Displaying publications 1 - 20 of 33 in total

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  1. Khor CG, Tan BE, Kan SL, Tsang EE, Lim AL, Chong EY, et al.
    J Clin Rheumatol, 2016 Jun;22(4):194-7.
    PMID: 27219306 DOI: 10.1097/RHU.0000000000000362
    OBJECTIVE: There is paucity of data for Takayasu arteritis (TAK) among South Asians. We aimed to evaluate the clinical features, angiographic findings, as well as treatment and outcome of TAK among Malaysian multiethnic groups.

    METHODS: This is a retrospective review of 40 patients with TAK seen in major rheumatology centres in Malaysia between April 2006 and September 2013.

    RESULTS: Majority were female patients (92.5%), with a female-to-male ratio of 12:1. Median duration of disease from diagnosis was 66 months (interquartile range, 33-177 months). Fifteen (37.5%) were Malays, 9 (22.5%) each were Indians and indigenous from East Malaysia and 7 (17.5%) were Chinese. Indian and indigenous from East Malaysia were overrepresented in this disease. The mean (SD) age of symptom onset and diagnosis were 25.5 (8.1) and 27.4 (8.4), respectively. The 3 most common clinical presentations at diagnosis were diminished or absent pulse, which occurred in 80% of the patients, followed by blood pressure discrepancy (60%) and arterial bruit (52.5%). There was no difference in clinical presentation among ethnic groups. The subclavian artery was the commonest vessel involved (72.5%), followed by the carotid artery (65%) and renal artery (47.5%). Eight patients had coronary artery involvement, and 2 patients had pulmonary artery involvement. Type I arterial involvement was the commonest (80.0%), followed by type IV (35%), present in isolation or mixed type. Glucocorticoid was the main medical treatment (90.0%). Nineteen patients (47.5%) underwent revascularization procedures. Five patients died during the follow-up period.

    CONCLUSIONS: The Malaysian TAK cohort had similarities with and differences from other published TAK cohort. A nationwide TAK registry is needed to determine the prevalence of the disease among different ethnic groups.
  2. Alhajj MN, Al-Maweri SA, Folayan MO, Halboub E, Khader Y, Omar R, et al.
    BMC Oral Health, 2022 Jan 26;22(1):18.
    PMID: 35081945 DOI: 10.1186/s12903-022-02053-0
    OBJECTIVES: E-cigarette use has become popular, particularly among the youth. Its use is associated with harmful general and oral health consequences. This survey aimed to assess self-reported oral hygiene practices, oral and general health events, and changes in physiological functions (including physical status, smell, taste, breathing, appetite, etc.) due to E-cigarette use among dental students.

    METHODS: This online, multicounty survey involved undergraduate dental students from 20 dental schools across 11 different countries. The questionnaire included demographic characteristics, E-cigarette practices, self-reported complaints, and associated physiological changes due to E-cigarette smoking. Data were descriptively presented as frequencies and percentages. A Chi-square test was used to assess the potential associations between the study group and sub-groups with the different factors. Statistical analysis was performed using SPSS at P 
  3. Pon LW, Noor-Aini MY, Ong FB, Adeeb N, Seri SS, Shamsuddin K, et al.
    Asia Pac J Clin Nutr, 2006;15(3):388-99.
    PMID: 16837432
    The objective of the study was to assess nutritional and health status as well as nutritional knowledge in urban middle-aged Malaysian women. The impact of menopause on diet and health indices was also studied. The study included 360 disease free women, non users of HRT,aged > or =45 years with an intact uterus recruited from November 1999 to October 2001. Personal characteristics, anthropometric measurements and blood sample were acquired followed by clinical examination. Nutrient intake and nutritional knowledge was determined by a quantitative FFQ and KAP. The findings showed that urban middle-aged women, aged 51.65+/-5.40 years had energy intakes (EI) 11% below RDA, consisting of 53% carbohydrates, 15% protein and a 32% fat which declined with age. The sample which comprised of 42.5% postmenopausal women had a satisfactory diet and healthy lifestyle practices. Premenopausal women consumed more dietary fat (6%) with other aspects of diet comparable to the postmenopausal women. Iron intake was deficient in premenopausal women, amounting to 56% RDA contributing to a 26% prevalence of anaemia. Overall, calcium intake reached 440 mg daily but dairy products were not the main source. The postmenopaused had a more artherogenic lipid profile with significantly higher total cholesterol (TC) and LDL-C, but more premenopausal women were overweight/obese (49% versus 35%). EI was the strongest predictor for BMI and waist circumference (WC), with WC itself an independent predictor of fasting blood sugar and TC with BMI strongly affecting glucose tolerance. High nutritional knowledge was seen in 39% whereas 20% had poor knowledge. Newspapers and magazines, followed by the subject's social circle, were the main sources of nutritional information. Nutritional knowledge was positively associated with education, household income, vitamin/ mineral supplementation and regular physical activity but inversely related to TC. In conclusion, middle-aged urban women had an adequate diet with low iron and calcium intakes. Nutritional knowledge was positively associated to healthier lifestyle practices and lower TC. A comparable nutrient intake and lifestyle between pre and postmenopausal women suggested that health changes associated with menopause was largely independent of diet.
  4. Lim PS, Ong FB, Adeeb N, Seri SS, Noor-Aini MY, Shamsuddin K, et al.
    Osteoporos Int, 2005 Dec;16(12):2069-79.
    PMID: 16234999 DOI: 10.1007/s00198-005-2003-4
    The aim of this study was to identify risk factors associated with osteoporosis in urban midlife Malaysian women and to assess the effectiveness of lifestyle intervention in bone loss prevention with hormone replacement therapy (HRT) as a positive control. A total of 514 disease-free, uterus-intact, non-HRT-using women aged 45 years and older were recruited into the study. After initial bone mineral density (BMD) assessments, they were randomized into three groups: GI (control), G2 (lifestyle intervention), and G3 (lifestyle intervention with HRT). The study group was composed of 67.5% Chinese, 27.8% Malay, and 4.2% Indians with a mean age of 51.07+/-5.28 years. Two-fifths were postmenopausal, and the prevalence of osteoporosis was 24.1%, seen predominantly at the hip. Postmenopausal women had significantly lower mean BMD and a higher incidence of osteoporosis compared with the premenopausal women, 42.1% vs. 11.1% (p<0.0005). A lower incidence of osteoporosis was found in women who took calcium supplementation regularly as opposed to those who do not, 18.7% vs. 29.3% (p=0.036). Age and a greater postmenopausal duration showed a significant negative association with BMD, whereas higher family income, weight, body mass index, and waist and hip circumference were positively correlated. After 18-20 months, the effect of intervention was assessed based on BMD values of 279 women at baseline and after intervention. Lifestyle intervention alone was effective in premenopausal women, preventing over 90% of spinal bone loss compared with the controls, who lost 11.6% (0.046 g/cm2) bone mass with similar losses of hip bone, 2.0% (0.026 g/cm2) vs. 1.5% (0.020 g/cm2). Premenopausal women on HRT also showed a substantial decrease in spine and hip BMD, 18.6% (0.081 g/cm2) and 9.0% (0.122 g/cm2), respectively. The lifestyle intervention program retarded postmenopausal bone loss by 21% and 37% compared with controls, who lost 9.6% (0.141 g/cm2) and 6.0% (0.138 g/cm2) bone mass at the spine and hip. In comparison, lifestyle intervention with HRT increased postmenopausal BMD by 12.7% (0.216 g/cm2) at the spine and 1.9% (0.042 g/cm2) at the hip. The changes in hip BMD were influenced by current age, ethnicity, and income, while intervention had the strongest effect on spine BMD changes. In conclusion, lifestyle intervention prevented spinal bone loss in premenopausal women and retarded postmenopausal spine and hip bone loss compared with controls. The benefits of physical activity on spine and hip BMD highlight its potential as a safe and cost-effective alternative to HRT, which is not advocated because of its potential adverse effects.
  5. Ranjbari A, Azarbayjani MA, Yusof A, Halim Mokhtar A, Akbarzadeh S, Ibrahim MY, et al.
    BMC Complement Altern Med, 2016 Mar 15;16:101.
    PMID: 26980377 DOI: 10.1186/s12906-016-1064-6
    BACKGROUND: Urtica dioica (UD) has been identified as a traditional herbal medicine. This study aimed to investigate the effect of UD extract and swimming activity on diabetic parameters through in vivo and in vitro experiments.

    METHODS: Adult WKY male rats were randomly distributed in nine groups: intact control, diabetic control, diabetic + 625 mg/kg, 1.25 g/kg UD, diabetic + 100 mg/kg Metformin, diabetic + swimming, diabetic + swimming 625 mg/kg, 1.25 g/kg UD, and diabetic +100 mg/kg Metformin + swimming. The hearts of the animals were punctured, and blood samples were collected for biochemical analysis. The entire pancreas was exposed for histologic examination. The effect of UD on insulin secretion by RIN-5F cells in 6.25 or 12.5 mM glucose dose was examined. Glucose uptake by cultured L6 myotubes was determined.

    RESULTS: The serum glucose concentration decreased, the insulin resistance and insulin sensitivity significantly increased in treated groups. These changes were more pronounced in the group that received UD extract and swimming training. Regeneration and less beta cell damage of Langerhans islets were observed in the treated groups. UD treatment increased insulin secretion in the RIN-5F cells and glucose uptake in the L6 myotubes cells.

    CONCLUSIONS: Swimming exercises accompanied by consuming UD aqueous extracts effectively improved diabetic parameters, repaired pancreatic tissues in streptozotocin-induced diabetics in vivo, and increased glucose uptake or insulin in UD-treated cells in vitro.

  6. Sulaiman W, Othman M, Mokhtar AM, Rosman A, Ong SG, Soo IS, et al.
    APLAR Journal of Rheumatology, 2006;9 Suppl 1:A54-A55.
    DOI: 10.1111/j.1479-8077.2006.00199_24.x
    Objective: To determine the number of RA cases and to evaluate the demographic patterns in all 4 Rheumatology Referral Centers under the Ministry of Health Malaysia. Materials and methods: One thousand and eighty-four rheumatoid arthritis patients from all 4 centers i.e. Hospital Selayang, Putra Jaya, Seremban and Taiping which are situated in the west coast of West Malaysia, using rheumatoid arthritis database comprising of basic clinical and patient questionnaire, until the end of year 2004 were analysed. Results: At the time of documentation, 88.6% were female at all range of ages especially between age of 25 and 54 years (77.6%) with female to male ratio 8 :1. 52.1% were housewives. Mean age of onset of RA was 49.6 ± 11.8 SD with female 49.3 ± 11.7 SD and male 52.0 ± 12.0 SD (p < 0.05). Indian was the predominant ethnic group (54.5%), followed by Malay (31.4%), Chinese (11.6%) and others (27%). Majority had their education up to secondary level (50.8%), followed by primary (32.6%), and tertiary (6.3%) levels while 10.3% of cases had not received any formal education in their lives. 74.4% were seropositive and 87.3% fulfilled at least 4 out of 7 American College of Rheumatology (ACR) revised criteria for rheumatoid arthritis. 74% were diagnosed RA within 2 years after the onset of arthritis. Seropositivity was not significantly related to gender. Positive rheumatoid factor was dominated by Indian followed by Malay and Chinese. 83.3% were married. 23.3% female and 33.9% male between age group 25-54 were employed. 7.4% had achieved their retirement at time of entry whilst 8.9% were unemployed. Employment status was statistically significant across gender (p < 0.001). The cases differed between rheumatology centers as well as individual practices. Conclusion: There are increasing numbers of RA cases in Malaysia. Results from this study did not reflect the true prevalence of RA in Malaysia. Hence, a larger and more comprehensive database on RA with collaboration of all Government and Private Hospitals in the whole nation will provide better information about the patient case mix in different healthcare settings, treatment practice as well as disease complications. The implementation of rheumatology centers with better regional cooperation, will lead to better treatment and outcome in terms of identification of early as well as established RA cases. Early referral to the centers will be made possible for proper treatment institution and rehabilitation. Hence, improve quality of life including socio-economic status especially among those within the productive age.
  7. Siti Sarah M, Nor Aini U, Nurismah MI, Hafiza A, Khalidah M, Mokhtar AB, et al.
    Clin Ter, 2014;165(1):35-9.
    PMID: 24589949 DOI: 10.7471/CT.2014.1659
    Paraproteinemia is one of the diagnostic features of multiple myeloma. A commonly used method is the detection of paraprotein by agarose gel electrophoresis (AGE) followed by by immunofixation electrophoresis (IFE) to confirm monoclonality. Due to their smaller size, immunoglobulin A (IgA) and light chain only paraproteins may appear at the beta or even alpha 2 protein fractions. Here, we discuss a case report of a 47-year-old man who presented with pathological fracture of third thoracic (T3) vertebra. Serum protein electrophoresis (SPE) was initially reported as no paraprotein detected. However, a bone biopsy was reported to show plasma cell proliferation with light chain restriction. A repeat sample for protein electrophoresis together with IFE revealed lambda light chain paraprotein co-migrating at the beta region. The beta band plus paraprotein was quantitated as 4.3 g/L (7.0%), which was within normal limits of the beta protein fraction. Hence, it has to be remembered that if the SPE is negative, it does not necessarily mean that the paraprotein is absent in cases which are highly suspicious.
  8. Zakaria ZA, Mohamad AS, Ahmad MS, Mokhtar AF, Israf DA, Lajis NH, et al.
    Biol Res Nurs, 2011 Oct;13(4):425-32.
    PMID: 21112917 DOI: 10.1177/1099800410386590
    Nonsteroidal anti-inflammatory drugs (NSAIDs) have been widely used for the treatment of inflammation. However, despite their effectiveness, most NSAIDs cause various side effects that negatively affect the management of inflammation and, in part, pain. Thus, there is a need to search for new anti-inflammatory agents with few, or no, side effects. Natural products of plant, animal, or microorganism origin have been good sources of new bioactive compounds. The present study was carried out to evaluate the acute and chronic anti-inflammatory activities of the essential oil of the rhizomes of Zingiber zerumbet (Zingiberaceae) using the carrageenan-induced paw edema and cotton pellet-induced granuloma tests, respectively. The effect of the essential oil on inflammatory- and noninflammatory-mediated pain was also assessed using the formalin test. Essential oil of Z. zerumbet, at doses of 30, 100, and 300 mg/kg, was administered intraperitoneally to rats. The substance exhibited significant anti-inflammatory activity both in acute and chronic animal models. The essential oil also inhibited inflammatory- and noninflammatory-mediated pain when assessed using the formalin test. In conclusion, the essential oil of Z. zerumbet possessed anti-inflammatory activity, in addition to its antinociceptive activity, which may explain its traditional uses to treat inflammatory-related ailments.
  9. Bahyah MK, Murad ZA, Ghazali I, Roszaman R, Noraziana AW, Mokhtar A, et al.
    Med J Malaysia, 2010 Mar;65(1):23-6.
    PMID: 21265243 MyJurnal
    A one year study was carried out to determine the outcome of the seminal fluid parameters collected via masturbation and coitus interruptus in 151 patients who were undergoing intrauterine insemination (IUI) and patients who came for seminal analysis. There were no statistically significant differences in terms of volume, concentration, progressive motility and normal morphology from specimens collected via coitus interruptus compared to specimens collected via masturbation. Pregnancy outcomes were also comparable.
  10. Jalleh RD, Kuppusamy I, Mahayiddin AA, Yaacob MF, Yusuf NA, Mokhtar A
    Med J Malaysia, 1991 Sep;46(3):269-73.
    PMID: 1839924
    We reviewed 31 cases (19 males and 12 females) of spinal tuberculosis seen at the National Tuberculosis Centre from 1985 to 1989. The mean age was 35.4 years. The predominant clinical feature was backache (90.3%), while neurological features were found in 30.9%. An elevated erythrocyte sedimentation rate (in 80.0%) and a positive Mantoux test (in 70.9%) served as useful investigations. Spinal x-ray was abnormal in all cases, the lumbar spine being most commonly involved. Bacteriological or histopathological confirmation was obtained in only 29.0% of cases. The mainstay of treatment was anti-tuberculous chemotherapy with surgery being performed in 41.9% of patients.
  11. Razi MAM, Daud HZBH, Mokhtar A, Mahamud M, Rahmat SN, Al-Gheethi AA
    Mar Pollut Bull, 2022 Jan 21;175:113255.
    PMID: 35074593 DOI: 10.1016/j.marpolbul.2021.113255
    In this study, the climate change, tsunami and biodiversity for 336 km coastline endangered at the South China Sea was investigated with the review for the past, current and prediction models for the future. The hydraulic study of the coastal area was conducted using a well-established 2D numerical model suite Delft3D. The study revealed that the generated earthquakes at the convergence zone in the last century are small (Mw7.3), the possibility that a megathrust earthquake event in the SCS basin occurs in the future. The study area comprises a narrow strip of vegetation notably dominated by Casuarina equisetifolia with other coastal plants. Mangrove forests are found along the coastline and estuaries that are overlaid with marine alluvial soils. The current paper is the first comprehensive study of the South China Sea, and the findings increase the awareness among the public to understand the risk associated with environmental pollution.
  12. Mokhtar AS, Sahimin N, Hanapi IRM, Lau YL, Zain SNM, AbuBakar S, et al.
    Trop Biomed, 2021 Dec 01;38(4):590-593.
    PMID: 35001925 DOI: 10.47665/tb.38.4.102
    Ectoparasitic infestations including pediculosis capitis are common in people of disadvantaged communities as they live in overcrowded institutions, a condition that often favourable for disease transmission. In this study, we evaluated the prevalence of head lice infestation among disadvantaged children aged between five to 14 years-old living in five poor conditions located across the Klang Valley, Malaysia. Of total 335 children examined, 14% were positively infected with head lice. Molecular analysis using the universal cytochrome c oxidase subunit I ( COI) barcoding gene on total of 167 head lice collected in this study indicated they are belonging to the A and C clades; confirming the global distribution of clade A and expansion of clade C in Southeast Asia, which is reported for the first time in Malaysia.
  13. Mokhtar AS, Muslimin M, Mat-Saat AY, Ghazali AM, Ismail AK, Abdul-Aziz NM
    Trop Biomed, 2021 Dec 01;38(4):568-577.
    PMID: 35001923 DOI: 10.47665/tb.38.4.100
    We report two confirmed human bite cases by Lactrodectus geometricus , also known as the brown widow spider. These are the first reported bite envenomation incidents by L. geometricus in Malaysia. The incidents occurred in Tawau, Sabah and Paka, Terengganu. Both men were bitten on their ear while putting on motorcycle helmets. The spiders appeared to have nested in the helmets. The dead specimens were collected and sent to the Invertebrate and Vertebrate Neurobiology Laboratory, Department of Parasitology, Universiti Malaya for identification. The species identity was confirmed by DNA barcoding.
  14. Aboodarda SJ, Yusof A, Abu Osman NA, Thompson MW, Mokhtar AH
    Int J Sports Physiol Perform, 2013 Mar;8(2):181-7.
    PMID: 23428490
    To identify the effect of additional elastic force on the kinetic and kinematic characteristics, as well as the magnitude of leg stiffness, during the performance of accentuated countermovement jumps (CMJs).
  15. Tay ST, Mokhtar AS, Low KC, Mohd Zain SN, Jeffery J, Abdul Aziz N, et al.
    Med Vet Entomol, 2014 Aug;28 Suppl 1:104-8.
    PMID: 25171613 DOI: 10.1111/mve.12075
    Rickettsioses are emerging zoonotic diseases reported worldwide. In spite of the serological evidence of spotted fever group rickettsioses in febrile patients in Malaysia, limited studies have been conducted to identify the animal reservoirs and vectors of rickettsioses. This study investigated the presence of rickettsiae in the tissue homogenates of 95 wild rats and 589 animal ectoparasites. Using PCR assays targeting the citrate synthase gene (gltA), rickettsial DNA was detected in the tissue homogenates of 13 (13.7%) wild rats. Sequence analysis of the gltA amplicons showed 98.6-100% similarity with those of Rickettsia honei/R. conorii/R. raoultii (Rickettsiales: Rickettsiaceae). Sequence analysis of outer membrane protein A gene (ompA) identified Rickettsia sp. TCM1 strain from two rats. No rickettsia was detected from Laelaps mites, Rhipicephalus sanguineus and Haemaphysalis bispinosa ticks, and Felicola subrostratus lice in this study. R. felis was identified from 32.2% of 177 Ctenocephalides felis fleas. Sequence analysis of the gltA amplicons revealed two genotypes of R. felis (Rf31 and RF2125) in the fleas. As wild rats and cat fleas play an important role in the enzoonotic maintenance of rickettsiae, control of rodent and flea populations may be able to reduce transmission of rickettsioses in the local setting.
  16. Goh SL, Mokhtar AH, Mohamad Ali MR
    J Sports Med Phys Fitness, 2013 Feb;53(1):65-70.
    PMID: 23470913
    The aim of the study was to examine sports injury pattern and establish cost of injuries in relation to training of 58 competitive badminton players in a Malaysian National Sports School.
  17. George E, George R, Ariffin WA, Mokhtar AB, Azman ZA, Sivagengei K
    Med J Malaysia, 1993 Sep;48(3):325-9.
    PMID: 8183146
    The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective and rapid method for the identification of the beta-thalassaemia mutations. Six different mutations were detected. Seventy five percent of the patients were Chinese-Malaysians and showed the commonly occurring anomalies: 1. frameshift codon 41 and 42 (-TCTT); 2. the C to T substitution at position 654 of intron 2 (IVS-2); 3. the mutation at position -28(A to G); and the nonsense mutation A to T at codon 17. In the Malays, the common mutations seen were: 1. the G to C mutation at position 5 of IVS-1; 2. the G to T mutation at position 1 of intron 1 (IVS-1); and the A to T at codon 17. The delineation of the specific mutations present will enable effective prenatal diagnosis for beta-thalassaemia to be instituted.
  18. Muna KA, Mokhtar A, Saad MA, Ahmed AA, Akbar JB
    MyJurnal
    Introduction: Leptin is an adipokine that has strong correlation with the body mass index (BMI). Gestational diabetes mellitus (GDM) is a common medical complication associated with pregnancy. Leptin may lose its correlation with the body mass index (BMI) during diabetes due to hormonal rearrangement. Diet control is the first line management in GDM. Leptin reported to increase in pregnancy and further increases in diabetic patients during GDM screening. There is paucity in the reports concerning Leptin levels in GDM patients on diet control. The present study was aimed to evaluate the changes in maternal leptin in pregnancy complicated by GDM on diet control compared to the normal pregnancy in the 3rd trimesters by comparing the means and to find the correlation of Leptin with the body mass index in both groups.
    Methods: The study included 2 groups: normal pregnancy (n = 40) and pregnancy with GDM under diet control (n = 60) both groups are at 38-40 weeks of gestation. Leptin concentration in serum was measured in both groups and statistically tested using student t test. The BMI were measured and correlated with the Leptin level in test groups.
    Results: the results indicated that Leptin will nearly triple in the third trimester (38±30 ng/ml) of pregnancy compared to the standard normal non-pregnant. Leptin level was significantly lower in diabetic women on diet control (28±16 ng/ ml) when compared with the non-diabetics (38±30 ng/ml). The hormone has no correlation with the age of the patients but have a positive correlation with the body mass index before and during pregnancy in both groups.
    Conclusion: Leptin is increasing in pregnancy as part of the physiological changes. Dieting can decrease Leptin level in diabetics’ pregnant women. Diet can restore the hormonal dysregulation of Leptin. Assessment of Leptin level might be used as an indicator for good diet control during pregnancy.
    Study site: Hospital Tengku Ampuan Afzan (HTAA), Kuantan, Pahang, Malaysia
  19. Yaacob R, Zainal Mokhtar A, Abang Jamari DZH, Jaafar N
    BMJ Case Rep, 2017 Sep 23;2017.
    PMID: 28942402 DOI: 10.1136/bcr-2017-220801
    Fetus-in-fetu (FIF) is a rare entity in which malformed parasitic twin grows inside the body of its twin. It is most commonly presented with mass in the abdomen. We present a case of a 15-year-old boy who presented with abdominal mass since infancy. Radiological investigations are suggestive of FIF. Intraoperatively, malformed fetus in a sac was found and excised. Postoperatively the patient recovers well and was put on follow-up.
  20. George E, Mokhtar AB, Azman ZA, Hasnida K, Saripah S, Hwang CM
    Singapore Med J, 1996 Oct;37(5):501-4.
    PMID: 9046203
    Haemoglobin Bart's hydrops fetalis is the result of complete absence of functional alpha-globin genes where the fetus is homozygous for the alpha 0-thal gene. Prenatal diagnosis can be made by analysis of fetal DNA from chorionic villus, amniotic cells and fetal blood. Earlier studies for analysing genomic DNA needed digestion with restriction enzymes and hybridisation to radiolabelled probes which took 2 weeks. We have used the polymerase chain reaction (PCR) and non-radioactive primers to identify specific target sequences with results available within 1-3 days for the diagnosis of haemoglobin Bart's syndrome. With fetal blood samples, complete absence of alpha-chain synthesis is confirmed by globin chain electrophoresis on cellulose acetate pH 6.0.
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