[Newborn screening : the point of view of the paediatrician]. / Dépistage néonatal : le point de vue du pédiatre.

Newborn screening is a public health effort that has changed the prognosis of some congenital diseases. Newborn screening programmes differ between countries in which it is organized. Demographic, epidemiological or economic factors play a role in the choice of the screening panel. In the French Community of Belgium, the programme focuses on 13 metabolic and endocrine diseases, hearing loss and hemoglobinopathies (Brussels and Liege). Newborn screening is a complex process that requires the involvement of all stakeholders : parent information, blood sampling or testing, lab analysis, follow-up of the results, initiate adequate care in case of positive test and genetic counselling. Newborn screening programmes will evolve in the next years. New therapeutic and diagnostic methods will make other genetic diseases candidates for screening. Whole genome sequencing may be the next expansion; it will create new opportunities but will pose new ethical dilemmas. We must all prepare now for future challenges.

[Anemia in the elderly]. / L'anémie de la personne âgée.

Anaemia is a problem that affects almost 10% over 65 years and 20% over 85 years. There is no physiological anaemia in the elderly. Any anaemia expresses the existence of a pathological process, regardless of its severity. Anaemia in the elderly is always associated with a poor prognosis that is in terms of mortality, morbidity and risk of fragility. The diagnostic approach to anemia in the elderly is the same as in younger individual. There are many causes of anaemia; anaemia balance is a complex diagnostic process. Most anaemias are due to a deficiency, chronic inflammation or comorbidity. However, in the elderly, the etiology of anaemia is often multifactorial. In a number of cases remain unexplained anaemia. In a number of cases, anemia remain unexplained. Treatment of anaemia is the treatment of the cause, but specific therapeutic aspects to the elderly should be considered, as among other martial substitution or use of erythropoietin (EPO).

[Sickle cell anemia and transfusion safety in Bamako, Mali. Seroprevalence of HIV, HBV and HCV infections and alloimmunization belonged to Rh and Kell systems in sickle cell anemia patients]. / Sécurité transfusionnelle et drépanocytose à Bamako, Mali. Séroprévalence des infections à VIH, VHB, VHC et allo-immunisation anti-Rh et Kell chez les drépanocytaires.

Red cell transfusion is one of the main treatments in sickle cell disease. However there are potential risks of blood transfusions. In order to propose strategies to improve blood safety in sickle cell disease in Mali, we conducted a prospective study of 133 patients with sickle cell anemia recruited at the sickle cell disease research and control center of Bamako, November 2010 to October 2011. The study aimed to determine the prevalence of human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV) infections by serum screening and the frequency of red cell alloimmunization before and after blood transfusion. The diagnosis of sickle cell syndrome was made by HPLC, the detection of markers of viral infection was performed by ELISA, and the diagnosis of alloimmunization was conducted by the Indirect Coombs test. Prevalence of viral infections observed at the time of enrolment of patients in the study was 1%, 3% and 1% respectively for HIV, HBV and HCV. Three cases of seroconversion after blood transfusion were detected, including one for HIV, one for HBV and one another for HCV in sickle cell anemia patients. All these patients had received blood from occasional donors. The red cell alloimmunization was observed in 4.4% of patients. All antibodies belonged to Rh system only. Blood transfusion safety in sickle cell anemia patients in Mali should be improved by the introduction of at least the technique for detecting the viral genome in the panel of screening tests and a policy of transfusions of blood units only from regular blood donors.

Time course of iron metabolism in critically ill patients.

BACKGROUND: Altered iron metabolism plays a central role in the development of anaemia in critically ill patients but the time course of iron status in septic and non-septic critically ill patients has not been well defined. METHODS: Prospective study in a 34-bed medico-surgical ICU. The complete blood count, iron, ferritin, transferrin, and transferrin receptor concentrations, transferrin saturation and C-reactive protein (CRP) concentrations were measured on days 1, 3 and 5 of the ICU stay in 95 consecutive ICU patients (33 with sepsis and 62 without). RESULTS: Despite an identical complete blood count on day 1, septic patients had significantly lower iron concentrations (21 [13-34] vs 50[28-75] microg/dL, p<0.001), transferrin concentrations (169[121-215] vs 214[173-247] mg/dL; p=0.003), and transferrin saturation (11[7-15] vs 19[11-25]%; p= 0.004), and higher ferritin concentrations (432[184-773] vs 204[78-354] ng/mL; p=0.002) than non-septic patients. These alterations were associated with a lower reticulocyte count (42[29-61] vs 58[48-77] x 10(3)/mm3; p=0.028). On day 1, CRP concentrations, which were higher in septic than in non-septic patients (20.0[13.5-27.5] vs 2.3[0.7-5.9] mg/dL; p<0.001), were directly correlated with ferritin concentrations (rho=0.55, p<0.001) and inversely correlated with transferrin concentrations (rho=-0.49, p=0.0001) and transferrin saturation (rho=-0.49, p=0.0001). After 3 days, iron and transferrin concentrations were identical in septic and non-septic patients. Iron metabolism remained altered in both populations until the 5th day. CONCLUSIONS: Iron status is rapidly altered in critically ill patients, especially in septic patients. These alterations persist during the course of the disease and are associated with decreased erythropoiesis.

Interlaboratory comparison of current high-performance methods for HbA2.

INTRODUCTION: Few data are available on the alignment of the different methods used for HbA(2) quantitation and recent external quality survey results show a consistent spread of HbA(2) values. To this aim, a comparison study among the actual best performing techniques for HbA(2) determination, comprising HPLC and CE methods, was performed. METHODS: A total of 80 blood samples collected from normal subjects and ß-thalassemia carriers were analyzed by different HPLC (Bio-Rad Variant I, Bio-Rad Variant II, Menarini HA-8160, Tosoh G7, Tosoh G8) and capillary electrophoresis (Beckman Coulter MDQ and ProteomeLab PA 800, Sebia Capillarys 2) methods. Patient's samples with clinically relevant hemoglobin variants (HbC, HbD, HbE, HbS, and δ-chain variants) were also tested by all methods. RESULTS: The mean within-run imprecision of HbA(2) measurement (expressed as CV, %) was between 0.5% and 4.4% (HPLC) and between 1.2% and 4.4% (capillary electrophoresis). The comparison study showed that the different methods were highly correlated (r between 0.974 and 0.997) although biased each other. HbA(2) determination in presence of abnormal hemoglobins was variously interfered by both HPLC and CE methods. Concerning HbF, the mean imprecision at HbF values ≥1.5% was between 1.2% and 8.2% (as CVs). CONCLUSIONS: A poor alignment of routine methods for HbA(2) measurement was found. The need of a better standardization of HbA(2) measurement procedures was underlined.

Hepatitis C infection markers among blood donors in Kisangani, Democratic Republic of Congo

Objectives: The role of blood transfusion in the spread of hepatitis C virus (HCV) is of concern in the DRC. Screened since the end of 2004 in blood donors, few data are however available on HCV in Kisangani. A study is needed to determine the seroprevalence of HCV in blood donors. Patients and method: 1247 blood samples collected from all volunteer blood donors who donated blood from August 1, 2005 to April 30, 2006 at the Provincial Blood Transfusion Centre were tested for anti-HCV antibodies. At the same time as HCV serology, markers for HIV and HBV were tested. Results: A total of 51(4.1%) volunteer blood donors (Table I) were HCV antibody positive. Fifty-two (4.2%) of the subjects were HIV positive and 60 (4.8%) were HBV positive. The mean age of HCV-positive donors was 31.4 years (±13.1) (Table II). HCV-positive seropositivity is lower among donors aged 17 to 24 years compared with those aged 25 years and older (p < 0.05). Positive HCV seropositivity is not related to gender. Conclusion: The seroprevalence of hepatitis C virus is relatively high like that of HIV among volunteer blood donors in Kisangani. It justifies that every blood donor be tested for HCV in order to prevent its transmission in Kisangani

[Qualitative analysis of the offer for prevention and caring of sickle cell anaemia in Brussels]. / Analyse qualitative de l'offre pour la prevention et la prise en charge de la drépanocytose à Bruxelles.

Sickle cell disease (SCD) is the first genetic disease in the world and remains largely ignored by the population but also by health professionals. SCD is characterized by a variable clinical expression, however most of the patients are at risk to develop acute and severe complications conducting to a fatal issue. This study develops a qualitative approach to analyze the adequacy between the services offered for those patients in Brussels and the sociocultural characteristics of the target population and more specifically of the migrant population originating of sub-saharan Africa which is the most concerned. To have a global vision of the preventive and care services provided for SCD in Brussels, semistructured interviews were conducted with health professionals and patients associations. The results were analyzed to determine if they match the expectations of health professionals and audiences across the voluntary sector. The results show the absence of a real recognition at the national level of sickle cell anaemia, a deficit in psychosocial care of patients and their families. SCD is often considered by the African community as a disease of the curse which has to be hidden. To the physical pain and multiple organ complications one must add a psychological distress that patients drive back into silence. The management of this disease therefore requires a dedicated approach. With the exception of newborn screening performed in all maternity hospitals in Brussels and Liège, there is no specific measure for the management of SCD in Belgium.

Early NT-proBNP is able to predict spontaneous closure of patent ductus arteriosus in preterm neonates, but not the need of its treatment.

The objective of this study was to establish the potential utility of N-terminal pro-brain natriuretic peptide (NT-proBNP) in the management of patent ductus arteriosus (PDA). This was a monocentric prospective blind study that was conducted in a referral neonatal intensive care unit. The patients were very low-birth-weight/gestational-age neonates. Babies with cardiac congenital anomaly other than PDA, life-threatening congenital malformation, severe asphyxia at birth, persistent pulmonary hypertension, and death within the first week of life were excluded. Plasma NT-proBNP concentrations were determined on days 2, 4, and 7 of life. Echocardiography was performed on days 4 and 7. Results were blinded to clinicians. Only echographic results were available upon request. Thirty-one infants were included. NT-proBNP levels were significantly correlated to ductal size and to left atrial-to-aortic diameter ratio. The median NT-proBNP on both days 2 and 4 was significantly higher in neonates with later treated or persistent PDA. A level above 10.000 pg/mL at 48 h of age yielded a 100% positive and a 87% negative predictive value to exclude spontaneous ductal closure. However, no NT-proBNP threshold could predict which PDA would be judged necessary to treat. It was concluded that early low NT-proBNP values can be used as a reliable independent marker to predict spontaneous ductal closure in preterm neonates. Yet, high NT-proBNP levels should not be used to guide the decision to treat PDA, the risk being of treating many bystanding PDAs.

Multiple transfusions for sickle cell disease in the Democratic Republic of Congo: the importance of the hepatitis C virus.

BACKGROUND AND OBJECTIVES: Improvement of transfusion security in sub-Saharan countries requires the determination of priorities taking into account the specific context. PATIENTS AND METHODS: One hundred and forty patients with sickle cell disease (SCD) from one clinical centre for SCD in Kisangani, DRC were tested for HBsAg, anti-HIV antibodies, anti-HCV antibodies and for alloantibodies against red blood cells and human leucocyte antigens (HLA). RESULTS: Thirteen patients had not been transfused and were free of HBV, HIV or HCV infection. HBV, HIV and HCV infections were detected in 2/127 (1.6%), 1/127 (0.9%) and 10/127 (7.9%) transfused patients, respectively. All ten cases of HCV infection were associated with patients who had transfusions prior to the introduction of HCV testing in 2004 (P=0.043). Red blood cells and HLA alloantibodies were detected in 13/127 (10%) and 2/127 (1.6%), respectively. CONCLUSION: HCV testing should be a priority. The rhesus (Rh) phenotype, mainly the RhD antigen and the Kell antigen should be assessed in SCD patients. Further extended phenotyping and deleucocytation should not be considered as priorities.

Sickle cell disease from Africa to Belgium, from neonatal screening to clinical management.

AIM: To describe the severity of sickle cell disease (SCD) in newborns in Belgium and evaluate the impact of neonatal screening (NS) on clinical outcome. METHODS: Universal NS of umbilical cord blood for hemoglobinopathy was progressively deployed in Brussels and Liège starting in 1994. No particular population was targeted. Samples were analyzed initially using the isoelectric focusing technique and since 2008 the capillary electrophoresis technique. If a hemoglobin variant was suspected, further analysis was carried out using high performance liquid chromatography. Children presenting major hemoglobinopathy, especially SCD, were referred to a specialized centre for comprehensive management. Preventive measures included antipneumococcal prophylaxis immunization/antibiotic therapy, parental training to recognize severe anemia and splenic sequestration, and transcranial ultrasound recording for early detection of intracranial stenosis. A database was set up in Belgium to collect clinical and laboratory data including parental phenotype, diagnostic technique (neonatal screening or not), major clinical events (episodes of dactylitis, acute chest syndrome, severe anemia, infection, etc), number and duration of required hospitalizations, and treatment used. RESULTS: Screening of 222352 newborns in maternity units in Brussels led to diagnosis of SCD in 145 patients, Adequate data for analysis of clinical outcome was available for 96 of these children born before 2007. Median age in the study group was 4.2 years and the total duration of follow-up was 510 years. Most cases occurred in families from the Democratic Republic of Congo. (64/96 patients; 66.7%) and involved homozygous hemoglobin S disease (80/96 patients; 83.3%). Twenty-seven percent of patients (26/96) presented no severe clinical events during the study (17 SS, median age 2,1 years (0-13.1 years). Conversely 33% presented an episode of dactylitis and 47.9% (46/96) presented recurrent vasoocclusive crises. Severe anemia was observed in 39.6% (38/96) of cases. Six patients (6.3%) developed septicemia despite prophylactic antibiotic therapy and anti-pneumococcal immunization using heptavalent conjugate vaccine and polysaccharide vaccine, No penicillin-resistant strains were observed. The incidence of stroke was 2.1% (3/96). Two patients presenting homozygous hemoglobin S disease died due to septicemia due to non-compliance with antibiotic therapy in one case and severe anemia in one case. All episodes of septicemia and both deaths occurred at the beginning of the NS program. Hydroxyurea therapy was used in 30 patients (31.2%) including 7 in whom transcranial Doppler depicted blood flow abnormalities and 8 in whom allogeneic bone marrow transplantation was performed. CONCLUSIONS: Sickle cell disease is still associated with high morbidity and mortality but clinical care has improved and no death has occurred in the last 10 years. NS is an effective tool for early detection and management of SCD. Neonates with SCD diagnosed by NS in Belgium presented severe manifestations, but clinical outcomes were improved by comprehensive management.

Prevalence of sickle cell disease in a northeastern region of the Democratic Republic of Congo: what impact on transfusion policy?

Transfusion therapy may save the lives of patients with sickle cell disease (SCD), but it is also associated with a high risk of transmission of infection. The aims of this study were to determine the prevalence of SCD in a northeastern region of the Democratic Republic of Congo (DRC), and to define ways in which the procedures involved in the security of transfusions should be improved. During a 3-month period in 2006/2007, 520 samples of umbilical cord blood were obtained through neonatal screening in five health centres in Kisangani. The samples were analysed using an isoelectric focusing technique. The estimated prevalence of sickle cell trait and SCD in the population tested was 23.3 and 0.96%, respectively. These numbers will be presented for the attention of the health authorities in DRC with responsibility for SCD and they will be asked to consider improvements in treatment procedures for SCD, such as blood transfusions, as a public health priority.

[Hemoglobin sickle cell disease: experience of the Yalgado Ouedraogo University Hospital of Ouagadougou, Burkina Faso]. / Le syndrome drépanocytaire de type hémoglobine SC : expérience du CHU Yalgado Ouédraogo de Ouagadougou (Burkina Faso).

OBJECTIVES: To evaluate the clinical features of children with hemoglobin sickle cell disease (HbSC) and compare them to children with sickle cell anemia (HbSS). POPULATION AND METHODS: This was a descriptive and retrospective study. New patients with sickle cell disease who consulted at the Yalgado Ouédraogo University Hospital's Pediatric Center in Ouagadougou, Burkina Faso, between May 2005 and June 2006, were included. They were free of any major disease unrelated to sickle cell disease. Clinical and laboratory results reported for these children were based on their health book and medical records. RESULTS: Sixty-one children were included in the study, 38 and 23 children were positive for HbSC and HbSS, respectively; there was no significant difference between the 2 groups in terms of sex ratio or mean age at inclusion. Mean age at diagnosis was 5 years and 2 years for HbSC and HbSS children, respectively. The first clinical event appeared at a significantly later age for HbSC than HbSS children (4 years versus 2 years). Painful episodes were equivalent in mean number per year and mean length per episode between the 2 groups; the median hemoglobin (Hb) level at inclusion was significantly higher for HbSC than for HbSS children, i.e., 95 g/l versus 70 g/l. CONCLUSION: At the Yalgado Ouédraogo University Hospital Pediatric Center, children with HbSC disease presented clinical and biological features very similar to those with HbSS.

[Major alpha-thalassemia: antenatal diagnosis, case report and literature review]. / Alpha-thalassémie majeure: à propos d'un cas de dépistage anténatal et revue de la littérature.

Homozygous alpha-thalassaemia or Bart's hydrops fetalis is a genetic disease with autosomal recessive transmission. The condition is lethal for the fetus because of hypoxia and anemia. For the mother there is an increased risk of the severe forms of preeclampsia and its complications. The diagnosis can be suspected in presence of suggestive ultrasonographic anomalies, where both parents come from South-East Asia or China. Confirmation is based on the identification of the typical deletions or mutation of the alpha globin gene by molecular genetics. We report a rare clinical case of Bart's hydrops fetalis diagnosed because of fetal growth retardation, fetal cardiomegaly and increased size of placenta on the 26 weeks fetal echography. This case underscores the need to include the alpha thalassemias in medical and midwifery education in countries where they were almost inexistent a generation ago.

Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns.

BACKGROUND: Despite the high prevalence of sickle cell disease in Africa, a neonatal screening programme is available in only a few countries in the sub-Saharan region. AIM: To describe our experience of a pioneer study on 31,304 newborns screened systematically in the Democratic Republic of the Congo. METHODS: The prevalence of haemoglobinopathies was determined by a thin-layer isoelectric focusing method on dry filter-paper samples. RESULTS: Of the 31,204 newborns screened by isoelectric focusing, 5,276 (16.9%) displayed sickle cell trait and 428 (1.4%) were homozygous for haemoglobin S. No statistical differences were observed in the different ethno-linguistic groups, but some tribes displayed a higher prevalence of the betaS gene, attributable to a higher prevalence of malaria, and a greater frequency of haemoglobin S homozygotes, in part attributable to an endogamic marriage system. CONCLUSION: The neonatal screening programme has now been introduced in the Democratic Republic of the Congo, but the main challenges are to track all the new cases for a confirmatory test and to initiate early management.

Neonatal haemoglobinopathy screening in Burkina Faso.

AIMS: To report our experience of neonatal screening for sickle cell disease in Ouagadougou (Burkina Faso) and to discuss the feasibility of neonatal screening in this country. METHODS: Between the years 2000 and 2004, there were about 2,341 births in five maternity services in Ouagadougou. These babies were screened for sickle cell disease in a universal screening pilot programme. In 2006, 53 babies born to selected couples were screened. The specimens were collected either by cord blood sampling or from a dried blood spot on filter paper. The screening was performed using an isoelectric focusing technique. RESULTS: In the first stage (2000-4), the incidence of sickle cell disease was 1:57. In the second stage, six of 53 babies of selected couples were found to have major haemoglobinopathies: one was homozygous for haemoglobin S and five were compound heterozygotes for haemoglobins S and C. CONCLUSIONS: The results suggest that a national screening programme should be implemented in Burkina Faso with effective newborn and subsequent follow-up, but a methodology needs to be developed.

Neonatal haemoglobinopathy screening in Belgium.

BACKGROUND: A neonatal haemoglobinopathy screening programme was implemented in Brussels more than a decade ago and in Liège 5 years ago; the programme was adapted to the local situation. METHODS: Neonatal screening for haemoglobinopathies was universal, performed using liquid cord blood and an isoelectric focusing technique. All samples with abnormalities underwent confirmatory testing. Major and minor haemoglobinopathies were reported. Affected children were referred to a specialist centre. A central database in which all screening results were stored was available and accessible to local care workers. A central clinical database to monitor follow-up is under construction. RESULTS: A total of 191,783 newborns were screened. One hundred and twenty-three (1:1559) newborns were diagnosed with sickle cell disease, seven (1:27,398) with beta thalassaemia major, five (1:38,357) with haemoglobin H disease, and seven (1:27,398) with haemoglobin C disease. All major haemoglobinopathies were confirmed, and follow-up of the infants was undertaken except for three infants who did not attend the first medical consultation despite all efforts. CONCLUSIONS: The universal neonatal screening programme was effective because no case of major haemoglobinopathy was identified after the neonatal period. The affected children received dedicated medical care from birth. The screening programme, and specifically the reporting of minor haemoglobinopathies, has been an excellent health education tool in Belgium for more than 12 years.

[Sickle cell disease: an anonymous survey of physicians in Burkina Faso]. / Les syndromes drépanocytaires majeurs: une enquête anonyme auprès du corps médical au Burkina Faso.

The purpose of this survey was to evaluate the experience of physicians in Burkina Faso with haemoglobinopathy (particularly sickle cell disease). Survey findings showed that these pathologies were encountered in daily medical practice but that resources necessary to insure proper prevention, follow-up and treatment were insufficient. Practitioners expressed the need for better continuous medical education and for information campaigns to familiarize the public.

Neonatal screening and clinical care programmes for sickle cell disorders in sub-Saharan Africa: lessons from pilot studies.

OBJECTIVES: Despite the widespread use of neonatal screening programmes for sickle cell disease in Western regions, few studies have focused on the special healthcare needs in sub-Saharan African countries. The purpose of this review is to evaluate the need for a neonatal screening programme for sickle cell disease, and if justified, to propose a realistic healthcare programme for sickle cell newborns in those countries based on personal experiences in Kinshasa (Democratic Republic of the Congo) and Ouagadougou (Burkina Faso) as well as from a review of the literature. REVIEW: There are well-established criteria for the development of neonatal screening programmes for sickle cell disease in sub-Saharan African countries. In particular, in regions where incidence of the disease is 0.5 per 1000 or higher, a sickle cell screening programme can be proposed that includes the systematic screening of all newborns, or the targeted screening of those newborns who have a mother with a sickle cell or haemoglobin C trait. Screening should be preferentially organized using cord blood, with a simple, effective and affordable screening method such as isoelectric focusing. If necessary, confirmation of results should be performed using another cost-effective technique such as citrate agar electrophoresis at an acidic pH. There is also a need for a sickle cell disease clinical care programme which should include: infection prophylaxis with penicillin and malarial prophylaxis; family training to identify early severe or persistent symptoms and the gravity of malarial crises; the evaluation of nutritional status and adequate fluid intake; and the importance of regular medical visits. Improved knowledge of the diagnosis was found to reduce the need for unnecessary and unsafe blood transfusions. CONCLUSIONS: This paper provides an overview of practices employed in neonatal screening and clinical care programmes for sickle cell disease in sub-Saharan African countries. The development of these programmes is pivotal to improving the health care of those affected by haemoglobin disorders. However, such programmes require major economic and organizational resources, which must taken into account and balanced against other local health priorities.

Les syndromes drepanocytaires majeurs : une enquete anonyme aupres du corps medical au Burkina Faso

Cette etude evalue l'experience medicale vis-a-vis des hemoglobinopathies et en particulier des syndromes drepanocytaires au Burkina Faso. Un questionnaire a reponses a choix multiple et a reponses libres a ete utilise. L'etude montre que ces pathologies sont rencontrees dans la pratique quotidienne; mais que les moyens mis a disposition des medecins pour la prevention; le suivi et le traitement de celles-ci sont limites. Une amelioration dans la formation medicale continue et dans l'information du public ont ete souhaitees par les medecins interroges

Epidemiology of haemoglobin disorders in Europe: an overview.

OBJECTIVE: As a result of global population movements, haemoglobin disorders (thalassaemias and sickle cell disorders) are increasingly common in the formerly non-indigenous countries of Northern and Western Europe and in the indigenous countries of Southern Europe. This article presents an overview of the changing picture and a method for assessing service needs. METHOD: Data on country of birth or ethnic origin of residents are adjusted to obtain the estimated proportions of residents and births in non-indigenous groups at risk for haemoglobin disorders in European countries. The results are combined with prevalence data in each country of origin to obtain country prevalence estimates. Service indicators (annual tests or other interventions required to ensure equitable delivery of treatment and prevention) are then derived by country. RESULTS: Haemoglobin disorders now occur at comparable frequency throughout Northern, Western and Southern Europe. Annually, there are more affected conceptions in Northern and Western than in Southern Europe, and sickle cell disorders are more common than thalassaemias. There is growing need for health policy-makers to support motivated professionals working to develop optimal patient care, carrier diagnosis, genetic counselling and access to prenatal diagnosis throughout the Region. CONCLUSION: There is a strong case for pan-European collaboration on haemoglobin disorders to share policies, standards and the instruments required to support them. These include methods for needs assessment, service standards, education and information strategies and materials, and methods for evaluating service delivery.