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INTRODUCTION NlmCategory: BACKGROUND content: In the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate diagnosis and treatment for the population. The pattern of rare communicable diseases that can affect people returning to EU/EEA from travel abroad, visiting EU/EEA or establishing in the EU/EEA is of special relevance. The objective of this manuscript is to give an overview about the EURaDMoG study and discuss the feasibility of establishing a European network on rare communicable diseases and other rare conditions linked to mobility and globalization. - Label: METHODS NlmCategory: METHODS content: We undertook a three-steps process where we first conducted a narrative review to estimate the prevalence and incidence and to list rare communicable and non-communicable diseases linked to mobility and globalization in the EU/EEA; second, we organized an international consultation workshop with experts in the diseases previously selected; and finally, the feasibility study analysed how successful a European expert network on rare diseases linked to mobility and globalization focused on health care provision would be, accounting for different operational and also sustainability criteria. - Label: RESULTS NlmCategory: RESULTS content: "First, considering the areas or topics that the network should cover, it was concluded that communicable and non-communicable rare diseases linked to mobility and globalization should be differentiated. Second, since all non-communicable rare diseases linked to mobility and globalization identified are already covered by different European Reference Networks (ERNs), there is no need for them to be included in a new European network. Three scenarios were considered for establishing a potential European network for rare communicable diseases linked to Mobility and Globalisation with a focus on Health Care provision: 1) To maintain the current situation \"Status Quo\" scenario; 2) to create a specific European expert network (EEN) on rare communicable diseases linked to mobility and globalisation; 3) to develop a new ERN on communicable rare diseases linked to mobility and globalisation." - Label: CONCLUSIONS NlmCategory: CONCLUSIONS content: Since the focus is the provision of health care, an ERN could have the potential to better boost the quality of care being facilitated by technological tools and online platforms that permit the safe and ethically acceptable exchange of data. However, this potential new network should not eclipse current existing networks and they should be complementary.

Objectives: This study aims to investigate, retrospectively, the epidemiological and clinical characteristics, laboratory results, radiologic findings and outcomes of novel coronavirus disease-19 (COVID-19) in patients with transfusion dependent β thalassemia (β-thalassemia major-TM), non-transfusion dependent β thalassemia (β-thalassemia intermedia -TI) and sickle cell disease (SCD). Design, setting: A total of 17 Centers, from 10 countries, following 9,499 patients with hemoglobinopathies participated in the survey. Main outcome measures: Clinical, laboratory and radiologic findings and outcomes of patients with COVID-19 were collected from medical records and summarized. Results: A total of 13 patients, 7 with TM, 3 with TI and 3 with SCD, with confirmed COVID-19, were identified from 6 Centers from different countries. The overall mean age of patients was 33.7±12.3 years (range:13-66); 9/13 (69.2%) patients were females. The commonest symptoms in the 10 symptomatic patients were: fever (80%), cough (70%), headache (60%), fatigue (60%), gastrointestinal symptoms (diarrhea /vomiting/abdominal pain; 50%), tachypnea/dyspnea (40%), and sore throat (40%). Six patients had pneumonia (unilateral, bilateral or multiple opacity) and 4 needed oxygen therapy. An oxygen saturation ≤ 93% was documented in 3 patients at diagnosis. 6/10 patients had an exacerbation of anemia (2 with SCD, associated with back and chest pain in 1 patient), and 3 (

Background: Pyruvate kinase (PK) deficiency is a rare, congenital, glycolytic enzyme defect that leads to chronic hemolytic anemia. Despite existing supportive therapies, many patients (pts) experience significant complications, including iron overload (FeO). FeO in PK deficiency is clinically underappreciated and may cause long-term organ damage and impact growth in children and adults. Objective: To describe characteristics and disease burden of pts with PK deficiency and a history of FeO by age group (pediatric cohort, Methods: The Peak Registry is an ongoing, global retrospective and prospective observational study of adult and pediatric pts diagnosed with PK deficiency. For this analysis, pts were considered to have a history of FeO if they had ever received 1) chelation therapy; or 2) phlebotomy for removal of iron; or within 3 months of enrollment had 3) ferritin >1000 ng/mL; or 4) liver MRI >3 mg Fe/g dry weight; or 5) FerriScan® >3 mg Fe/g dry weight; or 6) cardiac T2* MRI ≤20 ms. Data on demographics, medical history, treatment, clinical assessment, and laboratory testing collected at study enrollment were summarized descriptively among pts with a history of FeO. Results: As of the 24Mar2020 data cut, 57/140 (40.7%) enrolled pts had a history of FeO (adult cohort N=28; pediatric cohort N=29); data from these 57 pts were used for this analysis. Average age at enrollment for adult and pediatric cohorts was 37.3 yrs (standard deviation [SD]: 14.80) and 7.7 yrs (SD: 4.64), respectively. PKLR genotype information was available for 21 adult and 15 pediatric pts; among the 21 adults, 13 (61.9%) had two missense mutations (M/M), 7 (33.3%) had one missense/one non-missense mutation (M/NM), and 1 (4.8%) had two non-missense mutations (NM/NM); among the 15 pediatric pts, 3 (20%) had M/M, 7 (46.7%) had M/NM, and 5 (33.3%) had NM/NM (Table). Among pts with known transfusion status, 6/56 FeO pts (10.7%) had never received a transfusion, with all other pts having received ≥1 prior transfusion (ever-transfused). Median hemoglobin (Hb) level at the time of enrollment was 8.6 g/dL (range: 6.7-12.5) in ever-transfused adults and 10.9 g/dL (9.3-11.3) in never-transfused adults. In pediatric pts (all ever-transfused), median Hb at enrollment was 8.3 g/dL (6.8-10.8). Most ever-transfused pts had received chelation therapy (18/20 [90.0%] adults, 28/29 [96.6%] pediatrics). Of the 6 pts who had never been transfused, 3 (50.0%) had received chelation therapy. Transfusion details for the 12 months prior to enrollment were available for 23 adults, of whom 5 (21.7%) had been regularly transfused (≥6 transfusions) and 18 (78.2%) had not been regularly transfused (0-5 transfusions); in the pediatric cohort (n=24), 8 (33.3%) pts had been regularly transfused and 16 (66.7%) had not. In the prior 12 months, regularly transfused adult and pediatric pts each received an average of about 10 transfusions whereas non-regularly transfused adult and pediatric pts received about 1 transfusion (Table). Additionally, 24/28 (85.7%) adult and 15/29 (51.7%) pediatric pts with FeO had a splenectomy, with median age at splenectomy of 6.5 yrs (range: 1-23 yrs) for the adult cohort and 6.0 yrs (4-12 yrs) for the pediatric cohort. Chelation therapy had been utilized by 20/23 (87.0%) splenectomized adults and 2/4 (50.0%) non-splenectomized adults, while 15/15 (100.0%) splenectomized pediatric pts and 13/14 (92.9%) non-splenectomized pediatric pts had received chelation therapy. Conclusion: These data indicate that FeO is a common complication affecting around 40% of PK deficient pts in this cohort, regardless of age, genotype, transfusion status, or severity. While a large proportion of these pts with PK deficiency and FeO have a high transfusion burden and/or have been splenectomized, FeO still occurs in both adult and pediatric pts without splenectomies, in pts who are not regularly transfused, and even in those who have never been transfused. This analysis supports the need for an initial evaluation and regular monitoring of FeO in all pts with PK deficiency, independent of transfusion status, splenectomy history, or genotype, starting early in life and continuing throughout adulthood. The longitudinal (up to 9 yrs) design of the Peak Registry will allow for continued monitoring and follow-up of FeO and related long-term complications in pts with PK deficiency. Figure 1 Figure 1. Disclosures Bianchi: Agios pharmaceutics: Consultancy, Membership on an entity's Board of Directors or advisory committees. Grace: Novartis: Research Funding; Principia: Membership on an entity's Board of Directors or advisory committees; Dova: Membership on an entity's Board of Directors or advisory committees, Research Funding; Agios: Research Funding. Glader: Agios: Consultancy. Glenthøj: Novo Nordisk: Honoraria; Agios: Consultancy, Membership on an entity's Board of Directors or advisory committees; Novartis: Consultancy, Membership on an entity's Board of Directors or advisory committees; bluebird bio: Consultancy, Membership on an entity's Board of Directors or advisory committees; Celgene: Consultancy, Membership on an entity's Board of Directors or advisory committees; Alexion: Research Funding. Kuo: Bluebird Bio: Consultancy; Pfizer: Consultancy, Research Funding; Alexion: Consultancy, Honoraria; Agios: Consultancy, Membership on an entity's Board of Directors or advisory committees; Celgene: Consultancy; Novartis: Consultancy, Honoraria; Bioverativ: Membership on an entity's Board of Directors or advisory committees; Apellis: Consultancy. Lander: Agios: Other: PK Deficiency Patient Advocacy Advisory Council - patient representative. Layton: Novartis: Consultancy, Membership on an entity's Board of Directors or advisory committees; Agios Pharmaceuticals: Consultancy, Membership on an entity's Board of Directors or advisory committees; Cerus: Membership on an entity's Board of Directors or advisory committees. Viprakasit: Agios: Consultancy, Research Funding; Vifor Pharma: Consultancy, Research Funding; Bristol-Myers Squibb: Consultancy, Honoraria, Research Funding, Speakers Bureau; Protagonist Therapeutics: Consultancy, Research Funding; Ionis Pharmaceuticals,: Consultancy, Research Funding; La Jolla Pharmaceuticals: Consultancy, Research Funding. Williams: Agios: Current Employment, Current holder of stock options in a privately-held company. Yan: Agios: Consultancy. McGee: Agios Pharmaceuticals: Current Employment, Current equity holder in publicly-traded company. Van Beers: Agios Pharmaceuticals: Membership on an entity's Board of Directors or advisory committees, Research Funding; Novartis: Research Funding; Pfizer: Research Funding; RR Mechatronics: Research Funding.

Electrophysiology; Haemolytic anemia; Hereditary spherocytosis Electrofisiologia; Anemia hemolítica; Esferocitosi hereditaria Electrofisiologia; Anèmia hemolítica; Esferocitosi hereditària Congenital haemolytic anaemias are inherited disorders caused by red blood cell membrane and cytoskeletal protein defects, deviant hemoglobin synthesis and metabolic enzyme deficiencies. In many cases, although the causing mutation might be known, the pathophysiology and the connection between the particular mutation and the symptoms of the disease are not completely understood. Thus effective treatment is lagging behind. As in many cases abnormal red blood cell cation content and cation leaks go along with the disease, by direct electrophysiological measurements of the general conductance of red blood cells, we aimed to assess if changes in the membrane conductance could be a possible cause. We recorded whole-cell currents from 29 patients with different types of congenital haemolytic anaemias: 14 with hereditary spherocytosis due to mutations in α-spectrin, β-spectrin, ankyrin and band 3 protein; 6 patients with hereditary xerocytosis due to mutations in Piezo1; 6 patients with enzymatic disorders (3 patients with glucose-6-phosphate dehydrogenase deficiency, 1 patient with pyruvate kinase deficiency, 1 patient with glutamate-cysteine ligase deficiency and 1 patient with glutathione reductase deficiency), 1 patient with β-thalassemia and 2 patients, carriers of several mutations and a complex genotype. While the patients with β-thalassemia and metabolic enzyme deficiencies showed no changes in their membrane conductance, the patients with hereditary spherocytosis and hereditary xerocytosis showed largely variable results depending on the underlying mutation.

Rare anemias and inherited bone marrow failure syndromes are characterized, respectively, by decreased concentrations of hemoglobin or defects in the production of hematopoietic cells leading to single to multiple lineage cytopenias. They are rare and difficult to diagnose due to clinical, cytological and genetic heterogeneity. In this paper, we first address the diagnosis of rare anemias and their causes including marrow failures, erythrocyte defects and disorders of red cell metabolism factors involved in erythrocyte maturation. Finally, we introduce inherited bone marrow failure syndromes and their associated pathologies such as congenital malformations and tumor predisposition, with particular emphasis on the most common diseases: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia and Shwachman-Diamond syndrome., Las anemias raras y los fallos medulares hereditarios son enfermedades hematológicas caracterizadas, respectivamente, por una disminución de la concentración de hemoglobina o por diversos grados de defectos en la producción de células hematopoyéticas que conducen desde una citopenia de un solo linaje hasta una de múltiples linajes. Son enfermedades raras y difíciles de diagnosticar debido a la heterogeneidad clínica, citológica y genética. En este artículo abordaremos en primer lugar el diagnóstico de las anemias raras y sus causas principales: fallos medulares, defectos del hematíe y trastornos del metabolismo de los factores de maduración eritrocitario. Seguidamente introduciremos los fallos medulares hereditarios y su patología asociada, como son las malformaciones congénitas y la predisposición tumoral, haciendo especial hincapié en los más frecuentes: la anemia de Fanconi, la disqueratosis congénitca, la anemia de Diamond-Blackfan y el síndrome de Shwachman-Diamond.

Pyruvate kinase (PK) deficiency is an autosomal recessive disease caused by mutations in the PKLR gene that lead to reduced red blood cell PK (PK-R) enzyme activity. This rare hereditary glycolytic enzymopathy, with over 300 causative PKLR mutations identified to date, results in defective red blood cell glycolysis and hemolytic anemia. While the clinical presentation is variable, patients with PK deficiency may experience symptoms of hemolytic anemia, most commonly fatigue (sometimes extreme), jaundice, and dyspnea. No disease-specific therapy currently exists and treatment is limited to supportive care, including red blood cell transfusions, splenectomy/cholecystectomy, and iron chelation. Affected neonates may need phototherapy or exchange transfusions for severe hyperbilirubinemia. Allogeneic stem cell transplantation may cure the disease but experience is limited and the outcome is variable. Due the rarity of PK deficiency, its prevalence, clinical burden, and long-term clinical course are not well defined. To address this gap, Boston Children's Hospital is nearing completion of the observational PK deficiency Natural History Study (ClinicalTrials.gov NCT02053480; N=254) to better understand the natural history and clinical burden of the disease. This longitudinal analysis (2-year follow-up) will report on PK deficiency-related signs, symptoms, and treatment outcomes. In order to continue and expand upon the collection of longitudinal data for PK deficiency, the Pyruvate Kinase Deficiency Global Longitudinal Registry (the PEAK Registry; NCT03481738) was developed. This registry study is a global, longitudinal, observational study for adult and pediatric patients with PK deficiency. Its primary objective is to record the natural history, treatment, outcomes, variability in clinical manifestations, and disease burden of patients with PK deficiency. Secondary objectives include data collection to assess the prevalence, incidence, and complications associated with PK deficiency; evaluate pregnancy outcomes; and investigate possible phenotype-genotype correlations. The study also aims to provide longitudinal data to assist physicians with the clinical management of individual patients. In order to maximize the amount of longitudinal data available, a novel data management system is being employed to harmonize Natural History Study and PEAK Registry data. Approximately 500 patients will be enrolled over 7 years at an estimated 60 study centers in up to 20 countries in the 9-year study. All enrolled patients will be followed prospectively for at least 2 years and up to 9 years. Site and patient recruitment began in 2018. As of July 2019, 43 sites in 11 countries are active (Figure) and site recruitment has begun in Thailand, South Korea, and Australia. An update on patient enrollment will be provided. Disclosures Grace: Agios Pharmaceuticals, Inc: Consultancy, Membership on an entity's Board of Directors or advisory committees, Research Funding; Novartis: Research Funding. Bianchi:Agios Pharmaceuticals, Inc.: Consultancy. Glader:Agios Pharmaceuticals, Inc: Consultancy, Membership on an entity's Board of Directors or advisory committees, Research Funding. Glenthøj:Celgene: Consultancy; Novo Nordisk: Honoraria; Alexion: Research Funding; Novartis: Consultancy; Agios Pharmaceuticals, Inc.: Consultancy. Jones:Agios Pharmaceuticals, Inc.: Employment, Equity Ownership. Kanno:Agios Pharmaceuticals, Inc.: Honoraria. Kuo:Pfizer: Consultancy; Novartis: Consultancy, Honoraria; Celgene: Consultancy; Bluebird Bio: Consultancy; Bioverativ: Other: Data Safety Monitoring Board; Agios: Consultancy; Alexion: Consultancy, Honoraria; Apellis: Consultancy. Layton:Novartis: Membership on an entity's Board of Directors or advisory committees; Agios: Membership on an entity's Board of Directors or advisory committees; Cerus Corporation: Membership on an entity's Board of Directors or advisory committees. van Beers:Pfizer: Research Funding; RR Mechatronics: Research Funding; Agios Pharmaceuticals, Inc.: Membership on an entity's Board of Directors or advisory committees, Research Funding; Novartis: Consultancy, Research Funding. Xu:Agios: Employment, Equity Ownership.

Changes in thyroid function and thyroid function tests occur in patients with β-thalassemia major (TM). The frequency of hypothyroidism in TM patients ranges from 4% to 29 % in different reports. The wide variation has been attributed to several factors such as patients' genotype, age, ethnic variations, treatment protocols of transfusions and chelation, and varying compliance to treatment. Hypothyroidism is the result of primary gland failure or insufficient thy­roid gland stimulation by the hypothalamus or pituitary gland. The main laboratory parameters of thyroid function are the assessments of serum thyroid-stimulating hor­mone (TSH) and serum free thyroxine (FT4). It is of primary importance to interpret these measure­ments within the context of the laboratory-specific normative range for each test. An ele­vated serum TSH level with a normal range of serum FT4 level is consistent with subclinical hypothyroidism. A low serum FT4 level with a low, or inappropriately normal, serum TSH level is consistent with secondary hypothyroidism. Doctors caring for TM patients most commonly encounter subjects with subclinical primary hypothy­roidism in the second decade of life. Several aspects remain to be elucidated as the frequency of thyroid cancer and the possible existence of a relationship between thyroid dysfunction on one hand, cardiovascular diseases, components of metabolic syndrome (insulin resistance) and hypercoagulable state on the other hand. Further studies are needed to explain these emerging issues. Following a brief description of thyroid hormone regulation, production and actions, this article is conceptually divided into two parts; the first reports the spectrum of thyroid disease occurring in patients with TM, and the second part focuses on the emerging issues and the open problems in TM patients with thyroid disorders.

Fundamento y objetivo: Las hemoglobinopatias inestables presentan sustituciones de aminoacidos en lugares criticos de la molecula que disminuyen su solubilidad y facilitan su desnaturalizacion y precipitacion. Se describe aqui el primer caso de hemoglobina (Hb) Newcastle en Espana. Caso clinico: Nina de 5 anos que consulto por fiebre de 4 dias. En la exploracion fisica destacaban palidez cutanea y mucosa, subictericia y esplenomegalia. En la analitica sanguinea destacaban: Hb de 79 g/l, hematocrito del 27%, volumen corpuscular medio de 93,4 fl y reticulocitos del 3%. En el frotis de sangre periferica destacaban anisocitosis y policromasia. Resultados: La prueba de estabilidad termica fue positiva. La electroforesis mostro una banda difusa entre HbA2 y HbA. La cromatografia liquida de alta resolucion (HPLC) mostro una Hb no identificada, que correspondia al 12% del total. El estudio molecular demostro la mutacion CD92 His * Pro, Hb Newcastle en estado heterocigoto, patron que se repitio en la madre. Conclusiones: La Hb Newcastle se ha descrito anteriormente en 3 pacientes de origen ingles, ruso y chino. Su expresividad clinica es de anemia hemolitica cronica con crisis de agudizacion tras la ingesta de farmacos oxidantes o infecciones. A diferencia de la electroforesis, la HPLC permite el diagnostico diferencial entre la Hb Newcastle y otras Hb inestables como la Hb Koln.

The Community added value of Centres of Expertise (CoE) and European Reference Networks (ERN) is particularly high for rare diseases (RD) due to the rarity of these conditions, which implies both a small number of patients and scarcity of expertise within a single country. Gathering expertise at the European level is therefore, paramount in order to ensure equal access to accurate information, appropriate and timely diagnosis and high quality clinical care and follow up for patients with rare diseases. This applies particularly to rare anaemias due to the high number of different rare diseases that constitute this group. In this context, the European Network for Rare and Congenital Anaemias (ENERCA), co-financed by the European Commission, was created in 2002 with the aim of prevention and management of rare anaemias (RA) and the development and promotion of policies to improve the well-being of European Union citizens. The ENERCA White Book is a position paper, developed as a deliverable of the ENERCA (phase 3) project that intends to contribute to the creation of a ERN in RA (ERN-RA) by preparation of the recommendations and, in particular, the definition of the criteria that CoE, local centres (LC) and their interrelations have to fulfil as healthcare providers. It has been nourished by all the activities that have been performed over the past ten years within the ENERCA framework. The White Book is addressed to authorities in charge of the identifying CoE, as an essential requirement for the official recognition of the ERN, to European and national health authorities, Healthcare centres and health professionals, as well as to all other stakeholders interested in RA. It is also addressed to the patients, as a way to empower their community in this process. One particular characteristic of the White Book is the integration of the three main aspects of a CoE: (a) ethical and legal frameworks to ensure the non-discrimination and non-stigmatisation of rare disease patients across Europe, within their sphere of competencies; (b) clinical and laboratory frameworks for defining technical and quality criteria including scope, general and disease specific elements currently defined as technical and professional standards for the diagnosis, treatment and follow-up of patients with RA; and (c) the expectations patients have of CoE. Conceived as a working tool directed to a broad range of stakeholders, the White book has been designed and structured to be comprehensible even to non-technical and /or non-professional audiences. The reader will find an up-to-date description and epidemiological information on RA as well as the European Union background policies for defining CoE and ERN-RA. A working group was created with experts of different profiles, known as the European Working Group on Rare Anaemias (EGRA). In order to achieve its objectives, the methodology used by EGRA, was characterised by three main principles: Interdisciplinary, European coverage, and evidence-based principles. Work has been developed into four sequential steps: 1. Analysis of the current situation of RA in Europe by healthcare professionals in order to identify the most relevant issues that have to be addressed by a centre in order for it to be recommended as CoE. 2. Preparation of questionnaires to perform surveys on how the relevant issues identified in step 1 can be translated into practical recommendations. 3. Analysis of the questionnaire results by face to face meetings, feedback and consensus evaluation, and 4. Preparation of a report on ENERCA policy recommendations for CoE. This report is presented in a user-friendly format, easy to understand and available through the ENERCA website (www.enerca.org). Several important conclusions can be drawn from the ENERCA White Book, including the importance of laboratories involved in the diagnosis of RA, patient oriented and multidisciplinary care at the CoE, the need for coordination and cooperation within and outside the centre, the provision of information to patients and health professionals and the involvement of public authorities at the national and European levels. Official recognition of this structure and assurance of its long term sustainability will only be achieved if public authorities work hand by hand with both professionals experts in different disciplines and patients. Finally, the ENERCA White book aims to be a practical tool for health authorities of Member States (MS) that are preparing their national directory of formally designated CoE. For this, it is important that MS authorities recognise RA as an important health component to be included within the National Plans or Actions for Rare Diseases.

With the development of sophisticated automated blood cell analyzers, the proportion of blood samples that require a blood smear examination has steadily decreased. Microscopic examination of stained blood smear, however, still remains a crucial diagnostic aid if an automated instrument produces a highly improbable or doubtful result or abnormal cell flags and it is, in general, performed from anticoagulant whole blood according to standardized procedure.Because of transfer process of collected blood samples the it is of utmost importance to analyse and recognize the effect of EDTA-anticoagulated whole blood storage on cell morphology examination.

Migration from different parts of the world to several European countries leads to the introduction of haemoglobinopathy genes into the population, which creates several demanding needs for prevention and treatment services for Hb disorders. In this paper we examined the degree to which European health services have responded to such challenges and in particular to health services necessary to address the needs of patients with thalassaemia and sickle cell disease (SCD). Information on available services was obtained from international organizations, collaborated European project, and the Thalassaemia International Federation (TIF) Databases, which include information from published surveys, registries, field trips, and delegation visits to countries and regions by expert advisors, local associations, and other collaborators’ reports. Results show that countries with traditional strong prevention and treatment programs are well prepared to face the above challenges, while others are urgently needed to address these problems in a systematic way. The Thalassaemia International Federation (TIF) is committed to monitor the progress, raise awareness, and support the promotion of more immigrant-oriented health policies to ensure their integration in society and their access to appropriate, adequate, and timely health services.

Registry and epidemiological data of Rare Anaemias (RA) in Europe is in general still incomplete and/or partially documented. One important issue is the increasing prevalence of haemoglobin disorders (HD) due to migrations from high prevalence areas. The size of the problem, particularly for sickle cell disease (SCD), is already having an impact on health services in many European countries. The best known cause of rare anaemias associated with congenital haemolytic anaemia (CHA) in Europe is Hereditary Spherocytosis (HS) a red blood cell (RBC) membrane defect with a prevalence of 1 to 5 cases per 10.000 individuals. Some other causes of CHA are extremely rare and only few individual cases have been described worldwide (i.e. some RBC enzymopathies). Congenital defects of erythropoiesis are less frequent Diamond-Blackfan Anaemia (DBA) and Fanconi Anaemia (FA) exhibit a very low prevalence ranging from 4 to 7 per million live births. Congenital Dyserythropoietic Anaemia (CDA), a genetically heterogenous group, is still less frequent and exhibits a large variability of frequency depending on the European region: 0.1-3.0 cases per million births In addition many cases are known from a large autosomal dominant family in Sweden. Although incidence of Paroxysmal Nocturnal Haemoglobinuria (PNH) in Europe is still unknown, data collection from different sources has given quotes of 1 case per 100,000 individuals to 5 cases per million births.

Hereditary xerocytosis is a rare hemolytic anemia in which erythrocytes are dehydrated due to a loss of potassium and water through their cell wall membrane. In adults, this condition leads to a mild-to-moderate hemolysis. We report a case of hydrops fetalis secondary to hereditary xerocytosis. Management with intrauterine erythrocyte and albumin transfusions resulted in a favorable postnatal course.

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