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Fulltext Gender Socialisation and its Relation to Women’s Work and Family Conflict

NWANESI PETER KARUBI, ELAINE CHAI YEE NING

Trends in Undergraduate Research, 2018;1(1):0-0.
MyJurnal

This article examines the impact of gender socialization in Malaysian families, especially on daughters regarding their perception towards work inside and outside the home. Hence, this study utilized in-depth interview as part of the qualitative methods to obtain quality data needed. The study establishes, that patriarchy environment, especially one with the classic model of ‘breadwinner father, housewife mother’ creates a pressure on women to bear more household responsibility. Thus, the dominant gender ideologies are entangled with ‘motherhood mandate’ and ‘superior feminine virtue’ that is associated with the reason women left the labour force. It was equally necessary to point out here that other agents of socialization such as media, peers and education played its part as well and influenced the respondent’s conformity to patriarchal values.

Matched MeSH terms: Fathers
Fulltext Association between home environment, dietary practice, and physical activity among primary school children in Selangor, Malaysia

Woon, F.C., Chin, Y.S., Kaartina, S., Fara Wahida, R., Hiew, C.C., Mohd Nasir, M.T.

Malays J Nutr, 2014;20(1):1-14.
MyJurnal

Introduction: The home environment plays an influential role in affecting dietary and physical activity practices of children. This study aimed to determine the association between the home environment, dietary practice and physical activity among primary school children in Selangor. Methods: This cross-sectional study was conducted in five primary schools selected using multistage stratified sampling. A total of 293 children (32.8% males and 67.2% females) (mean age of 11.0±0.9 years) and their parents (10.7% fathers and 89.3% mothers) completed the study. Dietary practice of the children was assessed using a two-day dietary recall. Energy expenditure and physical activity of the children were assessed using a two-day physical activity recall. Parents of the children completed the Home Environment Survey (HES). Results: The mean energy intake of the children was 1765±416 kcal/day with 75.0% not achieving the Malaysian Recommended Nutrient Intake (RNI) for energy. Almost all children (96.5%) were physically inactive, with a mean energy expenditure of 1269±342 kcal/day. High availability of fruit/vegetable at home was associated with high vegetable intake (r=0.128, p

Matched MeSH terms: Fathers
Fulltext Religious perception and other associated factors of smoking among male secondary school students in Kota Bharu, Kelantan

Fadhli, Y., Zulkifli, A., Razlan, M.

Malaysian Journal of Public Health Medicine, 2005;5(2):58-63.
MyJurnal

This is a cross-sectional study to determine the association between religious perception and smoking behavior of secondary male students in Kota Bharu, Kelantan. A self-administered questionnaire survey was conducted on 526 secondary four male students from eight randomly selected schools in Kota Bharu. There were 182 (34.6%) students who were current smokers, 12 (2.3%) were ex-smokers and 332 (63.1%) were non·smokers. More than half of the current smokers (53.4%) smoked regularly. Student’s perceptions on the religious opinion on smoking were signihcantly associated with smoking behavior. Other significant risk factors were having close friends who smoke, their perceptions on benefits and negative effects of smoking and the level of
y relationship with their fathers. These factors were also found to be good predictors of student's smoking status. Health education programs to control smoking should include the religious aspect of smoking to improve it’s effectiveness.

Matched MeSH terms: Fathers
Fulltext Environmental tobacco smoke and its association with asthma like symptoms among Malaysian children under 6 years old

Azmawati M.N., Aisah M., Norfazilah A.

Malaysian Journal of Public Health Medicine, 2015;15(2):49-59.
MyJurnal

Children less than 6 years old are the most vulnerable group to get harm from Environmental Tobacco Smoke (ETS) exposure, especially their respiratory system. To determine the prevalence of ETS exposure and its association with asthma like symptoms among children less than 6 years old. A cross sectional study was conducted in between January till April 2014 among parents with children less than 6 years old in Selangor, Malaysia. A total of 142 parents were selected by simple random sampling and data were collected using guided questionnaire on ETS exposure and asthma like symptoms (cough and wheeze) among their children. A total of 52.8% of children found to be exposed to ETS, and 43.7% were exposed from their father. ETS exposure significantly associated with cough without cold (adjusted OR=5.46, 95% CI 2.37, 12.61), dry cough at night (adjusted OR=3.74, 95%CI 1.41, 9.95) and cough upon physical activity (adjusted OR=3.08, 95% 1.07, 8.89) among these children. Children less than 6 years old are vulnerable to respiratory problem due to ETS exposure especially on cough symptoms. More strategies should be developing to reduce the exposure to ETS.

Matched MeSH terms: Fathers
Fulltext Susceptibility to smoking as a predictor of smoking initiation among adolescents - a longitudinal study in Kota Tinggi District, Malaysia

Lim, K.H., Sumarni, M.G., Kee, C.C., Amal, N.M., Norhamimah, A.

Medicine & Health, 2011;6(1):49-58.
MyJurnal

Susceptibility to smoking, which is defined as a lack of cognitive commitment not to smoke in the future, has been shown to be a predictor for adolescent smoking initiation in developed countries. This study aims to evaluate the utility of a susceptibility-tosmoke measure as a predictor of smoking initiation among adolescents in Kota Tinggi district, Johor Malaysia. Susceptibility to smoking was evaluated among 1763 adolescents at baseline using a two-item construct. At follow-up 12 months later, 1288 of the 1763 adolescents (73.1%) responded. Results showed 14.9% (n=188/1260) of the respondents were susceptible to smoking at baseline. Among the susceptible adolescents, 31.9% initiated smoking after one year. Respondents who were identified as susceptible to smoking by the measure were 3.7 times (95%; CI: 2.17- 6.30) more likely to initiate smoking compared to non-susceptible respondents after adjusting for gender, school locality, percentage of friends who smoke, father smoking, parental acceptance of smoking, and belief in the positive and negative consequences of smoking. The findings suggest that the susceptibility measure is a reliable predictor and can be used as a screening tool to identify adolescents who are at risk of initiating smoking.

Matched MeSH terms: Fathers
Missed opportunities and "abuse" in ambulatory paediatric practice: a prospective simulated patient study in the Klang Valley

Mohd Nordin M, Wong YY, Suleiman AB

Malaysian Journal of Child Health, 1993;5(1):45-50.
MyJurnal

The objective of the study is to investigate the extent of preventive and promotive health care in the ambulatory management of paediatric gastroenteritis in an incompletely immunised child using the simulated patient methodology. Only 44% of doctors explained to the fathers the nature of their child's ailment. 75% of clinicians prescribed oral rehydration solution but only 4% met the Gold Standard. The questionnaire survey showed that doctors rated immunisation as a very important health message to disseminate to all parents. But only 3% of doctors in the study advised parents to complete each child's immunisation once he is well. The extent of preventive and promotive health care in ambulatory paediatric practice in the Klang Valley is very low. (Copied from article).

Matched MeSH terms: Fathers
Fulltext Students’ perceptions on tobacco free school: an analytic cross sectional study

Rahman, M., Ahmad, S.A., Karim, J., Azhar, A., Rafidah, D.

Malaysian Journal of Public Health Medicine, 2012;12(2):45-51.
MyJurnal

Participation and adherence to the law and cultivation of anti-tobacco culture became the important issues for reducing the tobacco use prevalence in the community. Measuring the perception of tobacco policy indirectly measures the acceptability of the law. This study aims to determine the perception of students on anti-tobacco policy in terms of tobacco free school environment and factors that support or deter them. A two-stage cluster samplingtechnique was used for selection of schools with probability proportional to enrolment size followed by stratified random sampling of government and private schools. Data were collected from 6563 secondary school students using
structured questionnaire. Analysis showed that 66.2% of the female students and 33.8% of the male student have strong supportive attitude towards tobacco free school environment. Logistic regression analysis revealed that class grade IX and above, father’s occupation as service, family size less than 6, higher economic status, non smoker, non exposure to second hand smoking in the house and discussion of dangers of smoking appeared to have important influencing factors for tobacco free school environment (p

Matched MeSH terms: Fathers
Fulltext Psychosocial problem and its associated factors among adolescents in the secondary schools in Pasir Gudang, Johor

Latiffah Abdul Latiff, Esra Tajik, Shirin Shameema Albar Ali Shirin, Normala Ibrahim, Azrin Shah Abu Bakar

Malaysian Journal of Medicine and Health Sciences, 2017;13(1):35-44.
MyJurnal

Introduction: Adolescence is a crucial period with impressive emotional changes. Emotional disorders such as
depression, anxiety and stress are high among adolescents worldwide; however the psychosocial changes are often
neglected. The aim of the current study was to determine the depression, anxiety and stress symptoms and their
associated factors among adolescents. Methods: A cross-sectional study using cluster sampling was carried out
among school-going adolescents in 10 secondary schools in Pasir Gudang, Johor, Malaysia. Respondents answered
a self-administered questionnaire including socio-demographic, Inventory of Parent and Peer Attachment (IPPA),
Depression Anxiety Stress Scale-21 (DASS-21) and Strength and Difficulties Questionnaire (SDQ). Using SPSS-21,
chi-square test and binomial logistic regression were conducted to examine the associations between dependent and
independent variables. Results: Respondents (52.6% female and 53.9% Malay) had 46.0% prevalence of depression
symptoms, 59.1% anxiety, 38.1% stress and 45.6% psychosocial status (internalizing and externalizing problems).
Age, father occupation and parental bonding were significantly predicted having moderate to extremely severe
depression symptom (p

Matched MeSH terms: Fathers
Fulltext Von Hippel - Lindau disease

Muhamad Nor S, Haron J

Malays Fam Physician, 2017;12(1):29-31.
PMID: 28503272

Von Hippel-Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in both patients.

Matched MeSH terms: Fathers
Malaysian Parent Ratings of the Strengths and Difficulties Questionnaire: Factor Structure and Measurement Invariance Across Language Versions, Gender, Informants, and Race

Gomez R, Stavropoulos V

Assessment, 2020 12;27(8):1971-1984.
PMID: 30003809 DOI: 10.1177/1073191118787284

For a Malaysian sample, the current study used exploratory factor analysis (EFA) to determine the best model for parent ratings of the Strengths and Difficulties Questionnaire (SDQ), and then multiple-group confirmatory factor analysis (MCFA) to confirm this model, and to examine measurement invariance across different language versions (Malay and English), child's gender (boys and girls), informants (mothers and fathers), and racial groups (Malay, Chinese, and Indians). In all 1,407 Malaysian parents completed SDQ ratings of their children (age ranging from 5 to 13 years). The EFA showed most support for a two-factor model oblique model, with factors for a positive construal factor and a psychopathology factor. CFA confirmed this model, and MCFA showed full measurement invariance (configural, metric. and scalar) across the groups in the different comparisons. For all comparisons, there were equivalencies for latent mean scores. The implications of the findings for clinical and research practice involving the SDQ in Malaysia are discussed.

Matched MeSH terms: Fathers
Fulltext Perceived stress among malay caregivers of children with learning disabilities in Kelantan

Siti Nor Ismalina Isa, Nur Zakiah Mohd Saat, Syarif Husin Lubis, Muhammad Faiz Mohd Ismail, Ismarulyusda Ishak

Jurnal Sains Kesihatan Malaysia, 2016;14(2):69-77.
MyJurnal

Parents or caregivers of children with learning disabilities have been shown to experience increases in stress and greater negative caregiving consequences than those with typically developing children. The current study sought to assess the perceived stress among Malay caregivers of children with learning disabilities in Kelantan. The Malay version of Perceived Stress Scale 10 items was administered to a sample of 40 caregivers of children with learning disabilities who were registered to five Pusat Pemulihan Dalam Komuniti (PDK) in Kelantan. Higher scores indicate higher levels of stress. The caregivers had mean age of 47.68 (SD = 9.18) years old, of whom 90% were fathers or mothers. Ninety percent of them were married, majority were unemployed or housewives and had secondary school education. The majority of children with learning disabilities were males and half of them were Down Syndrome children. The mean total Perceived Stress Scale score of the caregivers was 16.77 (SD = 5.74). There were no significant associations between total perceived stress score and any of the independent variables. The mean total perceived stress score showed that the perceived stress level was in the category of slightly higher than average and health concern level was high, while the average stress level was between score of 12 to 15. In conclusion, this result indicated that the caregivers had slightly higher levels of stress than the average score, and might increase susceptibility to stress-induced illness.

Matched MeSH terms: Fathers
Fulltext Pengaruh konflik kerja-keluarga terhadap kepuasan hidup dalam kalangan ibu bapa bekerja

Noorazwana M

Jurnal Psikologi Malaysia, 2017;31:19-30.

In the era of globalization, role in work and role in the family has experienced significant change especially for working parents. The equilibrium claim in both roles such as the role of the job and the role of the family is strongly emphasized in ensuring that working parents can manage their life and perform well. The aim of this study was to identify the influence of work-family conflicts such as timebased conflicts, strain-based conflicts and behavior-based conflicts towards life satisfaction among working parents. A total of 378 respondents in this study consisted of mothers and fathers working in the Public Department around Kota Kinabalu, Sabah. Respondents were selected using the purposive sampling method where the researcher had determined the characteristics of respondents such as the status of the respondent should be married (living with spouse) and at least have one child. The WorkFamily Conflict Scale (WFCS) and Satisfaction With Life Scale (SWLS) questionnaire were used to see the influence of work-family conflicts towards life satisfaction especially among working parents. The findings were analyzed using the Statistical Package for Social Sciences (SPSS) version 23.0. Simple Linear Regression Analysis was used in this study. The findings show that there are negative and significant influences in time-based conflicts, strain-based conflicts and behavior-based conflicts towards life satisfaction among working parents. The implications and recommendations of the study were also discussed.

Matched MeSH terms: Fathers
Fulltext Von Hippel–Lindau disease

Juhara Haron, Siti Noorul Arisah Bt Muhamad Nor

Malays Fam Physician, 2017;12(1):29-31.
MyJurnal

Von Hippel–Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder
characterised by the development of a variety of benign and malignant tumours. We report a case of
VHL disease that was inherited by a daughter from her father, who both presented at a young age
with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on
magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in
both patients.

Matched MeSH terms: Fathers
Fulltext Parent-adolescent relationships and its association to adolescents' self-esteem

Yaacob MJ

Malays J Med Sci, 2006 Jan;13(1):21-4.
PMID: 22589586

Psychoanalysts believed that early mother-child relationships form the prototype of all future relationships and the outcome of adolescents development depends on their ego-strength. Object relations theory believed that intrapsychic process mediates interpersonal interaction to develop a sense of secure self and adolescents must relinquish the internalized other in order to develop a more mature sense of self. Social-relation theory believed that mothers and fathers provide different socialization experiences. Self-esteem depends on the functioning of the whole family in which adolescent is intimately related to the dyadic relationship in a family. There is an association between interparental conflict and adolescent's self-esteem and problem behaviour.

Matched MeSH terms: Fathers
Depressive symptoms in men immediately after birth

Abdollahi F, Lye MS, Yazdani Cherati J, Zarghami M

J Psychosom Res, 2021 12;151:110650.
PMID: 34739946 DOI: 10.1016/j.jpsychores.2021.110650

OBJECTIVE: Depression is the second leading cause of morbidity worldwide. This study aimed to assess the prevalence and associated risk factors of paternal postpartum depressive symptoms (PPD).
METHODS: In a cross-sectional study, via a stratified random and convenience sampling method 591 couples who were referred to Mazandaran primary health centers between 2 and 8 weeks postpartum were recruited from March to October 2017. Couples were screened for depressive symptoms using Edinburgh Postnatal Depression Scale (EPDS). Fathers provided information on socio-demographic characteristics, life events, neonatal stressor, perceived stress (Perceived Stress Scale), social support (Multidimensional Scale of Perceived Social Support), and general health status using General Health Questionnaire (GHQ-12) as well. Data was analyzed using multiple logistic regression.
RESULTS: Overall, 93 fathers (15.7%) and 188 mothers (31.8%) reported depressive symptoms above the cut-off EPDS score of 12. In the multiple logistic regression model, older age, maternal depressive symptoms, higher GHQ-12 scores and increased recent life events were related to paternal PPD. A significant inverse association was found between number of children and paternal PPD.
CONCLUSION: Depressive symptoms especially in first-time fathers following the birth of a child are not uncommon. Creating opportunities for men to access special health care services, parental education to help adapting to parenthood, screening programs, and psychiatric/psychosocial interventions to decrease suffering of depression for both depressed parents are recommended.

Matched MeSH terms: Fathers
Fulltext Male involvement in maternal health: perspectives of opinion leaders

Aborigo RA, Reidpath DD, Oduro AR, Allotey P

BMC Pregnancy Childbirth, 2018 01 02;18(1):3.
PMID: 29291711 DOI: 10.1186/s12884-017-1641-9

BACKGROUND: Twenty years after acknowledging the importance of joint responsibilities and male participation in maternal health programs, most health care systems in low income countries continue to face challenges in involving men. We explored the reasons for men's resistance to the adoption of a more proactive role in pregnancy care and their enduring influence in the decision making process during emergencies.
METHODS: Ten focus group discussions were held with opinion leaders (chiefs, elders, assemblymen, leaders of women groups) and 16 in-depth interviews were conducted with healthcare workers (District Directors of Health, Medical Assistants in-charge of health centres, and district Public Health Nurses and Midwives). The interviews and discussions were audio recorded, transcribed into English and imported into NVivo 10 for content analysis.
RESULTS: As heads of the family, men control resources, consult soothsayers to determine the health seeking or treatment for pregnant women, and serve as the final authority on where and when pregnant women should seek medical care. Beyond that, they have no expectation of any further role during antenatal care and therefore find it unnecessary to attend clinics with their partners. There were conflicting views about whether men needed to provide any extra support to their pregnant partners within the home. Health workers generally agreed that men provided little or no support to their partners. Although health workers had facilitated the formation of father support groups, there was little evidence of any impact on antenatal support.
CONCLUSIONS: In patriarchal settings, the role of men can be complex and social and cultural traditions may conflict with public health recommendations. Initiatives to promote male involvement should focus on young men and use chiefs and opinion leaders as advocates to re-orient men towards more proactive involvement in ensuring the health of their partners.

Matched MeSH terms: Fathers/psychology
Fulltext The association between tobacco and the risk of asthma, rhinoconjunctivitis and eczema in children and adolescents: analyses from Phase Three of the ISAAC programme

Mitchell EA, Beasley R, Keil U, Montefort S, Odhiambo J, ISAAC Phase Three Study Group

Thorax, 2012 Nov;67(11):941-9.
PMID: 22693180 DOI: 10.1136/thoraxjnl-2011-200901

BACKGROUND: Exposure to parental smoking is associated with wheeze in early childhood, but in 2006 the US Surgeon General stated that the evidence is insufficient to infer a causal relationship between exposure and asthma in childhood and adolescents.
AIMS: To examine the association between maternal and paternal smoking and symptoms of asthma, eczema and rhinoconjunctivitis.
METHODS: Parents or guardians of children aged 6-7 years completed written questionnaires about symptoms of asthma, rhinoconjunctivitis and eczema, and several risk factors, including maternal smoking in the child's first year of life, current maternal smoking (and amount) and paternal smoking. Adolescents aged 13-14 years self completed the questionnaires on these symptoms and whether their parents currently smoked.
RESULTS: In the 6-7-year age group there were 220 407 children from 75 centres in 32 countries. In the 13-14-year age group there were 350 654 adolescents from 118 centres in 53 countries. Maternal and paternal smoking was associated with an increased risk of symptoms of asthma, eczema and rhinoconjunctivitis in both age groups, although the magnitude of the OR is higher for symptoms of asthma than the other outcomes. Maternal smoking is associated with higher ORs than paternal smoking. For asthma symptoms there is a clear dose relationship (1-9 cigarettes/day, OR 1.27; 10-19 cigarettes/day, OR 1.35; and 20+ cigarettes/day, OR 1.56). When maternal smoking in the child's first year of life and current maternal smoking are considered, the main effect is due to maternal smoking in the child's first year of life. There was no interaction between maternal and paternal smoking.
CONCLUSIONS: This study has confirmed the importance of maternal smoking, and the separate and additional effect of paternal smoking. The presence of a dose-response effect relationship with asthma symptoms suggests that the relationship is causal, however for eczema and rhinoconjunctivitis causality is less certain.

Matched MeSH terms: Fathers/statistics & numerical data
Stress, Anxiety, Depression and Sleep Disturbance among Jordanian Mothers and Fathers of Infants Admitted to Neonatal Intensive Care Unit: A Preliminary Study

Al Maghaireh DF, Abdullah KL, Chong MC, Chua YP, Al Kawafha MM

J Pediatr Nurs, 2017 06 19;36:132-140.
PMID: 28888494 DOI: 10.1016/j.pedn.2017.06.007

PURPOSE: To investigate the stressors and stress levels among Jordanian parents of infants in the NICU and their relationship to three factors: anxiety, depression and sleep disturbance.
DESIGN AND METHODS: A cross-sectional survey was conducted in two hospitals in Jordan among 310 parents of infants in the NICU by using PSS: NICU and PROMIS.
RESULTS: Both parents experienced high levels of stress, anxiety, depression and sleep disturbance. There was a significant difference in stress level between mothers and fathers [t (308)=3.471, p=0.001], with the mothers experiencing higher stress than the fathers [mean: mothers=108.58; fathers=101.68]. The highest and lowest sources of stress were infant behavior and appearance (M=4.09) and sights and sounds in the NICU (M=3.54), respectively. The correlation between stress levels with anxiety (r=0.79) and depression (r=0.75) was strong and positive while sleep disturbance was significant and moderate (r=0.43).
CONCLUSIONS: The mothers experienced higher levels of stress compared to fathers, with positive correlations between stress and anxiety, depression and sleep disturbance.
PRACTICAL IMPLICATIONS: The findings of this study create nursing awareness of parent stress and its impact, which will help them to improve nursing care for parents.

Matched MeSH terms: Fathers/psychology
Fulltext Prevalence and determinants of antepartum depressive and anxiety symptoms in expectant mothers and fathers: results from a perinatal psychiatric morbidity cohort study in the east and west coasts of Malaysia

Nasreen HE, Rahman JA, Rus RM, Kartiwi M, Sutan R, Edhborg M

BMC Psychiatry, 2018 06 15;18(1):195.
PMID: 29902985 DOI: 10.1186/s12888-018-1781-0

BACKGROUND: Research on antepartum psychiatric morbidities investigating depressive and anxiety symptoms in expectant mothers and fathers is lacking in low- and middle-income countries. This study aimed to estimate the prevalence of antepartum depressive, anxiety and co-occurring significant symptoms and explore the associated factors in a cross-section of Malaysian expectant mothers and fathers.

METHODS: We used cross-sectional data from a prospective cohort study of 911 expectant mothers and 587 expectant fathers during their third trimester of pregnancy, from health clinics of two states in the east and west coasts of Malaysia. The validated Malay version of Edinburgh Postnatal Depression Scale and the anxiety sub-scale of Depression, Anxiety and Stress Scale were used to measure the depressive and anxiety symptoms. Multiple logistic regression analyses identified the determinants of antepartum depressive and anxiety symptoms (ADS and AAS).

RESULTS: Prevalence of ADS was 12.2% in expectant mothers and 8.4% in expectant fathers, while AAS was 28.8% in expectant mothers and 13.3% in expectant fathers, and co-occurring significant symptoms was 8.0% in expectant mothers and 4.0% in expectant fathers. Expectant mothers and fathers having perceived social/family support were less likely to suffer from ADS. Intimate partner violence, poor relationship with husbands, depression in earlier pregnancy and husband's depression in current pregnancy in expectant mothers, and living in rented house, sex preference for the unborn child, stressful life events and wife's depression in current pregnancy in expectant fathers were associated with a greater likelihood of ADS. The determinants for AAS were living in rented house and with parents/in-laws, poor relationship with husbands, restrictions during pregnancy and stressful life events for expectant mothers, and stressful life events and being unsupportive towards wives in household chores for expectant fathers.

CONCLUSION: Both ADS and AAS are prevalent in expectant mothers and fathers, and largely an undetected problem in Malaysia. Administration of couple-based screening and referral program during antenatal check-up should be universal practices to identify and treat the psychiatric morbidities.

Matched MeSH terms: Fathers/psychology*
Fulltext A family study of HbS in a Malay family by molecular analysis

Hafiza A, Noor HH, Noor FA, Azlin I, Ainoon O

Malays J Pathol, 2010 Dec;32(2):137-41.
PMID: 21329186 MyJurnal

Sickle cell disease (SCD) is an inherited red cell disorder, characterized by the tendency of haemoglobin S or sickle haemoglobin to polymerize and assume a characteristic sickle shape. Molecular analysis has been the mainstay of detection method when confirmation is required. Previously a polymerase chain reaction (PCR)-based restriction enzyme analysis was used for this purpose. A simple bidirectional allele-specific amplification, recently described by Waterfall in 2001 was used to detect the GAG --> GTG mutation on codon 6 of the beta globin gene. Two sets of primers for the mutant and the wild type alleles were used in a single PCR reaction to amplify the regions of interest. The resultant PCR products will produce two fragments at 517 and 267 base pair (bp) respectively. This report highlights the investigations for SCD in the family of a 16-year old girl with recurrent painful crisis affecting the lower limbs whereby the family members are asymptomatic for the disease. Her haemoglobin electrophoresis at an alkaline pH showed dense bands at the HbS and HbF regions, while her father and two sisters had bands at HbS, HbF and HbA. The PCR analysis showed that she was homozygous for the mutation by the presence of only one band at 267 bp fragment, while the father and her sisters were heterozygotes, with the presence of two bands at 267 as well as 517 bp fragments. DNA sequencing of the sample confirmed the mutation. In conclusion, this case report highlighted the simple and cheap yet practical method for molecular confirmation of the presence of HbS gene in subjects with homozygous or heterozygous state of the condition.

Matched MeSH terms: Fathers

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