Characteristics of Marijuana Use During Pregnancy - Eight States, Pregnancy Risk Assessment Monitoring System, 2017.

Marijuana is the most commonly used illicit substance under federal law in the United States (1); however, many states have legalized medical and adult nonmedical use. Evidence regarding the safety and health effects of cannabis use during pregnancy is largely inconclusive (2). Potential adverse health effects to exposed infants (e.g., lower birthweight) have been documented (2). To provide population-based estimates of use surrounding pregnancy, identify reasons for and mode of use, and understand characteristics of women who continue versus cease marijuana use during pregnancy, CDC analyzed data from eight states participating in the 2017 Pregnancy Risk Assessment Monitoring System (PRAMS) marijuana supplement. Overall, 9.8% of women self-reported marijuana use before pregnancy, 4.2% during pregnancy, and 5.5% after pregnancy. The most common reasons for use during pregnancy were to relieve stress or anxiety, nausea or vomiting, and pain. Smoking was the most common mode of use. In multivariable models that included age, race/ethnicity, marital status, education, insurance status, parity, trimester of entry into prenatal care, and cigarette and e-cigarette use during pregnancy, women who continued versus ceased marijuana use during pregnancy were more likely to be non-Hispanic white or other race/ethnicity than non-Hispanic black, be unmarried, have ≤12 years of education, and use cigarettes during pregnancy. The American College of Obstetricians and Gynecologists (ACOG) and the American Academy of Pediatrics (AAP) recommend refraining from marijuana use during pregnancy and lactation (3,4). Given the increasing number of states legalizing medical and adult nonmedical marijuana use, surveillance of perinatal marijuana use can inform clinical guidance, provider and patient education, and public health programs to support evidence-based approaches to addressing substance use.

Screening and Treatment for Iron Deficiency Anemia in Women: Results of a Survey of Obstetrician-Gynecologists.

Objective To better understand the knowledge, attitudes and practices of obstetrician-gynecologists with respect to screening and treatment for iron deficiency anemia (IDA). Methods A total of 1,200 Fellows and Junior Fellows of the American College of Obstetricians and Gynecologists were invited to participate in a survey on blood disorders. Respondents completed a questionnaire regarding their patient population, screening and treatment practices for IDA, and general knowledge about IDA and its risk factors. Results Overall response rate was 42.4%. Thirty-eight percent of respondents screen non-pregnant patients regularly, based on risk factors; 30.5% screen only when symptoms of anemia are present. For pregnant patients, 50.0% of respondents screen patients at their initial visit, while 46.2% screen every trimester. Sixty-one percent of respondents supplement pregnant patients when there is laboratory evidence of anemia; 31.6% supplement all pregnant patients. Forty-two percent of respondents screen post-partum patients based on their risk factors for IDA. However, when asked to identify risk factors for post-partum anemia, slightly more than half of respondents correctly identified young age and income level as risk factors for post-partum anemia; only 18.9% correctly identified pre-pregnancy obesity as a risk factor. Conclusion There are opportunities for increased education on IDA for obstetrician-gynecologists, specifically with respect to risk factors. There also appears to be substantial practice variance regarding screening and supplementation for IDA, which may correspond to variability in professional guidelines. Increased education on IDA, especially the importance of sociodemographic factors, and further research and effort to standardize guidelines is needed.

Mortality of New York children with sickle cell disease identified through newborn screening.

PURPOSE: Long-term follow-up of newborn screening for conditions such as sickle cell disease can be conducted using linkages to population-based data. We sought to estimate childhood sickle cell disease mortality and risk factors among a statewide birth cohort with sickle cell disease identified through newborn screening. METHODS: Children with sickle cell disease identified by newborn screening and born to New York residents in 2000-2008 were matched to birth and death certificates. Mortality rates were calculated (using numbers of deaths and observed person-years at risk) and compared with mortality rates for all New York children by maternal race/ethnicity. Stratified analyses were conducted to examine associations between selected factors and mortality. RESULTS: Among 1,911 infants with sickle cell disease matched to birth certificates, 21 deaths were identified. All-cause mortality following diagnosis was 3.8 per 1,000 person-years in the first 2 years of life and 1.0 per 1,000 person-years at ages 2-9 years. The mortality rate was significantly lower among children of foreign-born mothers and was significantly higher among preterm infants with low birth weight. The mortality rates were not significantly higher for infants after 28 days with sickle cell disease than for all New York births, but they were 2.7-8.4 times higher for children 1 through 9 years old with homozygous sickle cell disease than for those of all non-Hispanic black or Hispanic children born to New York residents. CONCLUSION: Estimated mortality risk in children with homozygous sickle cell disease remains elevated even after adjustment for maternal race/ethnicity. These results provide evidence regarding the current burden of child mortality among children with sickle cell disease despite newborn screening.Genet Med 17 6, 452-459.

State-based surveillance for selected hemoglobinopathies.

PURPOSE: The lack of an ongoing surveillance system for hemoglobinopathies in the United States impedes the ability of public health organizations to identify individuals with these conditions, monitor their health-care utilization and clinical outcomes, and understand the effect these conditions have on the health-care system. This article describes the results of a pilot program that supported the development of the infrastructure and data collection methods for a state-based surveillance system for selected hemoglobinopathies. METHODS: The system was designed to identify and gather information on all people living with a hemoglobinopathy diagnosis (sickle cell diseases or thalassemias) in the participating states during 2004-2008. Novel, three-level case definitions were developed, and multiple data sets were used to collect information. RESULTS: In total, 31,144 individuals who had a hemoglobinopathy diagnosis during the study period were identified in California; 39,633 in Florida; 20,815 in Georgia; 12,680 in Michigan; 34,853 in New York, and 8,696 in North Carolina. CONCLUSION: This approach provides a possible model for the development of state-based hemoglobinopathy surveillance systems.

Contribution of Sickle Cell Disease to the Pediatric Stroke Burden Among Hospital Discharges of African-Americans-United States, 1997-2012.

BACKGROUND: Approximately 10-20% of children with sickle cell disease (SCD) develop stroke, but few consistent national estimates of the stroke burden for children with SCD exist. The purpose of this study is to determine the proportion of diagnosed stroke among African-American pediatric discharges with and without SCD. PROCEDURE: Records for African-Americans aged 1-18 years in the Kids' Inpatient Database (KID) 1997-2012 with ≥1 ICD-9-CM diagnosis code for stroke were included. Data were weighted to provide national estimates. A total of 2,994 stroke cases among African-American children were identified. Diagnoses co-existing with ischemic or hemorrhagic stroke were frequency ranked separately. RESULTS: From 1997 through 2012, SCD was present in 24% of stroke discharges, with 89% being ischemic stroke. For hospital discharges of African-American children, SCD is the highest co-existing risk factor for ischemic stroke (29%). Stroke in children with SCD occurred predominantly in children aged 5-9 years, older than previously reported. The trend of stroke discharges significantly decreased for children with SCD from 1997 to 2012 for children aged 10-14 years. CONCLUSIONS: SCD is a leading risk factor to pediatric stroke in African-American children. Reducing the number of strokes among children with SCD would have a significant impact on the rate of strokes among African-American children. Preventative intervention may be modifying initial age of presentation of stroke in children with SCD.

Using formative research to develop a counselor training program for newborn screening in Ghana.

Sickle cell disease (SCD), sickle cell trait (SCT) and related conditions are highly prevalent in sub-Saharan Africa. Despite the public health implications, there is limited understanding of the unique needs regarding establishing and implementing extensive screening for newborns and appropriate family counseling. We sought to gain understanding of community attitudes and beliefs about SCD/SCT from counselors and potential counselors in Ghana; obtain their input about goals for counseling following newborn screening; and obtain guidance about developing effective counselor education. Five focus groups with 32 health care providers and health educators from 9 of 10 regions in Ghana were conducted by trained facilitators according to a structured protocol. Qualitative data were coded and categorized to reflect common themes. Saturation was achieved in themes related to genetics/inheritance; common complications of SCD; potential for stigmatization; marital strain; and emotional stress. Misconceptions about SCT as a form of SCD were prevalent as were cultural and spiritual beliefs about the causes of SCD/SCT. Potential positive aspects included affected children's academic achievement as compensation for physical limitations, and family cohesion. This data informed recommendations for content and structure of a counselor training program that was provided to the Ministry of Health in Ghana.

The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.

PURPOSE: To assess the utility of US health insurance data for surveillance of hereditary hemorrhagic telangiectasia, an autosomal-dominant blood vasculature disorder with an estimated prevalence of 1.5-2.0 per 10,000 persons worldwide. METHODS: We used 2005-2010 MarketScan Research Databases to identify individuals with employer-sponsored health insurance and International Classification of Disease, 9th Revision, Clinical Modification codes of 448.0 present in either one inpatient claim or two outpatient claims 30 days apart to define hereditary hemorrhagic telangiectasia. We examined frequencies of International Classification of Disease, 9th Revision, Clinical Modification codes for conditions that are complications of hereditary hemorrhagic telangiectasia among individuals with hereditary hemorrhagic telangiectasia and the general population to identify combinations of codes associated with hereditary hemorrhagic telangiectasia. RESULTS: Excluding observations from one state, the average prevalence of hereditary hemorrhagic telangiectasia was 0.3 per 10,000 persons. The reported prevalence rose with age from ~0.1 per 10,000 at ages <30 years to 1.0-1.1 per 10,000 at ages 70 years and above. The condition codes that were most specific to presumed hereditary hemorrhagic telangiectasia were lung arteriovenous malformations and upper gastrointestinal angiodysplasia. Combinations of those codes and codes for brain arteriovenous malformation and epistaxis were highly predictive of reporting of hereditary hemorrhagic telangiectasia, with 20-57% of enrollees with those codes also meeting the study definition for hereditary hemorrhagic telangiectasia. CONCLUSION: Hereditary hemorrhagic telangiectasia is underrecognized in US administrative data. Administrative health data can be used to identify individuals with combinations of signs that are suggestive of hereditary hemorrhagic telangiectasia. Studies are needed to test the hypothesis that referral for evaluation of individuals with administrative records suggestive of undiagnosed hereditary hemorrhagic telangiectasia could lead to diagnosis and access to life-saving treatments for both them and affected family members.

Incidence of sickle cell trait--United States, 2010.

Persons with sickle cell trait (SCT) are heterozygous carriers of an abnormal ß-globin gene that results in the production of an abnormal hemoglobin, Hb S, which can distort red blood cells (http://www.cdc.gov/ncbddd/sicklecell/facts.html). All state newborn screening (NBS) programs have provided universal sickle cell disease (SCD) screening for newborns since 2006. Screening for SCD detects both SCD and SCT. To obtain up-to-date measures of the occurrence of SCT among newborns by race/ethnicity and state of birth, data collected by state NBS programs in 2010 were examined. In 2010, the incidence of SCT in participating states was 15.5 per 1,000 newborns overall; 73.1 among black newborns and 6.9 among Hispanic newborns. Incidence by state ranged from 0.8 per 1,000 screened newborns in Montana to 34.1 per 1,000 in Mississippi. Although the occurrence of SCT varies greatly from state-to-state and among different races and ethnicities, every state and racial/ethnic population includes persons living with the condition. The period immediately following NBS is ideal for primary care providers and genetic counselors to begin educating the families of identified persons with SCT about potential health complications and reproductive considerations.

CDC Grand Rounds: preventing hospital-associated venous thromboembolism.

Deep venous thrombosis (DVT) is a blood clot in a large vein, usually in the leg or pelvis. Sometimes a DVT detaches from the site of formation and becomes mobile in the blood stream. If the circulating clot moves through the heart to the lungs it can block an artery supplying blood to the lungs. This condition is called pulmonary embolism. The disease process that includes DVT and/or pulmonary embolism is called venous thromboembolism (VTE). Each year in the United States, an estimated 350,000-900,000 persons develop incident VTE, of whom approximately 100,000 die, mostly as sudden deaths, the cause of which often goes unrecognized. In addition, 30%-50% of persons with lower-extremity DVT develop postthrombotic syndrome (a long-term complication that causes swelling, pain, discoloration, and, in severe cases, ulcers in the affected limb). Finally, 10%-30% of persons who survive the first occurrence of VTE develop another VTE within 5 years.

Elevated transferrin saturation, health-related quality of life and telomere length.

We sought to examine the relationship between elevated transferrin saturation (TS) and measures of health status (telomere length and patient-reported health-related quality of life) to assess whether elevated TS is associated with negative patient outcomes beyond increased risk for morbidity and mortality, using a cross-sectional analysis of the Hemochromatosis and Iron Overload Screening Study supplemented with assays for leukocyte telomere length in adults ≥25 years old (n = 669). Among individuals with elevated TS (≥45 % for women and ≥50 % for men), who also had a usual source of care, only 5.2 % reported ever being told by a doctor that they had an elevated iron condition. In a fully adjusted general linear regression model controlling for demographic characteristics as well as health conditions associated with iron overload, elevated TS versus non-elevated TS was associated with worse general health status (60.4 vs. 63.8, P < 0.05), mental health status (76.5 vs. 82.2, P < 0.0001) and shorter telomere length (241.4 vs. 261.3, P < 0.05). Increased surveillance of elevated TS may be in order as elevated TS is associated with decreased health status and very few patients with elevated TS are aware of their condition.

Obstetrician-gynecologists' knowledge of sickle cell disease screening and management.

BACKGROUND: Although obstetrician/gynecologists (OB/GYNs) play an important role in sickle cell disease (SCD) screening and patient care, there is little information on knowledge of SCD or sickle cell trait (SCT) or related practices in this provider group. Our objective was to assess SCD screening and prenatal management practices among OB/GYNs. METHODS: Twelve hundred Fellows and Junior Fellows of the American College of Obstetricians and Gynecologists (the College)a were invited to complete a mailed survey, of which half (n = 600) belonged to the Collaborative Ambulatory Research Network.b Participants answered questions regarding appropriate target patient groups for prenatal SCD screening, folic acid requirements, practice behaviors and adequacy of their medical school and residency training. RESULTS: A total of 338 CARN members (56.3%) and 165 non-CARN members (27.5%) returned a survey. Of the 503 responders, 382 provided obstetric services and were included in the analyses. Forty percent of these respondents (n = 153) reported seeing at least 1 patient with SCD in the last year. Of these, 97.4% reported regularly screening people of African descent for SCD or SCT, whereas 52.9% reported regularly screening people of Mediterranean descent and 30.1% reported regularly screening people of Asian descent. Only 56.2% knew the correct recommended daily dose of folic acid for pregnant women with SCD. The proportion of respondents that rated training on SCD screening, assessment and treatment as barely adequate or inadequate ranged from 19.7% to 39.3%. CONCLUSIONS: The practice of many OB/GYNs who care for patients with SCD are not consistent with the College Practice Guidelines on the screening of certain target groups and on folic acid supplementation. There may be an opportunity to improve this knowledge gap through enhanced medical education.

Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity.

PURPOSE: Sickle cell disease is estimated to occur in 1:300-400 African-American births, with higher rates among immigrants from Africa and the Caribbean, and is less common among Hispanic births. This study determined sickle cell disease incidence among New York State newborns stratified by maternal race/ethnicity and nativity. METHODS: Newborns with confirmed sickle cell disease born to New York State residents were identified by the New York State newborn screening program for the years 2000-2008 and matched to birth records to obtain birth and maternal information. Annual incidence rates were computed and bivariate analyses were conducted to examine associations with maternal race/ethnicity and nativity. RESULTS: From 2000 to 2008, 1,911 New York State newborns were diagnosed with sickle cell disease and matched to the birth certificate files. One in every 1,146 live births was diagnosed with sickle cell disease. Newborns of non-Hispanic black mothers accounted for 86% of sickle cell disease cases whereas newborns of Hispanic mothers accounted for 12% of cases. The estimated incidence was 1:230 live births for non-Hispanic black mothers, 1:2,320 births for Hispanic mothers, and 1:41,647 births for non-Hispanic white mothers. Newborns of foreign-born non-Hispanic black mothers had a twofold higher incidence of sickle cell disease than those born to US-born non-Hispanic black mothers (P < 0.001). CONCLUSION: This study provides the first US estimates of sickle cell disease incidence by maternal nativity. Women born outside the United States account for the majority of children with sickle cell disease born in New York State. Such findings identify at-risk populations and inform outreach activities that promote ongoing, high-quality medical management to affected children.

Telomere length and elevated iron: the influence of phenotype and HFE genotype.

Elevated body iron stores are associated with morbidity and mortality due to oxidative stress. Hereditary hemochromatosis, a common condition caused by HFE gene mutations, can lead to excess iron storage and disease but clinical penetrance of HFE gene mutations is low and many people with elevated iron stores lack HFE mutations. We analyzed data from the Hemochromatosis and Iron Overload Screening Study to assess the relationship among HFE genotype (individuals with either homozygous or compound heterozygous status for C282Y and/or H63D HFE mutations were defined as genotype positive, or G+), elevated iron phenotype (individuals exceeding gender-specific transferrin saturation and serum ferritin threshold levels were considered phenotype positive, or P+), and leukocyte telomere length, a marker of biological aging and cumulative oxidative stress. In unadjusted analyses in comparison to individuals who were G-P-, G+P- were not significantly different (OR 0.74; 95% CI 0.26-2.04), while the G+P+ (OR 2.03; 95% CI 1.15-3.56), and G-P+ (OR 2.24; 95% CI 1.5-3.29) had increased risk of short telomeres (<=25th percentile) rather than long telomeres (>=75th percentile). In analyses adjusting for age, gender, and race/ethnicity, the effect of individuals with elevated iron phenotypes having short telomeres persisted with G+P+ individuals (OR 1.94; 95% CI 1.02-3.72), and G-P+ individuals (OR 2.17; 95% CI 1.39-3.39) being significantly different from the G-P- group. In conclusion, elevated iron phenotype, but not HFE genotype, was associated with shortened telomeres. Further studies will be needed to determine whether telomere length provides a marker for morbidities specifically associated with iron overload.

Clustering patterns of comorbidities associated with in-hospital death in hospitalizations of US adults with venous thromboembolism.

BACKGROUND: Venous thromboembolism (VTE) is a significant source of mortality, morbidity, disability, and impaired health-related quality of life in the world. OBJECTIVE: We aimed to evaluate the clustering patterns and associations of 29 comorbidities with in-hospital death among adult hospitalizations with a diagnosis of VTE in the United States by analyzing data from the 2009 Nationwide Inpatient Sample. METHODS: This cross-sectional study included 153,124 adult hospitalizations with a diagnosis of VTE. Adjusted rate ratios and 95% confidence intervals (CI) for in-hospital death were generated by using multivariable log-linear regression models to measure independent associations between comorbidities and in-hospital death. RESULTS: We estimated that 44,200 in-hospital deaths occurred in 2009 among 773,273 US adult hospitalizations with a diagnosis of VTE. Subgroups of hospitalizations with comorbidities of "congestive heart failure," "chronic pulmonary disease," "coagulopathy," "liver disease," "lymphoma," "fluid and electrolyte disorders," "metastatic cancer," "peripheral vascular disorders," "pulmonary circulation disorders," "renal failure," "solid tumor without metastasis," or "weight loss" were positively and independently associated with 1.07 (95% CI: 1.02-1.12 ) to 2.06 (95% CI: 1.97-2.16) times increased likelihoods of in-hospital death, when compared to those without the corresponding comorbidities. The clustering patterns of these comorbidities by 4 disease categories (i.e., "cancer," "cardiovascular/respiratory/blood," "gastrointestinal/urologic," and "nutritional/bodyweight") were associated with 2.74 to 10.28 times increased likelihoods of in-hospital death, as compared to hospitalizations without any of these comorbidities. The overall increase in the cumulative number of comorbidities corresponded to significantly elevated risks (P-trend<0.01) for in-hospital death among hospitalizations with a diagnosis of VTE. CONCLUSION: The presence of multiple comorbidities is ubiquitous among hospitalizations of adults with VTE and among in-hospital deaths with VTE in the United States. The findings of our study further suggest that, among hospitalizations of adults with VTE, the presence of certain comorbidities or clustering of these comorbidities significantly elevates the risk of in-hospital death.

Evaluation of bleeding disorders in women with menorrhagia: a survey of obstetrician-gynecologists.

OBJECTIVE: To better understand the current evaluation of unexplained menorrhagia by obstetrician-gynecologists and the extent to which a bleeding disorder diagnosis is being considered in this population. STUDY DESIGN: A total of 1200 Fellows and Junior Fellows of the American College of Obstetricians and Gynecologists were invited to participate in a survey on blood disorders. Respondents completed a questionnaire regarding their patient population and their evaluation of patients with unexplained menorrhagia. RESULTS: The overall response rate was 42.4%. Eighty-two percent of respondents reported having seen patients with menorrhagia caused by a bleeding disorder. Seventy-seven percent of physicians reported they would be likely or very likely to consider a bleeding disorder as causing menorrhagia in adolescent patients; however, only 38.8% would consider bleeding disorders in reproductive age women. CONCLUSION: The current data demonstrate that obstetrician-gynecologists seem to have a relatively high awareness of bleeding disorders as a potential underlying cause of menorrhagia.

Calcium channel blocker use and serum ferritin in adults with hypertension.

Iron overload cardiomyopathy is becoming more prevalent, and early recognition and intervention may alter outcomes. Calcium channels are key transporters of iron under iron-overloaded conditions, and potentially represent a new therapeutic target for iron overload. The purpose of this study was to examine the relationship between Calcium channel blocker (CCB) use and serum ferritin among adults with diagnosed hypertension. We analyzed the nationally representative NHANES (National Health and Nutrition Examination Survey) 1999-2002 for adults ≥40 years with diagnosed hypertension. The association between CCBs and serum ferritin was assessed using a t-test and adjusted multiple regressions.The study population included 2143 individuals (representing 37.4 million individuals, 42.0 % males). 12.6 % of the population reported taking CCBs in the last month. Individuals taking CCBs had lower mean serum ferritin (129.3 ng/mL versus 154.5 ng/mL, p = 0.02). After adjusting for age, sex, menopause and hysterectomy status for women, race/ethnicity, and C-reactive protein, mean serum ferritin for individuals taking CCBs was 26.3 ng/mL lower than for those not taking CCBs (p = 0.01). In an adjusted regression, individuals who took CCBs and had a daily vitamin C intake of ≥500 mg had a mean serum ferritin that was 60.1 ng/mL lower than people not taking CCBs and with daily vitamin C < 500 mg (p < 0.001). In conclusion, this study found an association between use of CCBs and lower serum ferritin levels in individuals with hypertension. Further studies are needed to assess the possible use of CCBs as non-traditional chelating agents for treatment of iron overload cardiomyopathy.

Clinician Beliefs and Practices Related to Cannabis.

Introduction: Medical cannabis (marijuana) use is legal in 33 U.S. states and the District of Columbia. Clinicians can play an important role in helping patients access and weigh potential benefits and risks of medicinal cannabis. Accordingly, this study aimed to assess clinician beliefs and practices related to cannabis. Methods: Data are from 1506 family practice doctors, internists, nurse practitioners, and oncologists who responded to the 2018 DocStyles, a web-based panel survey of clinicians. Questions assessed medicinal uses for and practices related to cannabis and assessed clinicians' knowledge of cannabis legality in their state. Logistic regression was used to assess multivariable correlates of asking about, assessing, and recommending cannabis. Results: Over two-thirds (68.9%) of clinicians surveyed believe that cannabis has medicinal uses and just over a quarter (26.6%) had ever recommended cannabis to a patient. Clinicians who believed cannabis had medicinal uses had 5.9 times the adjusted odds (95% confidence interval 3.9-8.9) of recommending cannabis to patients. Beliefs about conditions for medical cannabis use did not necessarily align with the current scientific evidence. Nearly two-thirds (60.0%) of clinicians surveyed incorrectly reported the legal status of cannabis in their state. Discussion: Findings suggest that while clinicians believe that cannabis has medicinal uses, they may not have a full understanding of the scientific evidence and may not accurately understand their state-based policies for cannabis legalization and use. Given that clinicians are responsible for recommending medicinal cannabis in most states that have legalized it, ongoing education about the health effects of cannabis is warranted.

IRon Overload screeNing tool (IRON): development of a tool to guide screening in primary care.

Iron overload is associated with significant morbidity and mortality yet is easily treated. The objective of this study was to create a tool that could be easily adapted to clinical practice that indicates the likelihood of a patient having undetected iron overload. We used the National Health and Nutrition Examination Survey (NHANES) 1999-2002 for US adults aged 20 years and older to build a model (unweighted n=8,779). We chose potential variables for inclusion that could be gathered by self-report or measured without laboratory data and were suggested by past literature on hemochromatosis and iron overload. We computed logistic regressions to create the scores by initially evaluating the variables' relationship with elevated ferritin and elevated transferrin saturation and then using odds ratios to correspond to scores. The resulting score on the IRon Overload ScreeNing Tool (IRON) was then validated with data on 13,844 adults in the NHANES III, 1988-94. Predictors in the final tool were age, gender, previous diagnoses of liver condition, osteoporosis or thyroid disease. The IRON score yielded an area under the curve (AUC) in the NHANES 1999-02 of 0.720 and an AUC of 0.685 in the NHANES III validation sample. The IRON score is a tool to assist in identification of patients with iron overload that has several qualities that make it attractive for use in clinical practice with an undifferentiated patient population including brevity, easily collected information and predictive ability comparable to other tools that help in directing screening.

Ethical implications and practical considerations of ethnically targeted screening for genetic disorders: the case of hemoglobinopathy screening.

The prevalence of hemoglobinopathies differs among populations due to genetic differences and due to the protective effects of the heterozygote (carrier) state against malaria. Because of the difference in genetic distribution, public health programs have weighed the ethical versus practical implications of ethnically targeted versus universal newborn, and where applicable, prenatal screening. We examine newborn and prenatal screening for hemoglobinopathies in relation to the use of 'race' and ethnicity to assess risk for genetic conditions. First, categories of race/ethnicity are social constructs, therefore, observed or self-identified broad racial/ethnic categories are correlated but not necessarily reliable indicators of geographic ancestry or genetic risk. Second, targeting based on ethnicity poses serious issues of logistics and equity for public health programs and clinical services. In the past, newborn screening for hemoglobinopathies in the United States and United Kingdom was often selective, targeted to women of certain ethnic groups or areas with large concentrations of ethnic minority groups. Presently, newborn screening for hemoglobinopathies is universal in both countries and programs emphasize that individuals of all ethnic backgrounds are at risk for carrying a hemoglobin genetic variant. Reported race/ethnicity is still used as a criterion for offering prenatal carrier testing in the United States, where it is not a public health responsibility. In the United Kingdom, prenatal screening under the National Health Service is universal in high-prevalence areas and in low-prevalence areas is targeted based on reported ancestry. The continued use of targeted prenatal screening in both countries reflects the different purposes and modes of laboratory testing in newborn and prenatal screening. The ethical imperative to identify as many affected infants with life-threatening conditions as possible in newborn screening programs is not applicable to prenatal carrier testing. Because newborn screening dried blood spot specimens are tested for multiple disorders, targeted screening poses serious logistical challenges which is not the case in prenatal screening.