Pulmonary Artery Hypertension in Transfusion-Dependent Thalassemia.

OBJECTIVE: Patients with transfusion-dependent thalassemia (TDT) are at risk of developing pulmonary artery hypertension (PAH) due to chronic hemolysis, iron overload, hypercoagulability and splenectomy. The objective of the study was to assess the prevalence and predictors of PAH in patients with TDT. METHODS: Patients aged 6-18 years with TDT were included. 2D-echocardiography was done to measure the pulmonary artery systolic pressure (PASP) and left ventricular ejection fraction (LVEF). T2* MRI was done to evaluate cardiac iron overload. N-terminal-pro brain natriuretic peptide (NT-pro BNP) level was also assessed. RESULTS: Out of 61 participants, PAH was noted in 19 (31.6%). Mean (SD) age of the patients with PAH and without PAH was 12.2 (3.8) and 9.6 (3.5) years, respectively (P = 0.016). Five of 19 patients with PAH (26.3%) had undergone splenectomy as against 5 of 41 patients without PAH (12.2%) (P = 0.17). Years since splenectomy was higher in the PAH group. Mean (SD) NT-Pro BNP levels were also higher in patients with PAH [63.80 (25.89) vs 41.97 (23.95), P = 0.01]. Significantly higher number of patients with PAH had cardiac T2* value of < 10 ms (P = 0.04). Age (OR 4.11; 95% CI 1.46-8.77), years since splenectomy (OR 3.24; 95% CI 1.30-7.86), NT-Pro BNP levels (OR 4.43; 95% CI 2.14-9.61) and cardiac T2* MRI (OR 2.46; 95% CI 2.18-6.90) values were predictors of PAH in patients with TDT. CONCLUSION: PAH was observed in 31.6% of patients, with older age and years since splenectomy being important risk factors. NT-Pro BNP can be used as screening test for detecting PAH.

Two risk factors for hypozincemia in diabetic ß-thalassemia patients: Hepatitis C and deferasirox.

BACKGROUND AND AIM: Hypozincemia is a prevalent adverse consequence in diabetes mellitus (DM) and ß-Thalassemia patients. We aimed to evaluate the level of serum zinc in ß-thalassemia patients with DM and a risk assessment for hypozincemia. METHODS: The study population included transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT) with overt DM (fasting plasma glucose (FPG) ≥126 mg/dL, and/or 2-h plasma glucose≥200 mg/dL). Serum zinc concentration was measured by the colorimetric method, and the values below 70 µg/dL were defined as hypozincemia. Myocardial and liver T2*-weighted magnetic resonance imaging (MRI T2*, millisecond [ms]) were valued by a free contrast MRI. The demographic, clinical, paraclinical, and laboratory data were also recorded. The data belonged to the period from December 2018 until December 2020. RESULTS: Of 64 diabetic ß-thalassemia patients, 41 cases had zinc data in their medical files (aged 38 ± 9 years, 48.8% female). 78.05% of patients (n = 32) were TDT, and 21.95% were NTDT (n = 9). The mean ± standard deviation of zinc level was 110.2 ± 127.6 µg/dL. The prevalence of hypozincemia was 9.76%, 95% confidence interval [CI] 0.27 to 19.24 (four cases). After controlling age, the odds of hypozincemia for using deferasirox (DFX) was 8.77, 95% CI 0.60 to 127.1. In ß-thalassemia patients, the age-adjusted risk of hypozincemia was calculated at 15.85, 95% CI 0.47 to 529.3 for hepatitis C. The adjusted risk of hypozincemia based on age for antacid use was 6.34, 95% CI 0.39 to 102.7. CONCLUSION: In light of this study, as well as hepatitis C, using DFX and antacids is associated with a high risk of hypozincemia amid diabetic ß-thalassemia cases. However, upward bias should be taken into consideration.

Prevalence, Severity, and Determinants of Pain in Thalassemia.

As the life expectancy in thalassemia is improving, pain is being recognized as an emerging problem. To document the pain prevalence and severity in patients with transfusion-dependent thalassemia all transfusion-dependent thalassemia patients >10 years of age (n = 165) attending the Thalassemia Day Care Center were assessed for pain prevalence, severity, and its effect on various life activities using the Brief Pain Inventory. Their medical records were reviewed for the presence of various co-morbidities. Pain was reported by 62.4% of participants with 35.2% and 59.4% of participants, reporting pain in the past 1 and 4 weeks respectively. A significantly higher pain prevalence was reported in females (p = .037), patients residing in urban areas (p = .038), and employed participants (p = .038). The commonest sites of pain were the lower back and calves. General activity (p = .02) and enjoyment of life (p = .02) were significantly affected due to pain in patients between 21 and 30 years of age. Female participants reported interference of pain with mood (p = .03). A significant correlation of pain prevalence was found with higher average serum ferritin (p = .015), moderate to severe liver iron concentration (p = .04), and lower levels of 25 hydroxyvitamin D levels (p = .03). Pain is an emerging cause of morbidity in thalassemia. The study found a significant association of pain with modifiable factors such as serum ferritin, LIC, and 25 (OH) vitamin D levels.

Economic burden of Thalassemia treatment: An analysis from the Vietnam Social Security perspective.

OBJECTIVES: Thalassemia is a genetic disorder that significantly impacts the health and well-being of individuals in Vietnam. This study aimed to assess the economic burden of Thalassemia treatment in Lam-Dong Province from the perspective of the Vietnam Social Security and to develop a model to forecast these costs. METHODS: This study analyzed the medical records of all 288 health-insured Thalassemia patients who received treatment in Lam-Dong Province from 2019-2021. The annual economic burden was calculated as the total direct medical cost of treatment per patient over one year. Bayesian Model Averaging (BMA) was utilized to forecast economic burdens. The best fit model was selected based on evaluation criteria including the R2 value, the Bayesian information criterion (BIC), and posterior model probabilities. RESULTS: The study found that the average annual economic burden of Thalassemia treatment was VND 9,947,000 (±6,854,000), equivalent to approximately USD 426.7 (±294.0), with blood transfusions being the main contributor to costs (63%). Using BMA, the best fit model to forecast economic burdens included variables including patient age, sex, and length of hospitalization, with age being the key factor with the greatest impact on the increase in economic burden. CONCLUSION: These findings provided important information for policymakers in Vietnam, as they highlighted the significant economic burden of Thalassemia treatment in the country. By developing a model to forecast these costs, policymakers can make informed decisions on how to allocate resources and support individuals with Thalassemia and their families.

Characterization of pediatric transfusion-dependent thalassemia patients in a large academic center.

BACKGROUND: Transfusion-dependent thalassemia patients are at high risk of transfusion-related complications. Yet, there is scanty data on the frequency of transfusion reactions, particularity alloimmunization among pediatric transfusion-dependent thalassemia patients. In addition, there is no consensus on the prophylactic antigen matching for prevention of alloimmunization or the extent of antigen matching for alloimmunized thalassemia patients. METHODS: We conducted a retrospective study to assess the frequency and specificity of alloimmunization among pediatric transfusion-dependent thalassemia patients receiving ABO, RhD, and K-matched red blood cell units. In addition, we studied the association between patients' characteristics and alloimmunization. The clinical and transfusion records of transfusion-dependent thalassemia patients followed up at our institution between July 2018 and June 2022 were reviewed. RESULTS: Ninety-two transfusion-dependent thalassemia patients having mean age of 13.37 years (SD, 5.56) were included in our study. Eight patients (9%) had developed clinically significant alloantibodies; six patients (6%) developed alloantibody against E antigen while two patients (2%) developed more than one alloantibody. Of alloimmunized patients, five patients had received transfusion outside Canada. Patients' sex, age, having a genotype variant, total number, and duration of transfusion received were not associated with the risk of alloimmunization. The transfusion-recipient's diagnosis of ß-thalassemia, having developed autoantibody, and history of receiving transfusion outside Canada were associated with alloimmunization. CONCLUSION: Blood matching for ABO, RhD, and K antigens resulted in, although not eliminated, lower frequency of alloimmunization than that previously reported among pediatric thalassemia patients. Extending matching to include Rh antigens could further reduce the rate of alloimmunization.

Thalassemia and malignancies: Updates from the literature.

Thalassemia management has undergone significant development with the advancement in iron chelation therapy, which has led to a prolonged life expectancy. This has been accompanied by the emergence of several new morbidities and chronic diseases, including cancer. Over the years, multiple cases of solid and hematologic malignancies in thalassemia patients have been reported in the literature, with no clear mechanism for the development of cancer in these patients despite a number of potential mechanisms. However, the results of many studies have been contradictory regarding the risk of development of malignancies in thalassemia. The present review aims to discuss the available data on cancer and thalassemia in the literature, with the latest updates regarding possible malignancy development mechanisms, risks, and the most commonly reported types.

Quality-of-life of patients living with thalassaemia in the West Bank and Gaza.

Background: In countries with low resources, the health and quality-of-life of people living with thalassaemia can be severely affected. Aims: This study examined the health-related quality-of-life of people living with thalassaemia in the West Bank and Gaza, Palestine. Methods: This was a cross-sectional study of a convenience sample of 104 patients (71 adults and 33 children) who lived with thalassaemia and their families in 2015 in the West Bank and Gaza. Participants were surveyed using the 36-item Short Form Health Survey, version 2 (SF36v2), Pediatric Quality of Life InventoryTM (PedsQL) and PedsQL Family Impact Module to assess their quality-of-life. With the SF36v2, we used normed-based scoring and for the PedsQL and Family Impact Module, we used the 0-100 scoring. Scores are reported as means and standard deviations and P < 0.05 considered statistically significant. Results: Quality-of-life scores were low across all domains, indicating poor quality-of-life. For bodily pain in the SF36v2, a significant difference was observed between the West Bank and Gaza. No significant differences were found between males and females. Data from the PedsQL showed no significant differences between the West Bank and Gaza. With the Family Impact Module, the summary score was higher among adults than among paediatric patients. Compared with other countries, thalassaemia patients in Palestine generally had lower quality-of-life scores in most domains. Conclusion: The lack of access to healthcare and blood transfusions, and the geopolitical challenges may be responsible for the low quality-of-life scores of patients living with thalassaemia in Palestine.

Clinico-Hematological Profile and Management of Children With Non-Transfusion Dependent Thalassemia (NTDT) at a Pediatric Center in Northern India.

OBJECTIVE: To study the clinico-hematological profile, complications, and management of children with non-transfusion dependent thalassemia (NTDT) in northern India. METHOD: We retrieved and analyzed the data of 69 children with NTDT diagnosed between January, 2006 to December, 2018, aged under 18 years from our unit's records. RESULTS: The participants mean (SD) age was 4.4 (3.1) years, and they presented with anemia (29%), jaundice (13%), hemolytic facies (13%), splenomegaly (87%), thromboembolism (2.9%) and pathological short stature (28.5%). The most common cause of NTDT was b-thalassemia (45%), followed by either compound-heterozygous or homozygous for Eb-thalassemia mutation. The most frequent single genotype observed was compound heterozygous for IVS1-5 (G>C) and codon 26 (G>A). The mean (SD) follow-up duration was 3.5 (2.4) years. On follow-up, 27 children (%) remained transfusion free, and 30 (%) needed occasional transfusions. 63% of patients initially presenting with pathological short stature showed improvement in growth. Amongst children older than 10 years (n=20), subclinical hypothyroidism was detected in 6 children and impaired glucose tolerance test in 1 child. CONCLUSION: Eß-thalassemia was the commonest cause of NTDT in this population.

High Serum Ferritin Levels among Blood Transfused Thalassemic Patients Admitted to the Department of Paediatrics in a Tertiary Care Centre: A Descriptive Cross-Sectional Study.

Introduction: Raised serum ferritin levels often indicate iron overload, but they are not specific as the levels are elevated in inflammatory disorders, liver diseases, alcohol excess, or malignancy. If regular transfusions are required for the patient with thalassemia, this doubles the rate of iron accumulation leading to earlier massive iron overload and iron-related damage. The aim of this study aimed to find out the prevalence of high serum ferritin levels among blood-transfused thalassemic patients admitted to the Department of Paediatrics in a tertiary care centre. Methods: A descriptive cross-sectional study was conducted at a tertiary care centre from 1 March 2022 to 31 December 2022. Ethical approval was taken from the Institutional Review Committee (Reference number: 078/79-017/HG). Children who were confirmed by haemoglobin electrophoresis on regular blood transfusion were included in the study. Those who did not gave consent were excluded from the study. Convenience sampling method was used. Point estimate and 90% Confidence Interval were calculated. Results: Out of 53 cases, the prevalence of high serum ferritin level was seen in 46 (88.79%) (80.30-97.28, 95% Confidence Interval). Among 46, 34 (73.91%) had serum ferritin levels of more than 1000 to 2500 ng/ml whereas 12 (26.09%) had more than 25000 ng/ml. Conclusions: The prevalence of high serum ferritin levels among blood transfused thalassemic patients admitted to the Department of Paediatrics in a tertiary care centre was found to be higher than in other studies done in similar settings. Keywords: blood transfusion; ferritin; thalassemia.

Knowledge and attitudes of thalassaemia among high-risk indigenous university students in Bangladesh: A pilot study.

BACKGROUND AND OBJECTIVES: Thalassaemia is an inherited life-threatening but preventable haemoglobin disorder. South Asian countries, including Bangladesh, are the hotspots of the world's thalassaemia belt. Indigenous communities are underprivileged and vulnerable to genetic disorders, including thalassaemia. Understanding the perspectives of thalassaemia of future community leaders (indigenous university students) is critical for developing a tailor-made preventive strategy relevant to their communities. In this study, we aimed to assess the level of knowledge and attitudes towards thalassaemia among indigenous university students and determine their thalassaemia carrier status. METHODS: A cross-sectional survey was conducted among 251 tribal university students using a published questionnaire between May and October 2018. The main survey instrument consisted of 22 anonymous questions. Descriptive and inferential statistical procedures were used for data analysis. RESULTS: More than half (55%) of the indigenous students had never heard the term 'thalassaemia'. Around half (49%) of the marriages in their communities were consanguineous. The mean knowledge score was abysmal (4.91±2.65 out of a 12-point scale), which was not associated with the consanguinity of their parent but home districts. Multiple linear regression of demographic variables on the total knowledge score revealed that the overall knowledge is significantly associated with their home district (p< 0.05). Participants from science disciplines scored more than 1 point than their counterparts from Arts and Humanities (p = 0.08615). CONCLUSIONS: For the first time, this study has identified knowledge gaps and misperceptions about thalassaemia among university students from indigenous communities in the southeastern region of Bangladesh. This study serves as a baseline for future interventions (premarital and prenatal screening) targeting future community leaders.

Thalassemia-related complications in pediatric, adolescent, and young adult patients with transfusion-dependent thalassemia: A multicenter study in Thailand.

INTRODUCTION: Management of transfusion-dependent thalassemia (TDT) can be challenging due to numerous potential disease-related complications and comorbidities in particular age groups. The objective of this study was to report thalassemia-related complications and risk factors in pediatric, adolescent, and young adult patients with TDT. METHODS: A multicenter web-based registry was conducted in patients with TDT aged 25 years and younger from eight university hospitals covering all parts of Thailand. Factors significantly associated with each complication were analyzed by logistic regression methods. RESULTS: Of 605 patients, 267 thalassemia-related complications were reported from 231 pediatric, adolescent, and young adult patients with TDT patients (38.2%). The most common complications were infections, followed by cholelithiasis and growth failure. Splenectomy and elevated pre-transfusion hemoglobin were statistically significant risk factors for infections (adjusted odds ratio [AOR] = 2.3, 95% confidence interval [CI]: 1.2-4.5, p-value = .01 and AOR = 1.5, 95% CI: 1.2-1.7, p-value < .005, respectively). There were two statistically significant risk factors conferred endocrinopathies, including older age (AOR = 1.06, 95% CI: 1.01-1.1, p-value = .01) and being male (AOR = 2.4, 95% CI: 1.4-4.0, p-value = .002). CONCLUSION: Nearly 40% of the patients in this cohort had thalassemia-related complications. Periodic surveillance and optimal care for respective complications may minimize comorbidities in pediatric, adolescent, and young adult patients with TDT.

Challenges of having a child with thalassemia in Pakistan: A phenomenological study.

BACKGROUND: Thalassemia is a persistent hemolytic disease and has debilitating effects on patients and their parents. Parents of these children experience pain and suffer from additional emotional strain as they provide daily and lifetime care and are mostly concerned about the health and future of their children. AIM: The study aimed to understand the experiences of parents of children with thalassemia related to their family, financial, social, treatment, and psychological issues in Pakistan. METHODS: This descriptive phenomenological study recruited 21 parents of children with thalassemia through purposive sampling until data saturation was achieved. Analysis of transcribed interviews was performed through Colaizzi's method and themes and subthemes revolving around diagnosis, challenges, and treatment issues were extracted. FINDINGS: A total of 21 Pakistani parents participated in this study. Most of the participants were females (n = 16, 76.19%), housewives/stay-at-home moms (n = 13 (61.90%), and were uneducated (n = 6, 28.57%). Regarding genetic traits, only three (14.28%) parents declared that they had genetic traits of thalassemia. The findings of our study revealed that thalassemia is enormously influenced by psychosocial and economic problems because of this disease in their families. CONCLUSION: Our findings indicated that parents of these children face multi-faceted challenges, such as physical, socio-emotional, financial, and familial. These findings may lead to an adequate understanding of their individual needs and efficient utilization of supportive and care programs. PRACTICE IMPLICATIONS: An understanding of such experiences, involving those distinctive to Pakistani culture, is especially vital to inform the care of these children and enhance their quality of life.

Health-related quality of life among thalassemia patients in Bangladesh using the SF-36 questionnaire.

Thalassemia is one of the most common autosomal recessive hereditary blood disorders worldwide, especially in developing countries, including Bangladesh. Thus, this study aimed to determine HRQoL and its determinants of thalassemia patients (TP) in Bangladesh. A cross-sectional survey was performed on 356 randomly selected thalassemia patients. Participants were invited to face-to-face interviews. Descriptive statistics (frequencies and percentages), independent t-test, ANOVA, and multivariate (linear and logistic regression) analysis was performed to analyze the data. Our demographic data showed that among 356 patients, 54% and 46% were male and female, respectively, with an average age of 19.75 (SD = 8.02) years. Most were transfusion-dependent (91%), 26% had comorbidities, and 52% were from low-income families. In the case of HRQoL, male patients showed significantly higher scores of bodily pains and physical health summaries than female patients. Lower income, high blood transfusion status, disease severity, comorbidities, and medical expenses (p < 0.05; CI 95%) are significantly associated with lower SF-36 scores. This study found an association between lower income, blood transfusion, disease severity, comorbidities, as well as medical expenses, and the deterioration of HRQoL among TP. Male patients experienced poorer HRQoL than females. National action plans are required to guarantee the holistic welfare of thalassemia patients.

Thalassaemia in China.

Because of successful thalassaemia prevention programmes in resource-rich countries and it's huge population China now has the greatest number of new cases of thalassaemia globally as well as more people with thalassaemia than any other country. 30 million Chinese have thalassaemia-associated mutations and about 300,000 have thalassaemia major or intermedia requiring medical intervention. Over the past 2 decades there has been tremendous economic growth in China including per capita spending on health care. There is now nation-wide availability and partial or full insurance for prenatal genetic testing, RBC-transfusions, iron-chelating drugs and haematopoietic cell transplants. Prenatal screening and educational programmes have reduced the incidence of new cases. However, substantial challenges remain. For example, regional differences in access to medical care and unequal economic development require innovations to reduce the medical, financial and psychological burdens of Chinese with thalassaemia and their families. In this review we discuss success in preventing and treating thalassaemia in China highlighting remaining challenges. Our discussion has important implications for resource-poor geospaces challenged with preventing and treating thalassaemia.

Clinical features and risk factors of renal dysfunctions in thalassemic patients.

INTRODUCTION: Chronic anemia, iron overload, and iron chelation therapy are the main contributing factors for renal complications in thalassemia, e.g., nephrolithiasis, glomerular disease, and renal tubular dysfunction. The prevalence and associated factors for developing renal dysfunctions in Thai patients with thalassemia, however, remained limited. This study aimed to determine the prevalence and risk factors of renal dysfunctions in patients with thalassemia. METHODS: A cross-sectional study was conducted on adult patients with thalassemia disease at Srinagarind Hospital, Khon Kaen University, Thailand. All patients were evaluated for complete blood count, blood chemistry, urinalysis, and urine biochemistry. Renal tubular dysfunction was defined as existing in at least one of the following parameters including; proteinuria, hypercalciuria, hypouricemia with uricosuria, or hypophosphatemia with phosphaturia. Logistic regression analysis was used to identify associated factors for renal dysfunctions. RESULTS: Of 105 patients, renal tubular dysfunction was found in 60 patients (57.1%). In multivariate analysis of the clinical risk factors for renal tubular dysfunction in thalassemia patients, age per 10 year increase (adjusted odds ratio [AOR] = 1.4, 95% CI: 1.0-2.0, p value 0.01) and Hb E/beta-thalassemia (AOR = 3.6, 95% CI: 1.3-10.3, p value 0.01) were statistically proven to be associated with renal tubular dysfunction. Hyperuricosuria was a significantly associated factor for microhematuria. (AOR = 2.9, 95% CI: 1.1-8.0, p value 0.03). CONCLUSIONS: Renal dysfunctions are prevalent in thalassemia patients, with older age and Hb E/beta-thalassemia genotype as significant risk factors for renal tubular dysfunction. Hyperuricosuria is a risk factor for microhematuria. Renal dysfunctions should be recognized and monitored in aging patients with Hb E/beta-thalassemia.

Thalassaemia-A global view.

The thalassaemias are a group of genetic disorders of haemoglobin which are endemic in the tropics but are now found worldwide due to migration. Basic standard of care therapy includes regular transfusions to maintain a haemoglobin level of around 10 g/dL, together with iron chelation therapy to prevent iron overload. Novel therapies, bone marrow transplantation, and gene therapy are treatment options that are unavailable in many countries with stressed economies. This Wider Perspectives article presents the strategies for management of an adolescent refugee patient with beta thalassaemia, as it would be performed by expert haematologists in six countries: Italy, Lebanon, Oman, the Sudan, Thailand and the United States. The experienced clinicians in each country have adapted their practice according to the resources available, which vary greatly. Even in the current modern era, providing adequate transfusions and chelation is problematic in many countries. On the other hand, ensuring adherence to therapy, particularly during adolescence, is a similar challenge seen in all countries. The concluding section highlights the disparities in available therapies and puts the role of novel therapies into a societal context.

Combatting thalassemia in the United Arab Emirates.

Thalassemia is a major health challenge in the United Arab Emirates (UAE), however previous studies have focused on genetics and molecular characterisation while neglecting culture and society. In this commentary, we discuss how tradition and religion in the UAE (e.g. consanguinity, endogamy, illegality of abortion and in vitro fertilisation, adoption restrictions), and limited academic research, affect the prevention and management of the blood disorder. It is suggested that changing attitudes towards traditional marriage practices, education and awareness campaigns targeting families and young people, and earlier genetic testing, are culturally acceptable solutions to curbing the high incidence of thalassemia in the UAE.

Red blood cell alloimmunizations in thalassaemia patients with regular transfusion in China: A systematic review and meta-analysis.

OBJECTIVE: The development of red blood cell alloimmunization intensifies transfusion complication in thalassaemia patients. The purpose of this paper is to evaluate the existing evidence on the prevalence of erythrocyte alloimmunization in China by meta-analysis. We systematically searched cross-sectional studies regarding the alloimmunization of thalassaemia patients with regular blood transfusion in China from year 2000 to May 2021 in the Cochrane library, PubMed, EMBASE, Web of Science, and Chinese databases including CNKI, Wanfang Data, Vip and CBM. Data extraction and quality evaluation of the included studies were performed. Meta-analysis was performed using the DerSimonian and Laird random-effects models with inverse variance weighting. The presence of publication bias was tested by Egger's test, and the methodological quality of each included article was evaluated by the criteria specific to prevalence studies. RESULTS: A total of 1874 patients and 263 alloantibodies from 11 studies were identified and included in the meta-analysis. The proportion of alloantibodies against antigens belonging to the Rh, MNSs and Kidd systems were as high as 70.3%, 17.9%, and 6.5%, respectively. Meta-analysis showed that the overall prevalence of alloimmunization among transfusion-dependent thalassaemia patients in China is 11.4% (95%CI: 7.2%∼16.3%). CONCLUSIONS: The characteristics of red blood cell alloimmunization among thalassaemia patients with regular transfusion in China differ greatly from those in other countries. Therefore, transfusion strategies shall be actively adapted in line with thalassaemia patients in China to minimize the risk of alloimmunization.

A Hematopoietic Stem Cell Transplantation Startup in Iraqi Kurdistan: Results in Thalassemia Patients and Analysis of the Methodology.

In hemoglobinopathy-prone regions, like the Middle East, thalassemia is the most prevalent noncommunicable life-threatening disorder of children and is highly curable by hematopoietic stem cell transplantation (HSCT). Moreover, transplantation is very cost-effective, and HSCT programs can be established directly in middle-income countries (MICs) at a reduced cost while maintaining quality standards and outcomes consistent with international ones. The aim of the present study was to review and verify the efficacy of the applied methodology through the analysis of 47 consecutive matched-related HSCTs in children with thalassemia. In 2016, the first HSCT unit for adults and children with both malignant and nonmalignant diseases was developed in Iraqi Kurdistan, thanks to a capacity building project funded by the Italian Agency for Development Cooperation. Data on clinical activity were obtained from a cohort of patients treated in the newly established HSCT unit. Primary endpoints were overall survival (OS) and thalassemia-free survival (TFS). Startup of the HSCT unit was completed over a 3-year period. Assessing and meeting minimum requirements were crucial for the startup; moreover, a team of international health care professionals (HCPs), all experts in the field of HSCT, conducted the education and training phase, involving all the clinical and nonclinical professionals in the program. At a median follow-up of 2.6 years, the 3-year TFS and OS were 82.8% (SE, 5.5%) and 87.1% (SE, 4.9%), respectively. TFS and graft-versus-host-disease-free composite survival was 80.6% (SE, 5.8%). At present, the HSCT service is completely autonomous, and more than 250 transplants have been done in both adults and children. The minimal essential requirements for an HSCT startup may be affordable in many MICs. Our results for thalassemia are comparable with international data. A twinning program with an international group of experts and a capacity-building approach is crucial for the success of the program, a strategy that allows for rapid development of HSCT units.

Pregnancy outcomes among women affected with thalassemia traits.

OBJECTIVE: To compare the maternal and perinatal outcomes between a group of pregnant women diagnosed with thalassemia traits and normal controls. STUDY DESIGN: A retrospective cohort study was conducted on singleton pregnant women affected and unaffected by thalassemia traits who attended an antenatal care clinic and delivered in Siriraj Hospital. Thalassemia status for all subjects was diagnosed by hemoglobin typing and/or DNA analysis. Patient charts were reviewed from January 2007 to December 2018. The control participants were randomly selected from the same period, with a control-case ratio of around 1:1. RESULTS: Overall, 1288 women with thalassemia traits (348 with α thal-1 trait, 424 with ß thal trait and 516 with HbE trait) and 1305 women in the control group were recruited. Baseline characteristics of both groups were similar, with the exception that the hematocrit level in the first trimester in the thalassemia trait group was significantly lower than that in the control group (34.8 ± 3.4% VS 36.9 ± 3.0%; p < 0.001). The prevalence of pregnancy-induced hypertension (PIH) was higher in the thalassemia trait group, at 6.9% VS 4.7% in the control group; p = 0.018. When subgroups were analyzed between each thalassemia trait, the number of maternal anemias in the first and third trimester was higher for all thalassemia traits compared to the normal group. The ß thal and HbE traits increased the risk of PIH, with a relative risk (RR) = 1.67 and 1.66, respectively. CONCLUSIONS: Thalassemia traits minimally but significantly increase the risk of hypertensive disorders and maternal anemia. In addition, physiological changes during pregnancy may worsen the severity of anemia in the pregnant women with thalassemia traits.