3 days. The analyser exhibited good linearity for all the parameters. When compared with 2 other counters--the Coulter S-Plus and the Coulter M350, some degree of proportional and constant bias due to unsuitable calibration were detected in the WBC, Hct and Plt parameters. Otherwise it showed generally good correlation in all the parameters and also with the manual PCV method. Carry over was negligible in the red cell parameters. The Contraves Autolyzer 801 is easy to operate and readily accepted by operators.
  6. Unexpected Epithelial Membrane Antigen (EMA) and Cytokeratin Expression in a Case of Infantile Acute Monoblastic Leukaemia
    Cheong SK, Chin SF, Azizon O, Ainoon O, Hamidah NH
    Hematology, 1996;1(3):223-5.
    PMID: 27406616 DOI: 10.1080/10245332.1996.11746308
    A previously healthy eleven month old male Malay infant presented with fever, upper respiratory tract infection and right knee swelling. Pallor, bilateral proptosis, hepatosplenomegaly, multiple scalp swellings and a right cheek swelling were observed. Investigations revealed that he had acute monoblastic leukemia or FAB M5a. Immunophenotyping by flow cytometry showed that the blast cells were positive for CD45, CD13, CD33, HLA-DR, CDllc, CD71, EMA, and Cytokeratin. They were negative for CD34, CD19, CD10, CD22, CD2, CD3, CD4, CD7, CD8, CD61, NK, Glycophorin A, and CD14. The monoblasts were used to evaluate anti-EMA and anti-cytokeratin. They were unexpectedly found to be positive. Acute monoblastic leukaemias are well known to show extramedullary infiltration and this may be their primary mode of presentation. Thus, in immunochemostry, when using EMA and cytokeratin expression in the differential diagnosis of neoplastic diseases, it is important to consider that monoblasts may express these markers as illustrated by this case.
  7. Fulltext Painful oral ulcers with hydroxyurea therapy
    Norhaya MR, Cheong SK, Ainoon O, Hamidah NH
    Singapore Med J, 1997 Jul;38(7):283-4.
    PMID: 9339092
    Five patients treated with hydroxyurea for various haematological malignancies developed multiple painful oral ulcers. Their neutrophil counts were either normal or elevated. The ulcers disappeared with cessation of hydroxyurea. Oral ulcers recurred when hydroxyurea was resumed in one of the patients. As the patients were unable to tolerate this painful side effect, hydroxyurea had to be discontinued. Appearance of painful oral ulceration seems to be independent of dosing rate or total cumulative dose of hydroxyurea.
  8. Fulltext Sweet-like syndrome in a patient with acute myeloid leukaemia
    Norhaya MR, Cheong SK, Hamidah NH, Ainoon O
    Singapore Med J, 1996 Jun;37(3):320-2.
    PMID: 8942241
    A 45-year-old Malay lady developed brisk vesicular, plaque-like reaction to a Mantoux test concomitant with a diagnosis of acute myeloid leukaemia (AML). The lesion resolved one month after chemotherapy. Similar lesions developed later after she was bitten by mosquitoes on the forearms. She also had the lesions over her cheek. A skin biopsy showed infiltration of the dermis with neutrophils and some monocytoid cells. The lesion resolved one week after prednisolone therapy.
  9. Fulltext Comparison of detection of glucose-6-phosphate dehydrogenase deficiency using fluorescent spot test, enzyme assay and molecular method for prediction of severe neonatal hyperbilirubinaemia
    Wang FL, Boo NY, Ainoon O, Wong MK
    Singapore Med J, 2009 Jan;50(1):62-7.
    PMID: 19224086
    INTRODUCTION:
    This study aimed to compare the detection rates of glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonates by fluorescent spot test (FST), enzyme assay and molecular methods, and to identify which method was a significant predictor of severe hyperbilirubinaemia.
    METHODS:
    74 term infants of Chinese descent admitted with severe hyperbilirubinaemia (total serum bilirubin equal or greater than 300 micromol/L) and 125 healthy term infants born in the hospital without severe hyperbilirubinaemia were recruited into the study. Specimens of blood were collected from each infant for FST, G6PD enzyme assay and TaqMan minor groove binder single nucleotide polymorphism genotyping assay.
    RESULTS:
    26 (13.1 percent) infants were diagnosed to have G6PD deficiency by FST. They had significantly lower median enzyme levels (0.8 IU/g Hb, interquartile range [IQR] 0.4-4.3) than those diagnosed to be normal (12.0 IU/g Hb, IQR 10.3-15.8) (p-value is less than 0.0001). Based on the enzyme assay, 39 (19.6 percent) infants had G6PD deficiency at an enzyme cut-off level of less than 8.5 IU/g Hb. G6PD mutation was detected in 27 (13.6 percent) infants. Logistic regression analysis showed that the only significant predictors of severe hyperbilirubinaemia were G6PD deficiency based on a cut-off level of less than 8.5 IU/g Hb (adjusted odds ratio [OR] 5.3, 95 percent confidence interval [CI] 2.4-11.4; p-value is less than 0.0001) and exclusive breast-feeding (adjusted OR 11.4, 95 percent CI 3.1-42.4; p-value is less than 0.0001). The gender and birth weight of infants, FST results, G6PD mutation and the actual G6PD enzyme levels were not significant predictors.
    CONCLUSION:
    A G6PD enzyme level of less than 8.5 IU/g Hb is a significant predictor of severe hyperbilirubinaemia
  10. Fulltext Pregnancy in a patient receiving busulphan for chronic myeloid leukaemia
    Norhaya MR, Cheong SK, Hamidah NH, Ainoon O
    Singapore Med J, 1994 Feb;35(1):102-3.
    PMID: 8009265
    A 33-year-old Malay lady with chronic myeloid leukaemia (CML) became amenorrhoeic during therapy with busulphan. Pregnancy was diagnosed via a urine pregnancy test and an ultrasound confirmed a viable foetus at 16 weeks. The busulphan was stopped. Her pregnancy was unremarkable and continued till term. She delivered a healthy child.
  11. Fulltext Prenatal diagnosis of aneuploidies in amniotic fluid by multiple ligation-dependent probe amplification (MLPA) analysis
    Hamidah NH, Munirah AR, Hafiza A, Farisah AR, Shuhaila A, Norzilawati MN, et al.
    Malays J Pathol, 2014 Dec;36(3):163-8.
    PMID: 25500514 MyJurnal
    Prenatal diagnosis is essential in the new era of diagnosis and management of genetic diseases in obstetrics. Multiple ligation-dependent probe amplification (MLPA) is a recent technique for prenatal diagnosis for the relative quantification of 40 different nucleic acid sequences in one single reaction. We had utilized the MLPA technique in detecting aneuploidies in amniotic fluid samples from 25 pregnant women from the Obstetrics and Gynaecology Department UKMMC, versus the quantitative fluorescent polymerase chain reaction (QF-PCR) method. Conclusive results were obtained in 18 cases and all were concordant with that of the QF-PCR. All four cases of trisomies were correctly identified including one case with maternal cell contamination.
  12. Fulltext Molecular characteristic of alpha thalassaemia among patients diagnosed in UKM Medical Centre
    Azma RZ, Ainoon O, Hafiza A, Azlin I, Noor Farisah AR, Nor Hidayati S, et al.
    Malays J Pathol, 2014 Apr;36(1):27-32.
    PMID: 24763232 MyJurnal
    Alpha (Α) thalassaemia is the most common inherited disorder in Malaysia. The clinical severity is dependant on the number of Α genes involved. Full blood count (FBC) and haemoglobin (Hb) analysis using either gel electrophoresis, high performance liquid chromatography (HPLC) or capillary zone electrophoresis (CE) are unable to detect definitively alpha thalassaemia carriers. Definitive diagnosis of Α-thalassaemias requires molecular analysis and methods of detecting both common deletional and non-deletional molecular abnormailities are easily performed in any laboratory involved in molecular diagnostics. We carried out a retrospective analysis of 1623 cases referred to our laboratory in Universiti Kebangsaan Malaysia Medical Centre (UKMMC) for the diagnosis of Α-thalassaemia during the period October 2001 to December 2012. We examined the frequency of different types of alpha gene abnormalities and their haematologic features. Molecular diagnosis was made using a combination of multiplex polymerase reaction (PCR) and real time PCR to detect deletional and non-deletional alpha genes relevant to southeast Asian population. Genetic analysis confirmed the diagnosis of Α-thalassaemias in 736 cases. Majority of the cases were Chinese (53.1%) followed by Malays (44.2%), and Indians (2.7%). The most common gene abnormality was ΑΑ/--(SEA) (64.0%) followed by ΑΑ/-Α(3.7) (19.8%), -Α(3.7) /--(SEA) (6.9%), ΑΑ/ΑΑCS (3.0%), --(SEA)/--(SEA) (1.2%), -Α(3.7)/-Α(3.7) (1.1%), ΑΑ/-Α(4.2) (0.7%), -Α(4.2)/--(SEA (0.7%), -Α(3.7)/-Α(4.2) (0.5%), ΑΑ(CS)/-- SEA) (0.4%), ΑΑ(CS)/ΑΑ(Cd59) (0.4%), ΑΑ(CS)/ΑΑ(CS) (0.4%), -Α(3.7)/ΑΑ(Cd59) (0.3%), ΑΑ/ΑΑ(Cd59) (0.1%), ΑΑ(Cd59)/ ΑΑ(IVS I-1) (0.1%), -Α(3.7)/ΑΑ(CS) (0.1%) and --(SEA) /ΑΑ(Cd59) (0.1%). This data indicates that the molecular abnormalities of Α-thalassaemia in the Malaysian population is heterogenous. Although Α-gene deletion is the most common cause, non-deletional Α-gene abnormalities are not uncommon and at least 3 different mutations exist. Establishment of rapid and easy molecular techniques is important for definitive diagnosis of alpha thalassaemia, an important prerequisite for genetic counselling to prevent its deleterious complications.
  13. A study of JAK2 (V617F) gene mutation in patients with chronic myeloproliferative disorders
    Hamidah NH, Farisah NR, Azlinda AB, Wong FL, Das S, Fadillah SA, et al.
    Clin Ter, 2012;163(2):109-13.
    PMID: 22555824
    Chronic myeloproliferative diseases (MPDs) are heterogenous group of haematological malignant disorders. It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients with polycythaemia vera (PV) and half of those with myelofibrosis and essential thrombocythaemia. The presence of JAK2 (V617F) mutation is considered an important criterion for the exclusion of secondary-reactive from clonal disorders. In the present uni-institutional study, we analyzed the JAK2 (V617F) mutation status in the ethnic Malay and Chinese patients who were diagnosed as MPDs.
  14. Real-time quantification for BCR-ABL transcripts in chronic myeloid leukaemia patients in UKMMC, Malaysia
    Wong FL, Hamidah NH, Hawa AA, Nurul AN, Leong CF, Saw F, et al.
    Malays J Pathol, 2011 Dec;33(2):107-12.
    PMID: 22299211
    Molecular pathogenesis of chronic myeloid leukemia (CML) is well established and molecular monitoring for patients with CML has become an important practice in the management of patients on imatinib therapy. In the present study, we report the use of RQ-PCR method for detection of BCR-ABL fusion gene for our CML cases. We performed a two-step RQ-PCR on bone marrow aspirates or peripheral blood of 37 CML patients. Quantitative expression of BCR-ABL fusion gene was carried out relative to the expression of a housekeeping gene as endogenous control to compensate for uneven cell numbers, RNA quality, or variations in reverse transcription efficiencies. Twenty-four of these patients were pre-treated with hydroxyurea or alpha interferon prior to the imatinib therapy. Their BCR-ABL fusion gene levels were monitored for 18 months. All samples processed were evaluable. The PCR amplification efficiency of the ABL gene is 90.5% (0.2158) and the BCR-ABL gene, 93.4% (0.1573).
  15. Fulltext Juvenile myelomonocytic leukaemia: a case series
    Azma RZ, Zarina AL, Hamidah A, Jamal R, Sharifah NA, Ainoon O, et al.
    Malays J Pathol, 2009 Dec;31(2):121-8.
    PMID: 20514855 MyJurnal
    Juvenile myelomonocytic leukaemia (JMML), previously known as juvenile chronic myeloid leukaemia (JCML) is a rare, myelodysplastic - myeloproliferative disease typically presenting in early childhood. This disorder is difficult to distinguish from other myeloproliferative syndrome such as chronic myeloid leukaemia (CML) because of the similarities in their clinical and bone marrow findings. However, because of its unique biological characteristics such as absolute monocytosis with dysplasia, absence of Philadelphia chromosome or BCR-ABL fusion protein, hypergammaglobulinaemia and raised fetal haemoglobin level, this disorder does not satisfy the criteria for inclusion in the CML or chronic myelomonocytic leukaemia (CMML) group, as seen in adult patients. We describe a series of three patients with JMML, who had almost similar clinical and laboratory findings, and discuss the difficulty in the classification and treatment of the disease.
  16. Assessment of P-gp and MRP1 activities using MultiDrugQuant Assay Kit: a preliminary study of correlation between protein expressions and its functional activities in newly diagnosed acute leukaemia patients
    Fazlina N, Maha A, Zarina AL, Hamidah A, Zulkifli SZ, Cheong SK, et al.
    Malays J Pathol, 2008 Dec;30(2):87-93.
    PMID: 19291917
    Multidrug resistance (MDR) is believed to be responsible for poor response of patients towards chemotherapy particularly patients with acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL). The best-characterized resistance mechanism is the one mediated by permeability-glycoprotein (P-gp) encoded by MDR1 gene, which is responsible for drug efflux. We studied P-gp and multidrug resistance-associated protein 1 (MRP1) expression and functional activities in 43 newly diagnosed acute leukemia cases (19 paediatric ALL cases and 24 adult AML cases). The expression and functional activities were examined using flow cytometry and MultiDrugQuant assay kit (involving calcein AM uptake and efflux). P-gp and MRP1 expression and its functional activities were observed in 68.4% of paediatric ALL. In adult AML cases, all cases expressed MRP1 and its functional activities but only 58.3% were positive for P-gp and its functional activities. We were able to show a significant correlation between the expression of the multidrug resistant protein (P-gp and MRP1) and their functional activity in adult AML and paediatric ALL samples.
  17. Expression of multidrug resistance (MDR) proteins and in vitro drug resistance in acute leukemias
    Fazlina N, Maha A, Jamal R, Zarina AL, Cheong SK, Hamidah H, et al.
    Hematology, 2007 Feb;12(1):33-7.
    PMID: 17364990
    The expression of the multidrug resistance (MDR) proteins may influence the outcome of treatment in patients with acute leukemia. The aim of this study was to determine the IC50 of cytotoxic drugs (cytosine arabinoside, ara-C and daunorubicin, dnr) using the in vitro 3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfophenyl)2H-tetrazolium, inner salt (MTS) assay method. A total of 82 newly diagnosed acute leukemia cases (43 adult myeloid leukaemia, AML cases and 39 acute lymphoblastic leukaemia, ALL cases) and 16 relapsed cases (8 AML cases and 8 ALL cases) were studied. The MTS assay was performed using two cytotoxic drugs, dnr and ara-C. Cells were incubated with different concentrations of drugs for 4 days and the IC50 was extrapolated from the viability curve. In newly diagnosed cases, we found that childhood ALL samples showed higher IC50 values of dnr (0.040 +/- 2.320) compared to adult AML samples (0.021 +/- 0.158). In contrast, newly diagnosed adult AML samples showed higher IC50 values of ara-C (0.157 +/- 0.529) compared to childhood ALL samples (0.100 +/- 2.350). In relapsed cases, two samples of childhood ALL showed IC50 values of dnr (0.910 +/- 1.760) and ara-C (1.310 +/- 2.390), which was higher compared to childhood AML samples (0.129 +/- 0.214 and 0.210 +/- 0.003, respectively). However, there was no correlation between IC50 values of these drugs tested with clinical outcome. In conclusion, we found that MTS assay is an easy, rapid and non laborious method to study in vitro drug resistance in acute leukaemia cases.
  18. Fulltext Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates
    Ainoon O, Boo NY, Yu YH, Cheong SK, Hamidah HN, Lim JH
    Malays J Pathol, 2004 Dec;26(2):89-98.
    PMID: 16329560
    We performed DNA analysis on cord blood samples of 128 Chinese male neonates diagnosed as G6PD deficiency in Hospital Universiti Kebangsaan Malaysia by a combination PCR-restriction enzyme digest technique, Single Stranded Conformation Polymorphism analysis and DNA sequencing. We found 10 different G6PD-deficient mutations exist. The two commonest alleles were G6PD Canton 1376 G>T (42.3%) and Kaiping 1388 G>A (39.4%) followed by G6PD Gaohe 592 G>A (7.0%), Chinese-5 1024 C>T, Nankang 517 T>C (1.5%), Mahidol 487 G>A (1.6%), Chatham 1003 G>T (0.8%), Union 1360 C>T (0.8%), Viangchan 871 G>A (0.8%) and Quing Yang 392 G>T (0.8%). Sixty eight percent (88/125) neonates in this study had neonatal jaundice and 29.7% developed hyperbilirubinemia >250 micromol/l. The incidence of hyperbilirubinemia >250 micromol/l was higher in G6PD Kaiping (43.8%) than G6PD Canton (22%) (p< 0.05). There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean duration of phototherapy between the two major variants. None of the 88 neonates required exchange transfusion. In conclusion we have completely characterized the molecular defects of a group of Chinese G6PD deficiency in Malaysia. The mutation distribution reflects the original genetic pool and limited ethnic admixture with indigenous Malays.
  19. Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese
    Ainoon O, Joyce J, Boo NY, Cheong SK, Zainal ZA, Hamidah NH
    Hum Mutat, 1999 Oct;14(4):352.
    PMID: 10502785 DOI: 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU1
    We screened 38 G6PD-deficient male Chinese neonates for known G6PD mutations using established PCR-based techniques. We found 50.0% (19 of 38) were mutation 1376G>T, 34.2% (13 of 38) were mutation 1388G>A, 5.2% (2 of 38 ) were mutation 95A>G and 2.2% (1 of 38) was mutation 1024C>T. In 7% (3 of 38) of the cases the mutations remained uncharacterised. Sixty three percent (24 of 38) of the G6PD deficient neonates had neonatal jaundice with 28.9 % (11 of 38) developing moderate to severe hyperbilirubinemia. The group of neonates with 1388 mutation showed the highest incidence of moderate to severe hyperbilirubinemia requiring phototherapy and/or exchange transfusion respectively. Majority (70%) of the G6PD deficient neonates showed severe enzyme deficiency. However, there was no meaningful association between the level of enzyme activity and the severity of neonatal jaundice. In summary, four mutations account for more than 90% of the G6PD deficiency cases among the Chinese in Malaysia and the pattern of distribution of the molecular variants is similar to those found among the Chinese in Taiwan and southern mainland China. Our findings also suggest the possible association of nt 1388 mutation with severe neonatal jaundice.
  20. Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays
    Ainoon O, Yu YH, Amir Muhriz AL, Boo NY, Cheong SK, Hamidah NH
    Hum Mutat, 2003 Jan;21(1):101.
    PMID: 12497642 DOI: 10.1002/humu.9103
    We performed DNA analysis using cord blood samples on 86 male Malay neonates diagnosed as G6PD deficiency in the National University of Malaysia Hospital by a combination of rapid PCR-based techniques, single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing. We found 37.2% were 871G>A (G6PD Viangchan), 26.7% were nt 563 C>T (G6PD Mediterranean) and 15.1% were 487G>A (G6PD Mahidol) followed by 4.7% 1376G>T (G6PD Canton), 3.5% 383T>C (G6PD Vanua Lava), 3.5% 592C>T (G6PD Coimbra), 2.3% 1388G>A (G6PD Kaiping), 2.3% 1360C>T (G6PD Union), 2.3% 1003G>A (G6PD Chatham), 1.2% 131C>G (G6PD Orissa) and 1.2% 1361G>A (G6PD Andalus). Seventy-one (82.6%) of the 86 G6PD-deficient neonates had neonatal jaundice. Fifty seven (80%) of the 71 neonates with jaundice required phototherapy with only one neonate progressing to severe hyperbilirubinemia (serum bilirubin >340 micromol/l) requiring exchange transfusion. There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin level, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean number of days of phototherapy between the three common variants. In conclusion, the molecular defects of Malay G6PD deficiency is heterogeneous and G6PD Viangchan, Mahidol and Mediterranean account for at least 80% of the cases. Our findings support the observation that G6PD Viangchan and Mahidol are common Southeast Asian variants. Their presence in the Malays suggests a common ancestral origin with the Cambodians, Laotians and Thais. Our findings together with other preliminary data on the presence of the Mediterranean variant in this region provide evidence of strong Arab influence in the Malay Archipelago.
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