Beta thalassemia major: the invaluable role of electrocardiography and echocardiography

The submitted manuscript is a “Letter to the Editor” with reference to the “Evaluation of electrocardiography, echocardiography and cardiac T2* for cardiac complications in beta thalassemia major” by Fadime Ersoy Dursun et al. (The International Journal of Cardiovascular Imaging. https://doi.org/10.1007/s10554-021-02421-x)

Transient elastography (TE) is a useful tool for assessing the response of liver iron chelation in sickle cell disease patients

Sickle cell disease patients often need regular blood transfusions to improve both the quality of life and survival from the veno-occlusive complications of the disease. Deferasirox, a convenient long acting oral agent, has recently been introduced in clinical practice with promising efficacy. This study aims to evaluate the association of liver stiffness and possible fibrosis with iron deposition and confirm the use of elastography as a validated test of responding to chelation with low cost and easy access. 15 patients with sickle cell disease and systemic or occasional transfusions were evaluated with MRI, transient elastography and biochemistry, for liver iron(LIC) and liver stiffness(LSM) before onset and one year after taking Deferasirox. All patients completed the study. Our results showed improvement in hepatic iron and hepatic stiffness after chelation therapy; Furthermore ALT, AST, LDH and ferritin levels have improved after 12 months of therapy with deferasirox. During the study no serious adverse events were encountered indicating the safety of the drug. Transient liver elastography findings correlate with serum ferritin and LIC in patients with sickle cell disease and it is a useful tool for assessing the response of liver iron chelation therapy. © 2018 Slovensko Kemijsko Drustvo. All Rights Reserved

Severity of heart failure and health-related quality of life in beta-thalassemia patients: a cross-sectional study

Cardiovascular complications account for a substantial increase in morbidity and mortality in beta-thalassemia patients. Many patients have structural heart disease, and some of them present with symptomatic heart failure (HF). Quality of life (QOL) of beta-thalassemia patients is lower than that of the general population. The aim of our study was to explore the relationship between HF stages and QOL in beta-thalassemia patients. Seventy-three consecutive adult beta-thalassemia patients took part in this cross-sectional study. Stages of HF, classified with increasing severity as A, B, and C, were determined based on ACC/AHA guidelines. QOL was assessed using the SF-36 questionnaire. Fifteen patients had stage C HF, twenty-eight had stage B HF, and the remaining were considered stage A patients, as beta thalassemia is a predisposing factor for HF. All QOL domains except for bodily pain were significantly lower in stage C patients than in stage A patients. Stage C patients had significantly lower QOL scores for physical functioning, role physical, and social functioning domains than stage B patients. Stage B patients’ QOL differed from stage A patients only in the vitality domain. In the multiple regression analysis which took several demographic and clinical factors into account, stage of HF was the most important factor associated with QOL, and negatively and significantly related to five QOL domains, namely physical functioning, role physical, general health, social functioning, and vitality. In conclusion, QOL is negatively affected by the severity of heart failure in beta-thalassemia patients. © 2020, Springer-Verlag GmbH Germany, part of Springer Nature

Pregnancy in patients with hemoglobinopathies: 30-year results of a Greek Thalassemia and Sickle Cell Department

The aim of the current study is the longitudinal epidemiological study of pregnancies, their outcome and the changes in their treatment, in patients with hemoglobinopathies, during 30 years at a Thalassemia and Sickle Cell Department. The data of a total of 47 pregnancies of 40 women with hemoglobinopathies monitored in the Thalassemia and Sickle Cell Department of Hippokrateio General Hospital of Athens were retrospectively collected. The data were divided and evaluated in two time periods, the first before 2000 and the second between 2000 and 2017. There were four miscarriages and 43 completed pregnancies. The mean pregnancy duration was 34.92 weeks. Thalassemia major and thalassemia intermedia patients had higher percentages of in vitro fertilization (IVF) pregnancies and IVF attempts, with the majority of IVF attempts and pregnancies in the time period after 2000. During the period 2000-2017, more women received transfusions and iron chelation therapy both before and during pregnancy compared to the period before 2000. During the period 2000-2017, three women presented hemorrhagic complications. Placental abruption occurred in two cases, while one woman suffered a stroke. Six women had liver disease and two cardiac problems. The rate of pregnancies in women with hemoglobinopathies has increased after the year 2000 due to the increased use of IVF technique. Pregnancy planning, close collaboration between gynecologists and hematologists and appropriate pregnancy monitoring are essential for an optimal pregnancy outcome. © 2020 2020 Walter de Gruyter GmbH, Berlin/Boston

Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor.

Purine nucleoside phosphorylase (PNP) is an enzyme active in the purine salvage pathway. PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe combined immunodeficiency (SCID) and in two thirds of cases also to neurological effects such as developmental delay, ataxia, and motor impairment.PNP deficiency has a poor outcome, and the only curative treatment is allogenic hematopoietic stem cell transplantation (HSCT). We present the first Swedish patient with PNP deficiency with novel mutations in the PNP gene and the immunological results of the HSCT and evaluate the impact of HSCT on the neurological symptoms. The patient presented early in life with neurological symptoms and suffered later from repeated serious respiratory tract infections. Biochemical tests showed severe reduction in PNP activity (1% residual activity). Genetic testing revealed two new mutations in the PNP gene: c.729C>G (p.Asn243Lys) and c.746A>C (p.Tyr249Cys). HSCT was performed with an unrelated donor, resulting in prompt and sustained engraftment and complete donor chimerism. There was no further aggravation of the patient's neurological symptoms at 21 months post HSCT, and appropriate developmental milestones were achieved. HSCT is curative for the immunological defect caused by PNP deficiency, and our case strengthens earlier reports that HSCT is effective as a treatment even for neurological symptoms in PNP deficiency