Quality of life in children and adolescents with blood coagulation disorders and hemoglobinopathies.

The aim of this study was to evaluate the impact of oral conditions and health-related quality of life (HRQoL) on oral health-related quality of life (OHRQoL) in children and adolescents with blood coagulation disorders and hemoglobinopathies (BCDH). The study was cross-sectional and included 61 individuals aged 2 to 18 years with BCDH. Exams for dental caries (dmft/DMFT index), oral hygiene (simplified oral hygiene index - OHI-S), and gingival health (modified gingival index - MGI) were performed. The pediatric quality of life inventory™ (PedsQL™) generic core scale and oral health scale were used to measure HRQoL and OHRQoL. Spearman's correlation coefficient (ρ) and the Mann-Whitney test (α = 0.05) were conducted to assess the relationship between covariates and the PedsQL™ oral health scale. The mean PedsQL™ oral health scale score was 76.66 (SD = 21.36). Worse OHRQoL was correlated with poor oral hygiene (ρ = -0.383; p: 0.004), poor gingival health (ρ = -0.327; p = 0.014), and better HRQoL (ρ = 0.488; p < 0.001). Greater untreated dental caries experience was associated with worse OHRQoL (p = 0.009). Worse oral health status in children and adolescents with BCDH negatively impacts OHRQoL, and OHRQoL and quality of life analyzed from a generic perspective are positively correlated constructs in this population.

Decision making for hematopoietic stem cell transplantation in pediatric, adolescent, and young adult patients with a hemoglobinopathy-Shared or not?

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) offers an established curative option for sickle cell disease (SCD) and thalassemia patients but is associated with significant risks. Decision making is a complex process and shared decision making (SDM) could be a fitting approach in case of such preference-sensitive decisions. This study investigated what level of SDM is used in conversations with hemoglobinopathy patients and/or their caregivers considering HSCT as a curative treatment option. METHODS: Longitudinal, descriptive study using the Observing-Patient-Involvement-in-Decision-Making scale (OPTION5 ) scale to determine the level of SDM in conversations with 26 hemoglobinopathy patients and/or their caregivers. RESULTS: The total mean OPTION5 score was 43%, which is a moderate SDM approach. There was no difference between conversations with thalassemia patients and SCD patients. Conversations needing an interpreter scored worse than nontranslated conversations. The best scoring OPTION5 item was item 3: "informing about the various treatment options" (mean score 2.3 on scale 0-4). For OPTION5 item 4: "eliciting patients' preferences" a more skilled effort was measured for SCD patients compared to thalassemia patients. CONCLUSIONS: The mean OPTION5 score of "moderate" was achieved mainly by giving information on available options, which is primarily a one-way communication. The SDM process can be improved by actively inviting patients to deliberate about options and including their elicited preferences in decision making.

Inherited blood disorders, genetic risk and global public health: framing 'birth defects' as preventable in India.

This paper engages critically with the global assemblage framing sickle cell and thalassaemia disorders as a 'global health crisis'; and the promise of genomics, largely DNA-based carrier/pre-conceptual screening, prenatal diagnosis with a view to terminations, deployed in framing a solution to these historically racialised spectrum of diseases as essentially preventable. Sickle cell and thalassaemia are recessively inherited, potentially life-threatening haemoglobin disorders with significant variation of severity, often needing life-long treatment. I argue that the re-classification of inherited blood disorders (IBDs) under 'prevention and management of birth defects' by the WHO in 2010 can be read as an ethical moment within the 'globalising turn' of IBDs and the use of genomics in addressing structural inequalities underpinning health in low- and middle-income countries. Using an Indian case study, the paper aims at first examining the language of risk through which genes and IBDs are mapped onto pre-existing populations (e.g. caste and tribe) as discrete, categories. Second, it discusses the likely social and ethical ramifications of classifying these recessive gene disorders as essentially preventable, despite cheaply available diagnostic tests and treatment options available in most countries in the South.

After the introduction into the national newborn screening program: who is receiving genetic counseling for hemoglobinopathies in the Netherlands?

OBJECTIVE: Universal newborn screening for hemoglobinopathies started in The Netherlands in 2007. Herewith severe conditions, such as sickle cell disease, ß-thalassemia major and hemoglobin H disease are putatively identified. Additionally, at least 1,800 carriers of hemoglobin variants associated with severe conditions in homozygote or compound heterozygote forms are identified yearly. Thus far, approximately 60 patients and 800 healthy sickle cell (HbS) carriers are reported each year among 180,000 newborns. Results are sent to the general practitioner with the recommendation to inform and diagnose both parents of the healthy carriers to exclude genetic risk, while patients and their parents are referred directly to a pediatrician. This study was performed to determine how often parents of identified carriers and affected newborns are seen in genetic centers for counseling. METHODS: In this retrospective study, we collected anonymized data from 7 of the 8 Dutch clinical genetic centers from January 1, 2007, until December 31, 2010. RESULTS: After an initial general increase in total counseling intakes, a decline was noticed in the third year, while the requests for prenatal diagnoses remained relatively stable. In 2007 and 2013, genetic counselors were asked for self-reported knowledge. They found hemoglobinopathy counseling complex, but by 2013, they indicated they had acquired sufficient knowledge on most hemoglobinopathy aspects. CONCLUSION: We could not observe a significant increase in genetic counseling for hemoglobinopathy after its introduction into newborn screening. Although 120 HbS carriers and 60 patients are expected to be born from couples at risk annually, only 33 at risk couples out of 540 families of diagnosed newborns received optimal care and information at a genetics center in 4 years.

The attitudes and intention to participate in hemoglobinopathy carrier screening in The Netherlands among individuals from Turkish, Moroccan, and Surinamese descent.

OBJECTIVE: To explore factors that influence intention to participate in hemoglobinopathy (HbP) carrier screening under Dutch subjects at risk, since HbP became more common in The Netherlands. METHOD: Structured interviews with 301 subjects from Turkish, Moroccan, or Surinamese ethnicity. RESULTS: Half of the participants were familiar with HbP, 27% with carrier screening. Only 55% correctly answered basic knowledge items. After balanced information, 83% percent of subjects express intention to participate in HbP carrier screening. Intention to participate was correlated with (1) anticipated negative feelings, (2) valuing a physician's advice, and (3) beliefs on significance of carrier screening. Risk perception was a significant determinant, while respondents were unaware of HbP as endemic in their country of birth. Respondents preferred screening before pregnancy and at cost < 50€. CONCLUSION: These findings show the importance of informing those at risk by tailored health education. We propose easy access at no costs for those willing to participate in HbP carrier screening.

Health-related quality of life in patients with hemoglobinopathies.

The use of patient-reported outcomes to measure the health and well-being of patients from their perspective has become an acceptable method to determine the impact of a disease and its treatment on patients. In patients with hemoglobinopathies, prior work has demonstrated that patients experience significant impairment in health-related quality of life (HRQL, a type of patient-reported outcome). This work has provided a better understanding of the burden that these patients experience and the factors that are associated with worse HRQL. The recent development of disease-specific HRQL instruments in sickle cell disease heralds new opportunities to explore the impact of the disease and its treatment on patients. The standards necessary to incorporate the measurement of HRQL into clinical trials are now well outlined by regulatory agencies. Measuring HRQL within a clinical practice setting and outside of the healthcare setting while the patient is at home are now possible and present new opportunities to understand the health and well-being of patients with hemoglobinopathies.

A pilot study to determine whether health care professionals perceive stigma in heterozygote carrier identification and disclosure decisions.

We conducted an empirical pilot study to assess the attitudes of health care professionals (HCPs) to the personal identification of heterozygote carrier status for two autosomal recessive conditions (cystic fibrosis and a hemoglobinopathy) and for an X-linked disorder (Duchenne muscular dystrophy) using the Health Orientation Scale (HOS) and a modified HIV Stigma Scale. Attitudes towards carrier identification of children were also assessed. Three hundred and ten of 742 (42%) eligible HCPs fully or partly completed the survey. As measured with the HOS and the modified HIV scale, respondents had a more negative reaction to the hypothetical discovery of being a carrier for an autosomal recessive genetic condition that was less likely given their self-identified ancestry. Female respondents had a more negative reaction on both scales to being a carrier for an X-linked disorder than men thought their partners would feel. However, the differences found on the HOS and modified HIV scale are small and their clinical relevance unknown. Fifty-seven percent of respondents agreed that parents should tell their children to keep their carrier status private with many (44%) agreeing that children who learn that they are carriers may suffer from a decrease in self-esteem. The vast majority of respondents would inform immediate family members and HCPs of their carrier status, but would be unlikely to share this information with neighbors or employers. Further study is needed to develop a heterozygote genetic carrier stigma scale.

Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety.

PURPOSE: The primary purpose of newborn screening for hemoglobinopathies is the presymptomatic diagnosis and early treatment of sickle cell disease. Hemoglobinopathy traits detected on the newborn screening provide an opportunity for genetic counseling of families regarding the trait and information that may impact reproductive decisions of the parents. We describe the results of a study to determine the impact of newborn screening and genetic counseling on the lives of families in which an abnormal hemoglobin trait had been identified. METHODS: From June 2003 to December 2009, families of children with trait attending a clinic visit and receiving professional genetic counseling were asked to participate in a semistructured follow-up survey regarding their experience and the impact of genetic counseling on their families. RESULTS: Of the 300 patients seen in clinic during the specified time period, 209 consented to be recontacted and 114 have completed the survey. Eighty-five percent of responders reported knowing that the newborn screen had been performed, but only 55% understood the purpose of newborn screening. When asked about the effect of finding out that trait was present in their baby, 19% reported feeling guilty or upset, whereas 4% believed that their partner blamed them for the child's results. That genetic counseling was found to be beneficial was indicated by the fact that 99% reported that their questions were answered, 82% reported feeling less anxious, and 78% discussed the trait with their partner after the appointment. CONCLUSIONS: Genetic counseling after newborn screening relieves anxiety, provides knowledge, facilitates dialog within families and between partners about hemoglobinopathy trait, and was seen as a positive experience for the majority of responders.

Hemoglobinopathy awareness among high school students in Antakya (Antioch), Turkey.

Hemoglobinopathy is a major public health problem in Eastern Mediterranean, Turkey, where homozygote babies continue to be born. We wanted to present the knowledge of high school students and their attitudes on hemoglobinopathy in Antakya (center of Hatay).The study was performed on 11th grade students in 17 high schools and 486 students in the center at Antakya. We used a questionnaire and frequency tables and chi-square tests were used. Of the students who took part, 37.7% were previously informed about hemoglobinopathies, while 62.3% were not. There was no significant relationship between the school types and their being previously informed (p > 0.05). There was an index case for 28% of the students, and 25.4% of the students who did not have any diseased person around them were previously informed (p < 0.01). While the range of percentage of correct answers was between 17.5% (about treatment of the diseases) and 73.3% (about the carrier status), these percentages seemed to be higher for those who stated that they were previously informed (22.2% about treatment and 85.8% about the carrier status). As much as 83.7% of the students stated that they wanted to be educated about hemoglobinopathies in the school and 89.1% wanted to know if they were carriers. Our study suggests that there is an urgent need to revise the Hemoglobinopathy Control Programme especially with regard to the enlightenment of the students and public.

Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands.

OBJECTIVE: To study psychological outcomes, knowledge, recall and understanding of test-results, satisfaction, and reproductive intentions among 97 Western and 46 non-Western participants in a unique preconceptional carrier screening study for both cystic fibrosis and hemoglobinopathies in a multiethnic population the Netherlands, in which a couple's eligibility for cystic fibrosis and/or hemoglobinopathies testing was based on both partners' ancestry. METHODS: Questionnaires before and after pretest consultation, and 1 week and 3 months after receiving test-results. Three cystic fibrosis and seven hemoglobinopathy carriers were identified, but no carrier couples. RESULTS: Overall, anxiety levels were low, knowledge improved after pretest consultation but decreased after 3 months. Ninety-four percent remembered their test-results. Western compared with non-Western participants had higher knowledge-scores and better understanding of test-results. None of the carriers felt less healthy, six felt relieved, and one felt disappointed. Four carriers were unaware of the residual risk of having an affected child. Participants intended to draw reproductive decisions from test-results, were satisfied, did not regret participation, and did not report major feelings of discrimination or stigmatization. CONCLUSIONS: Similar to previous studies, no major adverse psychological effects were demonstrated among the Western and non-Western participants in this study, and they would draw reproductive decisions on test-results. No arguments for rejecting a combined offer of preconceptional ancestry-based cystic fibrosis and hemoglobinopathies carrier screening were found. An extensive implementation study should be carried out, in which understanding of test-results needs further attention, to investigate whether or not this type of screening should be implemented on a large scale in the Netherlands.

Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era.

BACKGROUND: England is the only country in the world that currently has universal population screening for haemoglobin disorders through linked antenatal and newborn screening. Little is known about the acceptability of such screening. AIM: To explore parents' experiences of, and attitudes towards, new universal genetic screening for haemoglobin disorders. DESIGN OF STUDY: Narrative interview study. SETTING: Primary and community care settings across England. METHOD: Narrative interviews were undertaken with a maximum variation sample of 39 people who had experienced gene-carrier identification through antenatal and newborn screening for sickle cell, thalassaemia, and other haemoglobin variants within the previous 2 years. RESULTS: Most parents were unaware screening had occurred or had given it little consideration and so were surprised or shocked by results. However, they were glad to learn of their carrier status, reproductive genetic risk, or their newborn's carrier status. Participants emphasised that antenatal screening should happen as early as possible. Many would rather have known their carrier status before pregnancy or before entering a relationship. Although most were satisfied with the information they received, significant misunderstandings remained. There were culturally diverse attitudes towards prenatal diagnosis and termination. These procedures were acceptable to some parents with strong religious beliefs, including Christians and Muslims. CONCLUSION: Parents support screening for haemoglobin disorders but need to be better informed and better prepared for results and what they mean. Sensitivity to patient diversity in attitudes and choices is also required. Universal screening for genetic reproductive risk will increasingly involve generalists, particularly in primary care, presenting opportunities for screening before or earlier in pregnancy, which is likely to be welcomed by patients.

Outcome of a school screening programme for carriers of haemoglobin disease.

OBJECTIVES: To assess the impact of a screening programme for haemoglobinopathies which was organised from 1978 to 1985 in high secondary schools of the Marseille region. METHODS: Several variables that reflected the influence of this preventive programme on the uptake of prenatal diagnosis were investigated. To evaluate the partner's uptake for the testing, a letter was sent, together with an anonymous questionnaire, to all the haemoglobin carriers detected in this programme. To evaluate the number of prenatal diagnoses, the charts of all couples from the Marseille area who underwent genetic counselling for haemoglobinopathies were compiled. The number of affected children born between 1980 to 2000 was recorded, and the cases in which one of the parents had previously been screened at school were noted. RESULTS: Half of the carriers replied to the questionnaire: 86% knew that they have to test their partner. Six carrier couples were identified, four asked for genetic counselling and requested eight prenatal diagnoses, two couples did not request genetic counselling and have had two affected children. CONCLUSIONS: Despite the time lapse between screening, informing, and pregnancy (mean 15 years), the information was well conserved and resulted in testing of the partner. The screening programme was effective in motivating requests for prenatal diagnosis.

Prenatal hemoglobinopathy screening. IV. Follow-up of women at risk for a child with a clinically significant hemoglobinopathy.

To determine the benefits and burdens of prenatal hemoglobinopathy carrier identification and genetic counseling and its impact on subsequent reproductive behavior, we recontacted women whom we had previously identified as at risk for having a child with a clinically significant hemoglobinopathy, regardless of whether they had accepted the offer of prenatal diagnosis. Of the 46 such women, 31 were available for interview. These 31 women had received offers of prenatal diagnosis in 47 pregnancies. Seventeen had been accepted, and 30 had been declined. The proportion of patients accepting the offer of prenatal diagnosis was higher for the index pregnancy (50%) than for subsequent pregnancies (22%). The mean interval between the initial counseling of the patient and the follow-up interview was 43 mo (standard error +/- 2.7 mo). Ninety-four percent of those interviewed recalled having received information from the screening program; 74% recalled the name of their condition; 90% knew that trait did not affect their health; 84% recalled the name of the condition for which their fetus had been at risk; and 77% could state at least one symptom of the disease. Of the 29 women asked whether they intended to use prenatal diagnosis in future pregnancies, 13 said yes and 16 said no. Of the 26 patients asked about satisfaction with their previous decision about prenatal diagnosis, all were satisfied with their decision. Eighteen said they would make the same decision in their next pregnancy, but seven patients said they would not, and one was undecided.(ABSTRACT TRUNCATED AT 250 WORDS)