Efthymia Vlachaki

Aristotle University of Thessaloniki | AUTH · Adults Thalassemia Unit, Second Department Of Internal Medicine, Ippokrateon General Hospital, Thessaloniki

Background/Objectives: B-thalassemia is a genetic disorder that leads to reduced or absent β-globin chains, often resulting in endocrine abnormalities due to iron overload, chronic anemia, and hypoxia. This study investigates the prevalence and risk factors for glucose metabolism disturbances in transfusion-dependent β-thalassemia (TDT) patients, f...

Introduction. Luspatercept has been recently approved for the treatment of red blood cell (RBC) transfusion-dependent (TD) Lower-Risk (LR) Myelodysplastic Syndrome (MDS) patients and can be administered either in the frontline or after erythropoietin failure. Our aim is to report its efficacy and safety in this study population in the everyday clin...

Precise repair of the pathogenic mutation in hematopoietic stem cells (HSCs) represents an ideal cure for patients with sickle cell disease (SCD). Here, we demonstrate correction of the SCD phenotype by converting the sickle mutation codon (GTG) into a benign G-Makassar variant (GCG) using in vivo base editing in HSCs. We show successful production...

Introduction: Bystander hemolysis occurs when antigen-negative red blood cells (RBCs) are lysed by the complement system. Many clinical entities including passenger lymphocyte syndrome, hyperhemolysis following blood transfusion, and paroxysmal nocturnal hemoglobinuria are complicated by bystander hemolysis. Areas covered: The review provides da...

The first identification of a novel α1-Globin variant, Hb Ormylia in 11 Greeks originating from a small village, Ormylia, Chalkidiki, Greece is reported. The new genetic variant leads to the production of a hemoglobin variant that can be identified and quantified by High-Performance Liquid Chromatography. Capillary and classic electrophoresis were...

Introduction: Venlafaxine (VEN) is a selective norepinephrine reuptake inhibitor (SNRI) that mainly helps treat major depressive disorder and anxiety and panic disorders. It works by inhibiting the reuptake of serotonin (5-hydroxytryptamine, 5-HT) and noradrenaline (NA) by presynaptic neurons. Additionally, VEN administration has been linked with...

Preeclampsia is a progressive multi-systemic disorder characterized by proteinuria, critical organ damage, and new-onset hypertension. It can be further complicated by HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), resulting in critical liver or renal damage, disseminated coagulation, and grand mal seizures. This study aimed to...

The assessment of health-related quality of life (HRQoL) in thalassemia offers a holistic approach to the disease and facilitates better communication between physicians and patients. This study aimed to evaluate the HRQoL of transfusion-dependent thalassemia (TDT) patients in Greece. This was a multicentric, cross-sectional study conducted in 2017...

Abstract Beta thalassemia is the most common genetic blood disorder, characterized by reduced production or complete absence of beta-globin chains. The combination of systematic red blood cell transfusion and iron chelation therapy is the most readily available supportive treatment and one that has considerably prolonged the survival of thalassemia...

The assessment of Health-Related Quality of Life (HRQoL) in Thalassemia offers a holistic approach to the disease and facilitates better communication between physicians and patients. This study aimed to evaluate the HRQoL of Transfusion-Dependent Thalassemia (TDT) patients in Greece. This was a multicentre, cross-sectional study conducted in 2017,...

Hemoglobinopathies, including β-thalassemia and sickle cell disease (SCD), are common genetic blood disorders. Endocrine disorders are frequent manifestations of organ damage observed mainly in patients with β-thalassemia and rarely in SCD. Iron overload, oxidative stress-induced cellular damage, chronic anemia, and HCV infection contribute to the...

Sickle cell disease (SCD) is one of the most common monogenic disorders worldwide and liver complications are common in this group of patients. Our study aims to highlight the prevalence of chronic liver complications and the main predisposing factors for advanced liver fibrosis in SCD patients. For this purpose, 219 patients from eight Thalassemia...

Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes (POEMS) is a rare paraneoplastic syndrome, and its diagnosis is based on a series of clinical and laboratory findings. We present the case of a 46-year-old woman who was previously diagnosed with essential thrombocythemia. The patient complained about dyspnea on exertion...

A prognostic scoring system that can differentiate β-thalassemia patients based on mortality risk is lacking. We analysed data from 3145 β-thalassemia patients followed through a retrospective cohort design for the outcome of death. An a priori list of prognostic variables was collected. β Coefficients from a multivariate cox regression model were...

Healthcare systems around the globe are still facing the evolving threat of the coronavavirus-19 (COVID-19) pandemic. Hemoglobinopathies include a group of genetic disorders, with the two main entities being thalassemias and sickle cell disease. Due to their immunocompromised status, such patients have been protected as extremely vulnerable to COVI...

Individuals with beta-thalassemia or Sickle Cell Disease and hereditary persistence of fetal hemoglobin (HPFH) possessing 30% HbF appear to be symptom-free. Here, we used a non-integrating HDAd5/35++ vector expressing a highly efficient and accurate version of an adenine base editor (ABE8e) to install, in vivo, a -113A>G HPFH mutation in the gamma-...

Preeclampsia (PE) constitutes one of the principal reasons for maternal and perinatal morbidity and mortality worldwide. The circumstance typically implicates formerly healthful normotensive women, after 20 weeks of gestation, typically withinside the third trimester, without regarded threat elements or past deliveries. PE can be further complicate...

In this work, we aimed to establish subgroups of clinical severity in a global cohort of β-thalassemia through unsupervised random forest (RF) clustering. We used a large global dataset of 7910 β-thalassemia patients and evaluated 19 indicators of phenotype severity (IPhS) to determine their contribution and relatedness in grouping β-thalassemia pa...

Vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are essential weapons to control the spread of the coronavirus disease-19 (COVID-19) pandemic and protect immunocompromised patients. With a greater susceptibility to infection, sickle cell disease (SCD) patients are considered as “high risk” patients during the current C...

Chronic lymphocytic leukemia (CLL) is a type of malignant lymphoproliferative disorder characterized by a rapid and uncontrolled increase in lymphoid cells, mostly monoclonal B-cells (B-CLL). Patients with CLL may present cutaneous lesions that can be classified as either "specific" or "non-specific." In CLL patients, specific skin eruptions arise...

In β‐thalassaemia, the severity of inherited β‐globin gene mutations determines the severity of the clinical phenotype at presentation and subsequent transfusion requirements. However, data on associated long‐term outcomes remain limited. We analysed data from 2109 β‐thalassaemia patients with available genotypes in a global database. Genotype seve...

The potential clinical applications of the powerful in vitro transcribed (IVT)-mRNAs, to restore defective protein functions, strongly depend on their successful intracellular delivery and transient translation through the development of safe and efficient delivery platforms. In this study, an innovative (international patent-pending) methodology w...

Sickle cell disease includes a group of congenital hemolytic anemias, all characterized by the predominance of Hb S (HBB: c.20A>T). The population movement due to economic migration or escape from conflict zones will further affect the health systems of countries by either increasing the number of patients or forcing countries to create care units...

Background: α-Thalassemia, a congenital hemoglobinopathy, is characterized by deficiency and/or reduced levels of α-globin chains in serious forms of α-thalassemia (HbH disease/Hb Bart's). This research work deals with a Protein Replacement Therapy approach in order to manage α-thalassemia manifestations, caused by the excess of β-globin chain int...

Sickle cell disease (SCD) is a widely spread inherited hemoglobinopathy that includes a group of congenital hemolytic anemias, all characterized by the predominance of sickle hemoglobin (HbS). Its features are anemia, predisposal to bacterial infections and complications such as vaso-occlusive crisis (VOC) or delayed hemolytic transfusion reaction...

ADAMTS13 (A Disintegrin and Metalloprotease with ThromboSpondin type 1 motifs) activity is a key tool in differential diagnosis of thrombotic microangiopathies (TMAs). Due to the lack of availability of ADAMTS13 testing, PLASMIC/PLASIC scores have been suggested to predict ADAMTS13 deficiency. The importance of differentiating TTP from other comple...

Funding Acknowledgements Type of funding sources: None. Aims.The data on echocardiography, cardiac magnetic resonance (CMR) and ferritin predicting long-term survival in haemoglobinopathies are scarce. The current study evaluated the association of these parameters with the 10-years survival in haemoglobinopathies. Methods.This prospective study in...

Aims The current study evaluated the association of echocardiography, cardiac magnetic resonance (CMR) and ferritin data with the 10-years survival in thalassaemia patients. Methods Demographics, ferritin, echocardiography and CMR parameters of stable consecutive thalassaemia patients were prospectively collected. Results In total, 75 patients (m...

Sickle cell disease (SCD) is a common inherited clinical syndrome, characterized by the presence of hemoglobin S. Anemia, susceptibility to infections and episodes of vaso-occlusive crisis (VOC) are among its features. Since SCD complications (VOC or delayed hemolytic transfusion reaction/DHTR) lead to significant morbidity and mortality, a number...

Patients with beta-thalassemia major (β-ΤΜ) may develop cardiac arrhythmias through a multifactorial mechanism. The current study evaluated the association of cardiac structure and function on echocardiography with atrial ectopic burden on 24-hour tape recording in β-ΤΜ patients. This prospective study included consecutive β-ΤΜ patients. Demographi...

Mantle cell lymphomas account for about 2 to 10% of non-Hodgkin B-cell lymphomas. Despite the cellular maturity of B-cell lymphomas, the disease is aggressive in the majority of cases and its course is unpredictable. The clinical presentation is variable, and multiple nodal and extranodal manifestations have been described. Cutaneous infiltration i...

The rare Hb Antibes-Juan-Les-Pins (HBB: c.349_350insGTGTGCTGGCCC) was first reported in France. Hb Antibes-Juan-Les-Pins seems to be an innocuous variant and few published data are available. Heterozygous carriers have mild clinical or hematological findings. The abnormal hemoglobin (Hb) is detected by high performance liquid chromatography (HPLC)...

Necrobiosis lipoidica (NL) is a rare granulomatous disease that predominantly affects middle-aged women and is often associated with diabetes mellitus (DM), rheumatoid arthritis (RA) and other metabolic disorders. Thalassemias are the most common hereditary hemoglobin (Hb) disorders worldwide. A few studies investigated dermatologic problems that c...

Beta-thalassaemia is a genetic disease with different clinical aspects, which can lead to heart failure with a multifactorial mechanism. Over the last years, growing interest has been reported for biomarkers which may help in the diagnosis, staging and prognosis of heart disease at an early stage, in patients with beta-thalassaemia. This review wil...

Background Patients with transfusion-dependent β-thalassemia need regular red-cell transfusions. Luspatercept, a recombinant fusion protein that binds to select transforming growth factor β superfamily ligands, may enhance erythroid maturation and reduce the transfusion burden (the total number of red-cell units transfused) in such patients. Metho...

Greece is a country of ~11 million people, where hemoglobinopathies are the most common genetic diseases. The reported data describe the clinical phenotype of cases with coinheritance of triplicated α-globin (anti-α3.7 kb) and β-globin gene mutations in Northern Greece, that were referred within the last 10 years, in The Adult Thalassemia Unit of "...

Background: Hemoglobin Adana is a non-deletional alpha chain mutation, particularly rare, and to date, it is mostly described in coinheritance to other a-thalassemia mutations. Such interactions result in various phenotypes depending on the underlying genotype. Since routine hematological tests do not detect the aforementioned unstable variant, it...

Introduction: ADAMTS13 (A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats) activity remains a key tool in differential diagnosis of thrombotic microangiopathies (TMAs). However, ADAMTS13 testing is not readily available in many hospitals. Recently, PLASMIC and PLASIC scores have been developed to facilitate rapid recognition of T...

Background: Sickle cell disease (SCD) is an autosomal recessive disorder caused by a point mutation in the β-globin chain of hemoglobin that forms hemoglobin S. It is clinically characterized by complicated episodes of veno-occlusive crises (VOC), emergency room (ER) visits and uncomplicated inpatient admissions. Aim: We investigated the clinical c...

Aim: β-Type hemoglobinopathies are characterized by vast phenotypic diversity as far as disease severity is concerned, while differences have also been observed in hydroxyurea (HU) treatment efficacy. These differences are partly attributed to the residual expression of fetal hemoglobin (HbF) in adulthood. The Krüppel-like family of transcription f...

Background As life expectancy increases, elderly patients (pts) with immune thrombocytopenia (ITP) are increasingly being encountered in everyday practice. However, the features of ITP in older adults have not been fully elucidated thus far. Aims To describe real world characteristics at diagnosis and evaluate disease outcome in a group of elderly...

Background Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm, for which current WHO diagnostic criteria include leukocytosis of ≥25 × 10 ⁹ /L of which ≥80% are neutrophils, with <10% circulating neutrophil precursors with blasts rarely observed. In addition, there is no dysplasia, nor clinical or molecular criteria for other...

Hemoglobinopathies exhibit a remarkable phenotypic diversity in terms of disease severity, while individual genetic background plays a key role in differential response to drug treatment. In the last decade, genomic variants in genes located within, as well as outside the human β-globin cluster have been shown to be significantly associated with Hb...

Objectives: Beta-thalassemias are a group of recessively autosomal inherited disorders of hemoglobin synthesis, which, due to mutations of the beta-globin gene, lead to various degrees of defective beta-chain production, an imbalance in alpha/beta-globin chain synthesis, ineffective erythropoiesis, and anemia. Improved survival in thalassemic patie...

Delayed hemolytic transfusion reaction (DHTR) is a life-threatening complication in patients with sickle cell disease, characterized by difficulties in diagnosis and management. Certain reports have suggested successful salvage treatment with the terminal complement inhibitor, eculizumab. We here report evidence of complement activation and success...

National registries constitute an invaluable source of information and contribute to the improvement of hemoglobinopathy management. Herein, we present the second updated report of the National Registry for Haemoglobinopathies in Greece (NRHG) and critically discuss the time trends in demographics, affected births, and causes of mortality. Thirty-e...

INTRODUCTION: The incidence of extramedullary hematopoiesis (EH) in patients with thalassemia intermedia (TI) may reach up to 20%, because they are not transfused regularly, in contrast to poly-transfused β-thalassemia patients, where the incidence is significantly lower and varies from 1-5%. Transfusion independence in TI increases the incidence o...

Background: Effective iron chelation and other supportive treatment have a substantial impact on survival prolongation of thalassemic patients, who may reach late adulthood, and therefore, may manifest various neoplastic disorders. However, no systemic analysis of the prevalence of neoplastic disorders in this patient population has been performed....

Introduction: β-thalassemia is an inherited hemoglobinopathy associated with an erythroid maturation defect characterized by ineffective erythropoiesis and impaired RBC maturation. Luspatercept is a first-in-class erythroid maturation agent under development to treat patients with β-thalassemia. Luspatercept binds to select TGFβ superfamily ligands...

Protein Replacement Therapy (PRT) has been applied to treat severe monogenetic/metabolic disorders, characterized by a protein deficiency. In disorders, where an intracellular protein is missing, PRT is not easily feasible due to the inability of proteins to cross the cell membrane. Instead, gene therapy has been applied, although still with limite...

Background: We aimed to clarify the emerging epigenetic landscape in a group of genes classified as "modifier genes" of the β-type globin genes (HBB cluster), known to operate in trans to accomplish the two natural developmental switches in globin expression, from embryonic to fetal during the first trimester of conception and from fetal to adult...

The rare point mutation Cap +1570 (T>C) (HBB: c*96T>C) has been reported in families of Czech, Greek, Turkish and Italian origin. The mutation contributes to a reduction of the β-globin chain synthesis, and in heterozygous carriers, it causes a silent phenotype, while in compound heterozygosity with severe β-thalassemia (β-thal) mutations, it leads...

Background: Lenalidomide (Len) has been approved for anemic patients with Del(5)q syndrome and induces high response rates. However, patients exhibiting Del(5)q abnormality, but not classified as Del(5)q syndrome or presenting additional abnormalities over Del(5)q are not usually treated with lenalidomide and the experience on these patient groups...

Immune thrombocytopenia (ITP) is a heterogeneous autoimmune disorder mediated by platelet antibodies thought to accelerate platelet destruction while inhibiting also their production. ITP may be primary (with no apparent underling etiology) or secondary to another disorder. ITP features in the general Greek population have not been properly investi...

Background. To investigate the early and late antiadhesive effect and any changes of fibrin matrix regulation enzymes on rat peritoneum, after local administration of bevacizumab. Methods. Rats were subjected to cecal abrasion. Bevacizumab (5 mg/kg) against placebo was given intraperitoneally. On the 2nd, 14th, and 28th postoperative days adhesions...