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Venous thromboembolism (VTE) is a life-threatening complication, especially in case of recurrence. The appropriate duration of anticoagulant treatment following the first event is crucial. Risk factors that increase the risk of recurrence of VTE are many, and include medications, kidney disease, renal transplantation (RT), and a diagnosis of sickle cell disease (SCD). There are currently no guidelines that define the duration of anticoagulant therapy after the first event in a patient with RT. We report a case of recurring episodes of VTE after RT in a SCD patient. Our case suggests that the use of a long-term anticoagulant treatment may be recommended in patients with SCD and RT after the first event of VTE.

Background: Haemophagocytic lymphohistiocytosis (HLH) is a rare and potentially life-threatening systemic hyperinflammatory disease, which can have several aetiologies. Clinical case: a 48-year-old woman affected by a transfusion-dependent β-thalassemia was hospitalized in our haematology unit presenting with intermittent fever, haepatosplenomegaly and pancytopenia, which developed a few days after the booster dose of anti-SARS-CoV-2 mRNA vaccine. The investigations performed during hospitalization led to a diagnosis of HLH and steroid therapy where IV dexamethasone was initiated and provided benefits. Conclusions: the severity of HLH mandates early treatment, but the management of patients with post-vaccine HLH is still challenging and requires further study. No cases of HLH in patients with thalassemia were previously described.

Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

In patients with β-thalassemia and sickle cell syndromes there is an important secondary iron overload due to regular blood transfusions and increased duodenal iron absorption. As in genetic hemochromatosis, also the secondary iron storage leads to tissue injury that involves all the major organs: liver, heart, kidney, endocrine glands. At present, in patients with β-thalassemia and sickle cell syndrome, iron chelation therapy is widely used for the treatment of secondary hemochromatosis, to limit the toxic effects of iron overload. In order to maintain the correct homeostasis, several genes are involved in the metabolic pathways of iron, including HFE, FPN (ferroportin) and TF (transferrin). In this study we analyzed the genes HFE, FPN and TF, to assess their possible effects on response to therapy with deferasirox and deferiprone, either as monotherapy or in combination therapy in a cohort of patients with β-thalassemia and sickle cell syndromes.

Nonsense-mediated mRNA decay (NMD) is a surveillance system to prevent the synthesis of non-functional proteins. In β-thalassemia, NMD may have a role in clinical outcome. An example of premature translation stop codons appearing for the first time is the β-globin cd39 mutation; when homozygous, this results in a severe phenotype. The aim of this study was to determine whether the homozygous nonsense cd39 may have a milder phenotype in comparison with IVS1,nt110/cd39 genotype. Genotypes have been identified from a cohort of 568 patients affected by β-thalassemia. These genotypes were compared with those found in 577 affected fetuses detected among 2292 prenatal diagnoses. The nine most common genotypes, each with an incidence rate of 1.5% or over, and together accounting for 80% of genotype frequencies, underwent statistical analysis. Genotype prevalence was calculated within the overall group. Results are expressed as proportions with 95% confidence intervals; P≤0.05 was considered statistically significant. A binomial distribution was assumed for each group; z-tests were used to compare genotype frequencies observed in the patient group with frequencies in the affected fetus group. In the absence of selecting factors, prevalence of these two genotypes was compared between a cohort of 568 β-thalassemia patients (PTS) and 577 affected fetuses (FOET) detected during the same period. IVS1,nt110/cd39 was significantly more prevalent in FOET than PTS (P 是一种预防非功能性蛋白质合成的监控系统。在β地中海贫血中，NMD可能对临床结果有影响。第一次出现的过早终止密码子（PTC）为β珠蛋白cd39突变；若为纯合子，则会导致严重的表型。本研究旨在确定与IVS1,nt110/cd39基因型相比，纯合子无义cd39能否有更轻度的表型。目前已确定568名β地中海贫血患者的基因型，并与从2292个产前诊断中检测出的577名地中海贫血胎儿的基因型相比较。对9个最常见基因型进行统计分析，每个基因型的发生率均为1.5%或以上，共占基因型频率的80%。在整个组中计算基因型分布情况，其结果以95%置信区间表示；若P≤0.05，则具有统计意义。各组均假定成一个二项分布；Z测试适用于比较患者组的基因型频率和地中海贫血胎儿的基因型频率。 若没有选择因子，则比较568名β地中海贫血患者（PTS）和同一时期所检测到的577个地中海贫血胎儿（FOET）这两组基因型的发生率。IVS1,nt110/cd39在FOET中的发生率明显高于PTS（P

We report a retrospective analysis carried out on 23,485 subjects submitted to a screening program from 2000 to 2006. Of these subjects, 3,934 had borderline HbA2 values from 3.1 to 3.9%; 410 samples, analyzed previously using PCR methods and sequencing because all of these were partners of a carrier of classical β-thalassemia, were selected for statistical analysis. Of 410 subjects, 94 (22.9%) were positive for a molecular defect in the β-, δ- or α-globin genes. The most prevalent molecular defects were β IVS1 nt 6 (HBB c.92+6T C), co-inheritance of severe β thalassemia and δ mutations, β-promoter mutations and triplication of α genes were detected; α-thalassemia and Hb-variants were also evident. Borderline HbA2 is not a rare event in a population with a high prevalence of β-thalassemia carriers. These data support the necessity to investigate these cases at a molecular level, particularly if the partner is a carrier of β-thalassemia.

The research biobank "Anna Maria Ferraro Cutino" AOR-villa Sofia-Cervello, started in 2010 by a grant of the Sicilian Department of Health. Within the biobank are collected, characterized, stored and distributed amniotic fluids (AF) from amniocentesis performed for maternal age. Patients choose to donate to the biobank the first 3 ml of AF that cannot be used for prenatal diagnosis. AF and donor data are anonymously archived in a database, according to the standard ethical principles. Collateral biobanks are present to collect, storage and manage donor sera and DNA samples, to perform microbiological and genetic tests necessary for the unit release. [ABSTRACT FROM AUTHOR]