1.Evaluation of Thalassaemia Screening Tests in the Antenatal and Non-Antenatal Populations in Singapore.
Shir Ying LEE ; Eng Soo YAP ; Elaine Yp LEE ; Jia Hui GOH ; Te Chih LIU ; Christina YIP
Annals of the Academy of Medicine, Singapore 2019;48(1):5-15
INTRODUCTION:
Haemoglobinopathy testing is performed for carrier screening and evaluation of microcytic anaemia. We evaluated the effectiveness of thalassaemia screening tests at our institution and suggest ways of improving the testing algorithm.
MATERIALS AND METHODS:
A total of 10,084 non-antenatal and 11,364 antenatal samples with alkaline gel electrophoresis (AGE), capillary electrophoresis (CE), haemoglobin H (HbH) inclusion test, mean corpuscular haemoglobin (MCH) and mean corpuscular volume (MCV) were retrospectively reviewed. A subgroup of 187 samples with genetic testing was correlated with HbH inclusions and MCH/ MCV. The effect of iron deficiency on percentage hemoglobin A2 (HbA2) was studied.
RESULTS:
HbH inclusion test showed low sensitivity of 21.43% for α-thalassaemia mutations but higher sensitivity of 78.95% for deletion. By receiver operating characteristic (ROC) analysis, MCH ≤28 pg or MCV ≤80 fl for non-antenatal samples and MCH ≤27 pg or MCV ≤81 fl for antenatal samples had >98% sensitivity for HbH inclusions. Above these thresholds, the probability that HbH inclusions would be absent was <99% (negative predictive value [NPV] >99%). MCH ≥28 pg had 100% sensitivity (95% CI 95.63%-100%) for α-thalassaemia mutations and 97.68% calculated NPV in the antenatal population. Detection of haemoglobin variants by CE correlated highly with AGE (99.89% sensitivity, 100% specificity). Severe iron deficiency reduced HbA2 in hemoglobin ( <0.001) and α-thalassaemia ( = 0.0035), but not in β-thalassaemia.
CONCLUSION
MCH/MCV thresholds have adequate sensitivity for α-thalassaemia in the antenatal population, and genotyping plays an important role as HbH inclusion test shows low sensitivity. CE without AGE, may be used as initial screening for haemoglobin variants. Our study provides contemporary data to guide thalassaemia screening algorithms in Singapore.
Blood Protein Electrophoresis
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Electrophoresis, Capillary
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Erythrocyte Inclusions
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pathology
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Erythrocyte Indices
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Female
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Genetic Testing
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Hemoglobin H
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analysis
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Humans
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Male
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Mass Screening
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Pregnancy
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Pregnancy Complications, Hematologic
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blood
;
diagnosis
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Retrospective Studies
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Sensitivity and Specificity
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Singapore
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alpha-Thalassemia
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blood
;
diagnosis
3.Interpretation of the Guidance for Immune Thrombocytopenia-Review.
Xiao-Yang YANG ; Meng-Jie WAN ; Fang-Ping CHEN
Journal of Experimental Hematology 2018;26(2):621-625
Since the American Medical Association published the 2011 guidelines for immune thrombocytopenia, China has been the first to update the guidelines for immune thrombocytopenia based on evidence-based medicine. Recently, there have been many breakthroughs in clinical research published, especially the Chinese medical workers have made a prominent contribution to the treatment of the immune thrombocytopenia. However, the references of systematic drug introduction for children, adults, aged and pregnant women are still insufficient, and the first or second line treatment for some patients were ineffective. Therefore, we tried to combine the references to interpret the guidelines, to explore the advantages and disadvantages of each treatment, to find out the bottleneck of clinical treatment, so as to facilitate the implementation and understanding of the guidelines, then update the next guideline.
China
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Female
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Humans
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Pregnancy
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Pregnancy Complications, Hematologic
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Thrombocytopenia
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United States
4.Comparison in executive function in Chinese preterm and full-term infants at eight months.
Yao FENG ; Hong ZHOU ; Yan ZHANG ; Anthony PERKINS ; Yan WANG ; Jing SUN
Frontiers of Medicine 2018;12(2):164-173
Executive function (EF) is increasingly recognized as being responsible for adverse developmental outcomes in preterm-born infants. Several perinatal factors may lead to poor EF development in infancy, and the deficits in EF can be identified in infants as young as eight months. A prospective cohort study was designed to study the EF in Chinese preterm infants and examine the relationship between EF in preterm infants and maternal factors during perinatal period. A total of 88 preterm infants and 88 full-term infants were followed from birth to eight months (corrected age). Cup Task and Planning Test was applied to assess the EF of infants, and the Bayley Scale of Infant Development (BSID-III) was used to evaluate cognitive (MDI) and motor abilities (PDI) of infants. In comparison with full-term infants, the preterm infants performed more poorly on all measures of EF including working memory, inhibition to prepotent responses, inhibition to distraction, and planning, and the differences remained after controlling the MDI and PDI. Anemia and selenium deficiency in mothers during pregnancy contributed to the differences in EF performance. However, maternal depression, hypertension, and diabetes during pregnancy were not related to the EF deficits in preterm infants. Future research should focus on the prevention of anemia and selenium deficiency during pregnancy and whether supplementing selenium in mothers during pregnancy can prevent further deterioration and the development of adverse outcomes of their offspring.
Adult
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Anemia
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physiopathology
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Child Development
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China
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Executive Function
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Female
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Humans
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Infant
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Infant, Premature
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physiology
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Linear Models
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Male
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Memory, Short-Term
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Mother-Child Relations
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Pregnancy
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Pregnancy Complications, Hematologic
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physiopathology
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Prospective Studies
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Term Birth
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physiology
7.Study on the Hemoglobin levels among the Tibetan pregnant women in rural Lhasa.
Yijun KANG ; Fangzhen LI ; Shaonong DANG ; Hong YAN ; Lingxia ZENG ; Yue CHENG ; Qiang LI ; Yuxue BI
Chinese Journal of Preventive Medicine 2014;48(5):396-400
OBJECTIVETo understand the level of hemoglobin (Hb) and determine the risk factors of Hb concentration among the Tibetan pregnant women in rural Lhasa.
METHODSBetween August 2008 and May 2011, a hospital-based study was conducted among 1 530 Tibetan pregnant women after getting their informed consent in agricultural and pastoral areas in maternity clinic or hospital in city, county and township level of Lhasa. Their blood samples were tested and related socio-demographic information was collected. Blood was collected on tip of finger and the Hb concentration was measured using B-Hemoglobin photometer. American Centers for Disease Control and Prevention(CDC) method was used to adjust the Hb measurements based on altitude for estimating the prevalence of anemia. Anemia was assessed according to WHO criteria. A hemoglobin concentration of less than 110 g/L in a pregnant woman was considered an indication of anemia.
RESULTSFrom August 2008 to May 2011, 1 530 Tibetan pregnant women living at (3 716.4 ± 69.1) m above sea level in rural Lhasa were examined. The findings indicated that average Hb concentration was (122.0 ± 17.5) g/L; the Hb concentration of 1(st), 2(nd) and 3(rd) trimester were (125.5 ± 18.0), (122.5 ± 16.9) and (120.6 ± 17.4) g/L, respectively. The Hb concentration of pregnant women decreased with the increase of gestational age(P < 0.05). Based onCDC method and the adjusted Hb level, the prevalence of anemia in pregnant women were 85.6% (1 310/1 530), the prevalence of anemia of 1(st), 2(nd), and 3(rd)rd trimester were 79.5% (206/259) , 86.1% (395/459)and 87.3% (698/800), respectively (P < 0.05) . The rate of moderate and severe anemia were 46.7% (612/1 310) among pregnant women. Multiple linear regression analysis showed that high Hb level was associated significantly with low family income status (β = 2.74, 95%CI:1.73-3.74), no bad habits (drinking or smoking) (β = 7.34, 95%CI:4.87-9.81) and fewer times of pregnancies(β = -1.62, 95%CI:-2.93--0.31) after adjusting for potential confounding factors.
CONCLUSIONHb concentration level in pregnancy was rather low in rural Lhasa. The increase of family income, reduction the intervals of pregnancies and no bad habits might benefit for the improvement of Hb level of pregnant women in this region.
Altitude ; Anemia ; Demography ; Female ; Hemoglobins ; Humans ; Income ; Pregnancy ; Pregnancy Complications, Hematologic ; epidemiology ; Pregnancy Trimesters ; Prevalence ; Risk Factors ; Rural Population ; Socioeconomic Factors ; Tibet
8.Thromboelastography in women with pathological pregnancies: a preliminary study.
Wei WANG ; Ai-ming WANG ; Xin-qiang HUANG ; Wen JIANG ; Xiao-ning JIA
Chinese Medical Sciences Journal 2014;29(1):63-64
ABNORMALITIES during pregnancy are regarded as pathological pregnancy. Early detection of anomalies is urgent to take measures as soon as possible to prevent serious pregnancy complications. Procoagulant-anticoagulant imbalance is often the pathological basis of many pathological pregnancy conditions, leading to a hypercoagulable state. We compared the thromboelastographic parameters between pathological pregnancy and normal pregnancy patients, evaluated the value of thromboelastography in early detecting pathological pregnancy and predicting postpartum hemorrhage.
Diabetes, Gestational
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blood
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Female
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Humans
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Postpartum Hemorrhage
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blood
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prevention & control
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Pre-Eclampsia
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blood
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Pregnancy
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Pregnancy Complications, Hematologic
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blood
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Thrombelastography
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methods
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Venous Thrombosis
;
blood
9.Effect of using population-specific body mass index cutoff points in the risk assessment of pregnant Asian women for venous thromboembolism.
Nau'shil Kaur RANDHAWA ; Eng Kien TAN ; Manali Ashok SABNIS
Singapore medical journal 2013;54(8):437-440
INTRODUCTIONCurrent international Royal College of Obstetricians and Gynaecologists (RCOG) guidelines list maternal obesity (body mass index [BMI] ≥ 30.0 kg/m2) as a risk factor for venous thromboembolism (VTE). Although the World Health Organization (WHO) has recommended lower BMI cutoff points for Asians when risk stratifying for diseases associated with obesity, this has not been extended to maternal obesity. In the present study, we compared the difference in using Asian-specific BMI cutoff points as opposed to those in international guidelines in determining the population at risk for VTE, as defined by RCOG guidelines.
METHODSAll spontaneous deliveries (n = 94) and Caesarean sections (n = 41) over a three-week period, and instrumental deliveries (n = 15) over a two-month period, were reviewed and risk stratified based on Asian-specific, as well as international, BMI cut-off points.
RESULTSFor the group that underwent spontaneous vaginal delivery, the percentage of patients at risk for VTE nearly doubled (from 8.5% to 16.0%) with the revised risk stratification, while that of patients who had instrumental delivery had more than a two-fold increase (250%). In the initial risk stratification of the post-Caesarean patients, none were at high risk of VTE. However, when the lower cut-off points of 27.5 kg/m2 and 23.0 kg/m2 were used, one and three patients were respectively identified to be at high risk.
CONCLUSIONFurther research and consideration regarding the adjustment of international risk stratification guidelines to accommodate population-specific differences are required so that at-risk patients are not missed.
Adult ; Body Mass Index ; Female ; Humans ; Obesity ; complications ; Practice Guidelines as Topic ; Pregnancy ; Pregnancy Complications, Hematologic ; ethnology ; etiology ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Singapore ; Venous Thromboembolism ; ethnology ; etiology
10.Report of a case with twin anemia-polycythemia sequence and literature review.
Ji-mei WANG ; Guo-qiang CHENG ; Bei-qian QIAN ; Yong-qin MENG
Chinese Journal of Pediatrics 2013;51(1):21-28
OBJECTIVETo summarize and review the clinical characteristics including clinical features, prenatal characteristics, diagnosis, treatments and short-term outcomes of the twin anemia-polycythemia sequence (TAPS) to improve the recognition of the disease.
METHODThe clinical data of one case with twin anemia-polycythemia sequence and the reports of 15 cases seen in the past 5 years were reviewed and analyzed.
RESULTThere was an increasing number of reports of cases with TAPS. Prenatal manifestation: among the 16 cases, TAPS occurred in 13 cases naturally and in 3 cases occurred after laser treatment. Amniotic fluid volume showed no significant difference in 16 cases. Middle cerebral artery peak systolic velocity (MCA-PSV) > 1.5 multiples of the median (MoM) in the donor were 11/16 cases and 3/16 cases were not tested. MCA-PSV < 1.0 MoM in the recipient were seen in 10/16 cases and in 3/16 cases MCA-PSV was not tested. Hydrops fetalis was found in 6/16 cases. Intrauterine intervention: intrauterine blood transfusion was performed in 4/16 cases, fetoscopic laser occlusion of chorioangiopagus vessels was performed in 4/16 cases, umbilical cord occlusion selective feticide was done in 2/16 cases and intrauterine hemodilution in the recipient was performed in 1/16 case. Postnatal manifestation: average hemoglobin concentration in the anemic neonate was 95 g/L and in the polycythemic one was 208 g/L, intertwin Hb difference was > 80 g/L in 10/16 cases and < 80 g/L in 2/16 cases (after intrauterine laser treatment). Intertwin reticulocyte count ratio was > 1.7 in 5/16 cases and < 1.7 in 1/16 case (after intrauterine laser treatment). Postnatal treatment: 9/16 cases of donor had anemia, among them, 6/16 cases were given blood transfusions, 6/16 cases of recipient with hyperviscosity underwent partial exchange transfusions. Neurodevelopmental follow-up during neonatal period was normal in 11/16 cases, in our case, neurodevelopmental follow-up at the corrected gestational age 3 months was normal.
CONCLUSIONTAPS is a new atypical form of twin-twin transfusion syndrome (TTTS) that presents as a large intertwin hemoglobin difference with one twin developing anemia and the other developing polycythemia, without oligohydramnios-polyhydramnios sequence that is required for the diagnosis of TTTS. We suggest that routine doppler studies and MCA-PSV measurements should be performed during each follow-up visit in all uncomplicated monochorionic twin pregnancies, in order to find out the cases required intrauterine intervention to decrease neonatal mortality rates and improve the prognosis.
Anemia ; diagnosis ; etiology ; therapy ; Blood Flow Velocity ; Blood Transfusion, Intrauterine ; Female ; Fetofetal Transfusion ; complications ; diagnosis ; Gestational Age ; Hemoglobins ; analysis ; Humans ; Infant, Newborn ; Laser Coagulation ; Male ; Middle Cerebral Artery ; diagnostic imaging ; physiopathology ; Polycythemia ; diagnosis ; etiology ; therapy ; Pregnancy ; Pregnancy Complications, Hematologic ; diagnosis ; therapy ; Prognosis ; Twins, Monozygotic ; Ultrasonography, Prenatal