DIETARY INTAKE AND SUN EXPOSURE RELATED TO VITAMIN D CONCENTRATION IN THALASSEMIA PATIENTS: A LITERATURE REVIEW

Vitamin D has an important role in calcium homeostasis and bone minerals during rapid growth periods. Several studies have shown that deficiency of vitamin D occurs in thalassemia patient. The study used literature review to determine relation of dietary intake and sun exposure with vitamin D concentration in thalassemia patiens in 29 literatures. Those literatures were taken from books and articles published from 2010 to 2019 with the keywords “thalassemia”, “dietary intake”, “sun exposure” and “vitamin D” using database in Pubmed, Google Scholar and Medline. The results of 29 literatures showed that vitamin D deficiency is caused by reduced dietary intake and impaired vitamin D hydroxylation in the liver due to hemochromatosis resulting in high serum ferritin. Source of vitamin D comes from endogenous synthesis with sunlight exposure and little dietary source of vitamin D2 and vitamin D3. Another food intake can also affect serum vitamin D concentration, mainly fat and protein intake. Vitamin D is fat soluble vitamin, it can be stored in the fat for later metabolized in the liver. Protein is required to transport vitamin D to blood circulation, enzyme formation and vitamin D receptor (VDR). Thalassemia patients need to increase of macro and micronutrients requirement. Low Hb concentration causes fatigue, tired easily and decreased appetite. A lot of research on thalassemia children found that intake of energy and protein were lower than recommended and lack of sun exposure. These conditions will affect to vitamin D concentration. A comprehensive understanding in the relationship of dietary intake and sun exposure to vitamin D concentration in thalassemia patients is explained in this mini review. Maintaining normal vitamin D concentration through adequate dietary intake and sun exposure are very important to optimize growth in thalassemia patients.

Genetic Mutation of Hb E/beta Thalassemia Patient in Bangladesh and Its Relation With Clinical Severity

Background: Hemoglobin E/β-thalassemia is a common inherited hemoglobin disorder among South Asian countries. The phenotypically diverse presentation of the disease is often attributed to coinheritance of β-globin (HBB) gene mutations. The current study described the phenotype and genetic basis of Hb E/β-thalassemia patients and assessed its relation with clinical severity.Methods: A total of 32 patients were included in this cross-sectional study. Cases were confirmed by using capillary hemoglobin electrophoresis or high-performance liquid chromatography. Those with positive findings were further analyzed with clinical information and ancestral data either from the interview or medical records. Data collection was confined to May 2019 and July 2020. Gene sequencing was performed using Sanger’s sequencing method for mutational analysis, and Mahidol scoring was used to grade clinical severity.Result: A total of 13 heterozygous mutations were identified in the HBB gene. Of all, IVS-1-5 (G>C) (n=17, 53.1%) was the most common, and codon 30 (G>C) (n=4, 12.5%) was the second most common mutations. According to the Mahidol scoring system, 37.5% (n=12) were classified as phenotypically mild, 43.8% (n=14) as moderate and 18.8% (n=6) as severe. The IVS-1-5(G>C) mutation was found to be frequently associated with severe disease and showed no mild form.Conclusion: The present study described the clinical severity and its association with genetic mutations in hemoglobin E/β-thalassemia patients. This finding could guide individually tailored management strategies for this particular group of patients.

MANAGEMENT OF GESTASIONAL DIABETES MELLITUS IN A BETA MAJOR THALASSEMIA PATIENT

Gestational diabetes mellitus (GDM) is a hyperglycemic condition that is first discovered during pregnancy. GDM is a high-risk condition during pregnancy, for both mother and fetus. GDM affects about 1–14% of pregnancies. In the last 20 years, the incidence of gestational diabetes has been increasing. High iron load and disorders of iron metabolism have been associated with glucose metabolism. The beta thalassemias are a group of hereditary hemoglobinopathies. Treatment for beta thalassemias patients is transfusion, but intensive transfusion can aggravate iron overload in patients. In this study, a case of GDM in a pregnant woman with beta-thalassemia was reported.

An urgent need for improving thalassemia care due to the wide gap in current real-life practice and clinical practice guidelines

Based on Thalassemia International Federation clinical practice guidelines (CPG) for non-transfusion dependent and transfusion dependent thalassemia, several measures should be routinely implemented such as monitoring and surveillance of thalassemia related complications for early detection and proper clinical management. To evaluate the prevalence and the performance of routine surveillance for thalassemia related complications during 2 periods; before and after published CPGs (2012–2014 vs 2015–2017), data from 524 adult thalassemia patients attended at Siriraj hospital were compared among different treating physician groups; thalassemia, private hematology, and internal medicine clinics. Three most common complications were osteopenia/osteoporosis (69.8%), gallstones (67.6%) and abnormal vitamin D level (67.6%). Iron overload has been widely evaluated (93.1%) followed by liver function test (82.3%). However, the rate of evaluation for other complications were significantly reduced and < 25% of patients were evaluated in several complications. Comparing among clinics, the surveillance rate has increased significantly for several endocrine complications only in patients treated at thalassemia clinic but not in others. This study was the first study that evaluated real-world practical management of thalassemia patient in terms of complication surveillance. This different clinical practice has called for an immediate policy change to improve and standardize a care for thalassemia patients in Thailand.

Evaluating the Effect of Peer Education on the Hope of Patients with Thalassemia Major

Objective: Thalassemia major (TM) is one of the most common chronic genetic disorders in today’s world. The psychological impacts of this disease can affect patients’ hopes. Considering the positive role and importance of suitable educational methods, the aim of this study was to determine the effect of peer education on the hope of patients with TM. Methods: This was a quasi-experimental single-group study performed on 50 patients with TM undergoing treatment in Zabol in 2020. Patients were recruited by the continuous sampling method. Data collection tools included a demographic questionnaire and the Snyder’s Hope Scale. Patients were educated in groups by eligible peers in 2 sessions each for 60 minutes. Hope was measured before and one month after the educational sessions. Data was analyzed by SPSS software version 20. Results: The mean age of the participants was 24.5 (4.24) years. At the pretest, the mean score of total hope was 26.72 ± 5.82, which increased to 28.21 ± 5.11 at the posttest (P = 0.028). The mean hope score of patients in the pathway thinking dimension (P = 0.01), significantly increased after peer education. Despite an increase in the score of the agency thinking dimension, this was not statistically significant (P = 0.297). Conclusion: The findings of this study indicated that peer education can improve hope in patients with TM. So, considering that this educational method is easy, cheap, and experienced-based, it can be used in combination with other health care measures to improve TM patients’ hope. Keywords: Peer Group; Hope; Thalassemia Major; Beta-Thalassemia; Patient Education.

Increased non-typhoidal Salmonella hospitalizations in transfusion-naïve thalassemia children: a nationwide population-based cohort study

Introduction Although non-typhoidal Salmonella (NTS) infection usually causes self-limited enterocolitis, several risk factors have been found to predispose individuals to more severe NTS infections. However, few studies have discussed the association between NTS infection and pediatric thalassemia populations. Material and methods A nationwide population-based retrospective cohort study was conducted using medical records of the selected children from the Taiwan National Health Insurance Research Database. Immunocompromised individuals or patients with a history of transfusion or splenectomy were excluded. One thalassemia patient was matched with four non-thalassemia patients based on their year of birth, sex, and urbanization level. Results In this cohort, 912 patients with thalassemia and 3648 comparison cohort were analyzed. The mean age of NTS hospitalization was 2.0 ± 1.4 in thalassemia cohort and 2.6 ± 2.4 in non-thalassemia cohort. Transfusion-naïve thalassemia children were proved to have a higher rate of NTS hospitalization (6.90 vs 4.11 per 1000 person-year; p = 0.0004) than the non-thalassemia cohort, with an adjusted hazard ratio (HR) of 1.68 (95% confidence interval [CI] = 1.26–2.24). Conclusion Our research shows that transfusion-naïve thalassemia is associated with an increased risk of NTS hospitalization. Further prospective study comparing the incidence and severity of NTS infection among children with and without thalassemia is needed. Impact Pediatric transfusion-naïve thalassemia patients have an 1.68-fold increased risk for hospitalization due to non-typhoidal Salmonella (NTS) infection. This is the first nationwide population-based cohort study based on an extremely large database that shows pediatric transfusion-naïve thalassemia patients have an increased risk for NTS hospitalizations. Besides the previously known risk factors such as extremes of age, sickle cell disease, or immunosuppressing conditions, clinicians must also take thalassemia as a possible risk factor for more severe NTS disease.

Posttransfusion hyperhemolysis syndrome in beta thalassemia major: Postulation of various mechanisms

Hyperhemolysis syndrome (HS) should be considered in a multiply transfused thalassemia patient. HS in this patient was attributed to a combination of factors including multiple transfusions, presence of anti-Cw, macrophage hyperactivity, hypersplenism and suppression of erythropoiesis.

Treatment of HCV Genotype-1a Infection with Sofosbuvir/ Daclatasvir in a Child Suffering from Thalassemia-Major

Background: Beta thalassemia is the most common genetically transmitted disorder throughout the world. The life of a thalassemia patient depends on continuous blood transfusions, that can lead to various blood-borne viral infections mainly human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV) infections. Nevertheless, HCV infection is the most prevalent among blood transfusion-related blood-borne infections. Co-occurrence of thalassemia major with hepatic fibrosis,severe anemia, and iron over-load complicates HCV treatment. Additionally, treatment of HCV infection generally results in the manifestation of several drug-associated side effects, and the burden of continuous blood transfusions makes the condition worse. Aim: Efficacy and safety of Sofosbuvir/ Daclatasvir in a HCV infected child suffering from thalassemia major. Method: The patient was treated with direct-acting antiviral drugs including Sofosbuvir/ Daclatasvir for twenty weeks. The complete blood count (CBC) and Liver function test (LFT) data were obtained during the whole treatment. The efficacy and safety of treatment was evaluated by CBC and LFT values. The whole data was evaluated by Microsoft excel 2013. Result: No significant side effect was observed during the whole treatment. The hemoglobin (Hb) level remained normal and did not require additional blood transfusion. The end of therapy response (ETR) was achieved after twenty weeks of treatment. Conclusion: Sofosbuvir/ Daclatasvir were found effective in the thalassemia patient. There was no need for dose adjustment. The sustained viral response (SVR24) was achieved.