Thalassemia Research Articles

Association Between β-thalassemia and Atrial Fibrillation: Insights from the United States National Inpatient Sample.

Transfusion-dependent β-thalassemia (thalassemia major and thalassemia intermedia) (BT) requires repeated blood transfusions for survival due to ineffective erythropoiesis. Consequently, iron overload can predispose the patient to atrial fibrillation (AF) despite the improved prognosis achieved with transfusion and chelation therapy. We sought to study the impact of AF on BT patients through a large database analysis. The current study used data from the Agency for Healthcare Research and Quality's Healthcare Cost and Utilization Project National Inpatient Sample collected from 2016-2019. A total of 17,150 admissions were included, of which 2100 (12.2%) admissions had a concomitant diagnosis of AF. Admissions with AF were older (mean age, 72.1 vs. 47.3 years; P < .001) and more likely to have congestive heart failure (CHF), hypertension, valvular heart disease, and renal disease. BT admission was associated with a higher AF prevalence than non-BT admission across all age groups. AF was not associated with an increased risk of in-hospital mortality (adjusted odds ratio [aOR], 1.36; 95% confidence interval [CI], 0.67-2.78; P = .398) or an increased length of stay (LOS) (aOR, 1.00; 95% CI, 0.78-1.29; P = .997) in the general cohort. In a subgroup analysis, AF was associated with increased in-hospital mortality in women (aOR, 2.73; 95% CI, 1.09-6.8; P = .031). Predictors of in-hospital mortality were increasing age, CHF, and liver disease, while predictors of prolonged LOS were diabetes mellitus, CHF, and increasing age. Further studies are warranted to develop strategies to improve the quality of care and outcome in this population.

The Efficiencies of Erythrocyte Indices in Differential Diagnosis of Beta Thalassemia Minor and Iron Deficiency Anemia

Background: The most common causes of microcytic anemias are Iron Deficiency Anemia (IDA) and Beta Thalassemia minor (BTm).

A COMPARATIVE STUDY OF CHEMILUMINISCENCE IMMUNOASSAY (CLIA) AND IMMUNOCHROMATOGRAPHIC TECHNIQUE (ICT) FOR ?-THALASSEMIA (MAJOR) PATIENTS IN LOCAL POPULATION

The sustainability of beta thalassemia (major) patients is dependent on regular blood transfusion so they are at a greater risk of acquiring transfusion transmitted infections (TTIs). The objective of this research project was to compare the efficiency of two blood screening techniques such as chemiluminescence immunoassay (CLIA) and immunochromatographic technique (ICT) for the detection of transfusion transmitted infections in ?-thalassemia (major) Patients in local population. For this purpose, 250 blood samples were collected and screened through CLIA and ICT. Results showed that 30% of the samples were positive for different infectious diseases like hepatitis B or C virus, Human immunodeficiency virus (HIV) infections, and infections with syphilis or malarial agents, while 70% of samples were free from any kind of infections. Among all the infectious diseases the incidence of hepatitis C virus (HCV) was the highest i.e., 23.6% and 26.4% incidence of HCV was recorded through ICT and CLIA respectively. The second highest incidence was of hepatitis B virus followed by the other infectious diseases. The results showed that CLIA was more sensitive as compared to ICT in detecting the infections in blood. All blood banks and transfusion centers need to implement authentic screening of blood to counter the TTIs.

Justification of Universal Iron Supplementation for Infants 6-12 months in Regions with a High Prevalence of Thalassemia.

Many clinicians hesitate to adopt a universal infant iron supplementation program due to the risk of increased iron absorption for those with thalassemia. We aimed to determine thalassemia prevalence in 6- to 12-month-old infants, along with the iron status of those with and without thalassemia. We performed a cross-sectional descriptive study of infants attending the Well Baby Clinic at Thammasat University Hospital for routine checkups. Complete blood count, hemoglobin electrophoresis, iron parameters, and molecular genetics for common α- and β-thalassemia were evaluated. Overall, 97 of 206 (47%) participants had thalassemia minor, the majority having Hb E traits. None had thalassemia intermedia or major. Familial history of anemia or thalassemia presented an increased risk of detecting thalassemia minor in offspring (OR 5.18; 95% CI 2.60-10.33, p=0.001). There were no statistical differences in transferrin saturation, serum ferritin and hepcidin between iron-replete infants with thalassemia minor and those without. However, one-third of infants with thalassemia minor (31/97) also had iron deficiency anemia (IDA), with a similar risk of having iron deficiency to infants without thalassemia. There was no hepcidin suppression in our infants with thalassemia minor as compared to controls. Both thalassemia and IDA are endemic to Southeast Asia. Infants with thalassemia minor, particularly with Hb E and α-thalassemia traits, are at risk of IDA. Our short-term universal iron supplementation program for 6- to 12-month-old infants does not appear to increase the risk of those with thalassemia minor developing iron overload in the future.

Clinical Evaluation of Some Biochemical and Hematological Variables and Their Relationship to Serum Ferritin Levels of Major Beta Thalassemia Patients in Maysan Governorate - Iraq.

Thalassemia is a recessive genetic disease resulting from a disorder and defect in hemoglobin production. The current study was designed to evaluate some hematological and biochemical variables and their relationship to serum ferritin (iron stock ) levels in Thalassemia patients and study them in terms of housing, age and blood types in Maysan Governorate. This study was conducted during the period from December 2020 to the end of October. The results of the current study recorded a highly significant relationship (P&lt;0.000) for all hematological parameters with a decrease in the levels of (HGB) (RBC), (MCV) for patients and an increase in the level of white blood cell count (WBC) and platelet count (PLT) compared to the control. The current study recorded a highly significant relationship (P&lt;0.000) and high levels of all liver enzymes (ALP), (ALT), (AST), (TSB), (TP) compared to the control group. The present study showed a slight decrease in urea levels and an increase in creatine levels compared to the control. The results of linear regression analysis showed a correlation between ferritin and hematological parameters, where the relationship was significant with RBC, HGB, MCV and insignificant with WBC, PLT, while there was a correlation between ferritin levels and liver and kidney enzymes, where the relationship was significant and positive with ALP. (AST) (TSB), and non-significant positive for (ALT), (TP), (Urea), (Creatinine).

David V procedure and hemiarch replacement in a patient with Loeys-Dietz-Syndrome and beta thalassemia minor: a case report

We report the case of a 36-year-old European female patient presenting with a sinus valsalva aneurysm of 47 mm with moderate aortic regurgitation. Additionally, an aneurysm of the brachiocephalic trunk and multiple aneurysms of the right internal mammary artery were identified. Previous medical history included Loeys-Dietz syndrome (LDS) Type RII due to a TGF-beta receptor mutation, and beta thalassemia minor with a baseline hemoglobin of 9,3 g/dL on admission.Reconstruction of the aortic root and hemiarch replacement was performed in circulatory arrest under moderate hypothermia. During surgery, hypothermia was required as part of the cerebral protection strategy. We aim to highlight special considerations and discuss the effects of cooling, rewarming and the use of cardiopulmonary bypass (CPB) during extensive surgery in a patient with LDS and beta thalassemia minor.

Incidence Of Hemoglobinopathies In South Indian Population – 4 Year Study

Background&#x0D; Hemoglobinopathies are very common, but majority being asymptomatic it is under diagnosed. Hemoglobinopathies are important health care threat in tropical countries. The present study analyzed the incidence of hemoglobinpathies in south Indian population reported in regional laboratory in Chennai catering Tamil nadu and Andhra Pradesh population.&#x0D; Methods&#x0D; A cohort of samples which was received for abnormal hemoglobinopathy studies for evaluation of anemia and prenatal screening from Tamil nadu and Andrapradesh population for 4 years was analyzed using capillary electrophoresis method in (Sebia Minicap instrument) for incidence of hemoglobinopathies.&#x0D; Result&#x0D; Total number of cases studied during 4 years (2018-2022) is 17678, Of which 1194(7%) were detected with hemoglobinopathy/ abnormal hemoglobin variant. Of which 56.28% were female and 43.72% were male. Common age group under study is 21-30(30.07%). Beta thalassemia trait was detected at the highest frequency (69.13%) followed by HbE-Beta thalaseemia(6.87%) and least being HbD homozygous.&#x0D; Conclusion&#x0D; Our study analyzed a cohort and reported a spectrum of hemoglobin variants and its incidence in Tamil nadu and Andhrapradesh population.

Assessment of thyroid stiffness in beta thalassemia patients by using shear-wave ultrasound elastography

Assessment of thyroid stiffness in beta thalassemia patients by using shear-wave ultrasound elastography

Neutrophil Gelatinase Associated Lipocalin: A Possible Role in β Thalassemia Syndromes

Abstract Background Beta Thalassemia is a group of inherited blood disorders that caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable outcomes ranging from severe anaemia to clinically asymptomatic individuals. Neutrophil gelatinase-associated lipocalin (NGAL), is a protein which is encoded by the LCN2 gene. NGAL is involved in innate immunity by sequestrating iron that in turn limits bacterial growth. It is expressed in neutrophils and in low levels in the kidney, prostate, and epithelia of the respiratory and the alimentary tracts. It also plays a key role in the physiology and pathophysiology of red blood cells, particularly in anemia. Aim of the Work The aim of the present work is to assess plasma level of NGAL in Beta thalassemia syndromes and correlate with laboratory hematological data and iron profile. Patients and Methods A Case-Control study conducted on Beta Thalassemia patients of both sexes attending the outpatient clinic of Ain Shams University Hospitals, this Pilot study of 50 previously diagnosed Beta Thalassemia patients and 30 sex and age matched healthy control subjects. Results The results were correlated with clinical and laboratory parameters. Comparative analysis of the results showed that all groups were homogeneous in terms of size and demographic characteristics. This can explain our results that shows that there is a highly statistically significant difference (p-value &amp;lt; 0.001) between the cases subgroups regarding the inter-transfusion interval with longer intervals among the thalassemia intermedia subgroup. While by comparing the Hb electrophoresis parameter between the 2 groups HbA% levels were higher is the group of serum ferritin &amp;lt;1000 ng/ml and HbF% where higher in group of serum ferritin &amp;gt;1000 ng/ml with (p-value &amp;lt; 0.05) for both of them. On conducting a linear regression analysis we found that the intertransfusion interval was the only independent parameter to have an effect on NGAL level on our patient group with regression coefficient -5.78 and this complies with our results of correlation between NGAL and those parameters mentioned and discussed previously. Conclusion The relationship between NGAL and iron level in Egyptian β-TM patients proved in our results has confirmed the proposed regulatory role played by NGAL on erythropoiesis and iron metabolism in β-thalassemia, NGAL at a cutoff value of &amp;gt; 100 proved to be an efficient predictor of increased serum ferritin &amp;gt; 1000 ng/ml. we believe that incorporating NGAL testing in the work up of β-TM patients in the early phases of iron transfusion dependency would provide a promising sensitive and predictive tool for early iron accumulation. We recommend further studies β-TM patients with larger samples size to clarify the co-regulatory role of erythropoiesis and iron metabolism played by NGAL.

Comparison of Hb A1c Quantification in the Presence of Hemoglobin Variants of an HPLC Assay with an Enzymatic Assay.

In this study, we evaluated the impact of hemoglobin (Hb) variants on the performance of the Abbott Alinity c and Bio-Rad Variant II Turbo 2.0 HPLC Hb A1c assays. The analytical performance of the Abbott Alinity c Hb A1c (enzymatic) assay was compared to the Bio-Rad Variant II Turbo 2.0 HPLC method using leftover whole blood EDTA samples with and without the presence of a hemoglobin variant. Assay precision was determined from an analysis of controls. Bias was estimated from analysis of a set of 40 samples analyzed by a Tosoh G8 HPLC instrument at the University of Missouri Diabetes Diagnostic Laboratory, an NGSP Secondary Reference Laboratory. Between-day precision was excellent for both methods (<3%). Bias met NGSP criteria of ±5% to target value. Correlation between the Alinity and Bio-Rad methods was good for patient samples without a hemoglobinopathy (y = 1.028x - 0.38, standard error of the estimate (SEE) = 0.16, n = 36, mean bias = -0.22). A total of 700 hemoglobin variant samples were evaluated on the 2 methods. Of the hemoglobin variants, 640/700 gave results on both methods: hemoglobin (Hb) S trait (n = 452), C trait (n = 131), D trait (n = 23), E trait (n = 26), and a mixture of other hemoglobinopathies (n = 8) including beta thalassemia, high hemoglobin F, transfused Hb SC, transfused Hb SD, and transfused Hb SS, or unknown variant. There was good agreement for the 640 Hb variants between the methods with a range of mean differences of -0.10 to +0.06 depending on the variant, but more variability (SEE 0.25 to 0.39). Sixty samples did not have paired results. To our knowledge, this study was the largest investigation of the effect of hemoglobinopathies on the Abbott Alinity c Hb A1c assay. Analytical performance varied depending on the specific hemoglobin variant trait when compared to the Bio-Rad Variant II Turbo 2.0 HPLC method.

Retracted: Clinical Study of Mobile Application- (App-) Based Family-Centered Care (FCC) Model Combined with Comprehensive Iron Removal Treatment in Children with Severe Beta Thalassemia.

[This retracts the article DOI: 10.1155/2022/4658709.].

Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients

Thalassemia is one of the most prevalent genetic disorders worldwide. The present study aimed to explore the mutational spectrum of all hemoglobin (HB) encoding genes and to identify the potentially damaging and pathogenic variants in the beta (β)-thalassemia major patients and thalassemia minor carriers of Southern Punjab, Pakistan. A total of 49 β-thalassemia major patients and 49 carrier samples were screened for the identification of HBA1, HBA2, HBB, HBD, HBE1, HBG1 and HBG2 variants by NGS. PCR was performed for the amplification of HB encoding genes and the amplified product of 13 patients and 7 carrier samples were processed for the Sanger sequencing. Various bioinformatics tools and databases were employed to reveal the functional impact and pathogenicity potential of the observed variants. Results depicted a total of 20 variants of HB-related genes by NGS and 5 by Sanger sequencing in thalassemia patients. While 20 variants by NGS and 3 by Sanger were detected in carriers. Few known genetic variants of HB-encoding genes are being reported for the first time in Pakistani thalassemia patients and carriers. However, two novel HBB variants c.375A>C (p.P125P) and c.*61T>G and a novel variant of HBE1 (c.37A>T (p.T13S)) were also documented. Pathogenicity analysis predicted the pathogenic potential of HBB variants (c.47G>A (p.W16*), c.27-28insG (p. S10fs), and c.92+5G>C) for β thalassemia. The study of functional impact indicated that these HBB variants result in the premature termination of translation leading to the loss of functional β-globin protein. It is therefore suggested that the pathogenic HBB variants, identified during present study, can be employed for the diagnosis, carrier screening, and planning therapy of thalassemia.

Risk and protective factors for resilience among adolescents and young adults with beta-thalassemia major

BackgroundResilience is the ability to overcome adversity in response to a potentially traumatic event. It can relieve people’s discomfort and build personal capacity when facing a stressful situation such as beta thalassemia major. Resilience is a complex and multidimensional concept and is influenced by protective and risk factors. Therefore, the aims of the present study were to (1) investigate the relationship between protective (social support and hope) and risk (uncertainty and defensive coping) factors with resilience and (2) examine the mediating role of courageous coping between these protective and risk factors in resilience.MethodsThis descriptive-analytical study was performed on 312 adolescents and young adults with beta-thalassemia major aged 12–24 years; they were selected using purposeful sampling from two different outpatient thalassemia clinics in the south of Iran. Data were collected in a face-to-face survey using Zimmet Multidimensional Scale of Perceived Social Support, Herth Hope, Stewart Uncertainty in Illness scale, Jalowiec Coping, and Connor–Davidson resilience Scale from April 2022 to November 2022. The collected data were analyzed using descriptive tests, Pearson correlation, and a structural equation model.ResultsAccording to the main findings of mediation analysis, courageous coping partially mediated the relationship between social support and resilience [(β = 0.042; 95% BC CI (0.003, 0.131)] and fully mediated the relationship between hope and resilience [(β = 0.166; 95% BC CI (0.031, 0.348)]. In other cases, uncertainty and defensive coping had a direct and indirect effect on resilience, respectively.ConclusionBased on these results, health professionals and healthcare policymakers should consider this mediator in developing programs to improve resilience. Also, the use of courageous coping could modulate the effect of defensive coping on resilience. Therefore, teaching the use of courageous coping can play an important role in improving resilience.

E54 The Ehlers-Danlos syndrome, a disease of late diagnosis: report two cases

Abstract Introduction Ehlers-Danlos syndromes (EDS) are a heterogeneous group of rare inherited collagen disorders. Clinical signs are dominated by generalized joint hyper laxity, skin hyper elasticity and tissue fragility. The diagnosis is clinical in the absence of genetic testing. There is no curative treatment but it is possible today to improve the quality of life of these patients. We report two cases of EDS from a non-consanguineous marriage, without similar cases in their families. Observations CASE 1: Mrs N.B, 31 years old, 2nd of 4 siblings, with a history of heterozygous beta thalassemia, she presented with mechanical gonalgias secondary to patellar dislocations associated with ankle sprains since the age of 5 years. On clinical examination: generalized hyper mobility (Beighton score 9/9), hyper elasticity of the skin, skin fragility, atrophic scarring, papery skin of the knees, hyper transparency of the skin, epistaxis at the slightest scratching, the rest of the somatic examination was unremarkable. The standard biological workup, X-ray and ultrasound of the knees and ankles were without abnormalities. Classic EDS (I and II) was retained according to the 2017 international classification. The patient responded to tier I analgesics. Case 2 Mrs B.L, 24 years old, the third of five siblings, with a history of bronchial asthma, presented with bilateral and symmetrical polyarthralgia affecting the large and small joints with mixed type spinal pain associated with spontaneous myalgia in a context of profound asthenia evolving for 14 years. On osteoarticular examination, generalized joint hypermobility was noted (Beighton score 9/9); on the cutaneous level, transparency and hyperextensibility of the skin with multiple ecchymoses due to tissue fragility associated with delayed healing with cutaneous hyperesthesia, all associated with exertional dyspnea, chronic abdominal pain and gastroesophageal reflux since the onset of his illness. Biologically, no inflammatory syndrome. The autoimmune workup (RF, ACPA, FAN) was negative and other investigations were without abnormalities. X-rays of the chest, hands, wrists and knees were unremarkable. The patient was classified as having hypermobile EDS (type III) according to the international classification of the disease. The patient responded only partially to analgesics (levels I, II and III) and to tricyclic antidepressants. Conclusion The diagnosis of EDS must be made early in order to ensure optimal symptomatic management. The management must be multidisciplinary, including an evaluation, a psychological follow-up, a treatment of the pain and physiotherapy.

An Observational Study of Glomerular Functions in Beta-thalassemia Major Children by Schwartz Formula and Technetium 99m Diethylenetriaminepentaacetic Acid Renogram

Background and Aim: Kidney dysfunction is reported in significant number of beta thalassemia major children. The aim of this study was to determine the prevalence of glomerular dysfunction in beta-thalassemia major children on regular blood transfusion (BT) and chelation therapy, and to find the correlation between glomerular filtration rate (GFR) estimated by Schwartz formula and Technetium 99m diethylenetriaminepentaacetic acid (99mTc-DTPA) renogram with ferritin level and cumulative transfusion load. Materials and Methods: An observational cross-sectional study conducted was done on 110 children diagnosed with beta-thalassemia major receiving regular BT and chelation therapy. Clinical examination, biochemical investigations (serum creatinine, ferritin) and DTPA renal scan were done. Estimated GFR calculation was done by Schwartz method and 99mTc-DTPA scan. The normal values of GFR were taken from the standard value as per KDIGO guidelines. P &lt; 0.05 was considered statistically significant. Results: The prevalence of glomerular dysfunction by Schwartz formula and DTPA renogram was 44% and 24%, respectively. The GFR calculation (Schwartz formula and DTPA renogram) were weakly positively correlated (r = 0.126, P = 0.547). There was significant association between GFR Schwartz and duration of iron chelation, as children with abnormal GFR had significantly more duration of iron chelation &gt;5 years (28% vs. 4%, P = 0.003). GFR (Schwartz formula and DTPA renogram) showed no association with cumulative transfusion load and disease duration (P &gt; 0.05). GFR Schwartz formula and GFR–DTPA showed no correlation with serum ferritin with r = 0.179, (P = 0.392) and r = 0.278 (P = 0.178). Conclusion: There is a significant derangement in the renal function of children of beta-thalassemia major on chronic BT and iron chelation therapy. GFR holds a direct correlation with the increasing duration of iron chelation.

Mortality and complications in Omani patients with beta-thalassemia major: a long-term follow-up study.

Beta thalassemia major (β-TM) is a genetic blood disorder requiring lifelong blood transfusions. The resulting iron overload damages multiple organs, particularly the heart and endocrine organs. This study aimed to describe and assess the predictors of survival and complications in Omani patients with β-TM. Methods: All β-TM patients registered in the day care of Sultan Qaboos University Hospital were included in this retrospective study. Results: There were 187 patients with β-TM with a median follow-up of 24.9 years. The median ages at diagnosis and the start of chelation were 0.7 and 4.8 years, respectively. The following complications developed at different time points [Median (age in years), Complication Free Probability at 20 years]: Death (20.0 years;85%), hypogonadism (15.9 years;50%), insulin-dependent or non-insulin dependent diabetes (20.0 years;88%), cardiac complications (20.3 years;91%), osteoporosis (20.7 years;96%), hypothyroidism (25.7 years;97%), liver complications (7.3 years;54%). The number of complications predicted death (P = 0.0038). Those born after 1980 had a lower risk of death (P = 0.005), hypogonadism (P = < 0.0001), and cardiac complications (P = 0.004). Higher serum ferritin at the start of chelation was associated with the development of diabetes (P = < 0. 001). Conclusions: This long-term study shows complications development at different ages, and the number of complications is associated with survival. Later birth cohorts had a lower risk of death, hypogonadism, and cardiac complications. There was a persistent negative impact of delay in the start of iron chelation that is present even after a long follow-up. (www.actabiomedica.it).

Anesthetic Management in Preeclampsia Patients with Thalassemia Minor B: A Case Report

Introduction: One of the complications of anesthesia that can be encountered in thalassemia patients is cardiovascular instability caused by chronic anemia, cardiomyopathy, and endocrinopathy. In addition, patients with preeclampsia may also experience postoperative risks such as sustained hypertension, stroke, venous thromboembolism, and seizures. This case report will discuss the anesthetic management of pregnant women with preeclampsia and β thalassemia minor.&#x0D; Case presentation: The patient is a pregnant woman G6P0141, 34 weeks gestation, with preeclampsia and a history of minor β thalassemia without therapy. Patients with thalassemia minor are often asymptomatic before pregnancy, but physiological changes during pregnancy can contribute to anemia during pregnancy. Beta thalassemia minor is also associated with an increased incidence of hypertension in pregnancy. Neuraxial anesthesia is recommended in preeclamptic patients to avoid severe hypertension and has a protective effect against postoperative apnea in premature infants.&#x0D; Conclusion: Anesthetic management in asymptomatic patients with minor thalassemia is not much different from normal pregnant women. The risk of bleeding needs special attention, especially in thalassemia patients who have anemia. In patients with preeclampsia, neuraxial anesthesia is preferred over general anesthesia. Postoperative patient care is carried out in an obstetric high dependency unit (OHDU). The patient went home after being treated for 3 days without complications at the hospital.

Extramedullary haematopoiesis in patients with thalassemia: a cross-sectional description of its prevalence, clinical features and survival

IntroductionDespite knowledge advances on extramedullary haematopoiesis (EMH) in thalassemic patients, the real picture remains an open issue. ObjectivesTo assess EMH prevalence in patients with thalassemia major (TM) and intermedia (TI), to describe magnetic resonance imaging (MRI) findings and to explore clinical risk factors. MethodsIn this cross-sectional study, images and clinical records of 184 consecutive patients with thalassemia who underwent T2* MRI between 2004 and 2011 were reviewed. Association of EMH with survival was investigated for patients with available follow-up charts. ResultsEMH was detected in 16/168 (9.5%) patients with TM (aged 19-49 years) and in 3/16 (18.8%) with TI (aged 36-41 years). Most (88%) had paravertebral thoracic and/or abdominal masses. Age was significantly associated with EMH risk (hazard ratio, [HR] 1.10/year; confidence interval [CI]: 1.03-1.18; p-value < 0.001), while lower pancreatic iron content by T2*MRI (HR: 0.94/ms; CI: 0.89-0.99; p-value = 0.049) was a protective factor. Estimated survival rate was superior for EMH-positive (n = 19) when compared to EMH-negative patients (n = 75) (p-value = 0.013). ConclusionsThe prevalence of EMH was 10.3% (19/184), presented mainly as tumoral masses of 3 to 10 cm. Age was a risk factor for EMH development, while lower pancreatic iron might be a protective factor in this cohort.

Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.

The heterozygous condition for β-thalassemia mutation associated with an extra functional α-globin gene can produce a Thalassemia Intermedia (TI) phenotype. This genotype is the second in frequency in the French Thalassemia Registry NaThalY that prospectively collects laboratory and clinical data. The present report analyses transfusion needs, iron overload (ferritin, hepatic and cardiac iron concentrations), and complication rates in 45 patients included in NaThalY and presenting a heterozygous β0 or β+ -thalassemia mutation associated with a triplication at HBA locus. This cohort was compared to a cohort of patients with TI due to mutations in the beta-globin gene only and included in the French registry. Patients with an extra functional α-globin gene showed a less severe anemia, lower transfusion needs and lower complication rates than those with TI related to the β-globin gene only. Nevertheless, some of them displayed complications such as cholelithiasis or extramedullary hematopoiesis. In addition, one third of the cohort needed transfusions and another third was under iron chelation. The genotype associating a heterozygous β0 or β+ -thalassemia mutation with a triplication at HBA locus should be accurately diagnosed as it could lead to symptomatic anemia and to potential iron overload and iron-related complications even in patients with no transfusion need.

Factors for the development of anemia in patients with newly introduced olaparib: A retrospective case-control study.

Anemia is the most common dose-limiting toxicity of olaparib. However, few studies have analyzed the clinical features of olaparib-induced anemia. This study investigated the clinical features of olaparib-induced anemia. Additionally, the role of folate or vitamin B12 in olaparib-induced anemia was examined. This retrospective case-control study included patients who received olaparib at Mie University Hospital between January 2018 and December 2020. Data were collected between initiation of olaparib and discontinuation of olaparib or till December 2021. We investigated the development of grade ≥ 3 anemia during olaparib administration for at least 1 year. We examined patients with grade ≥ 3 anemia considering the mean corpuscular volume (MCV), its association with gastrointestinal events and cumulative dose of carboplatin. For the sub-study analysis, data on patients treated with olaparib for ovarian or endometrial cancer were collected to evaluate the Common Terminology Criteria for Adverse Events (CTCAE) or monthly changes in folate or vitamin B12 levels from baseline to 3 months after olaparib initiation. These data were collected between initiation of olaparib and discontinuation of olaparib or till November 2022. Patients with no data on folic acid or vitamin B12 levels were excluded from the sub-study. In the main study, 40 patients were included. Eighteen patients (45%) developed grade ≥ 3 anemia, and all patients discontinued treatment (94%) or reduced olaparib dose (67%) after developing anemia. Among the patients with grade ≥ 3 anemia, 9 (50%) exhibited macrocytic anemia and 15 (83%) had previously received carboplatin. The incidence of grade ≥ 2 dysgeusia was significantly higher in patients with grade ≥ 3 anemia (P = .034). Moreover, the cumulative dose of previously administered carboplatin was higher in patients who had 3 episodes of anemia (P = .102). In sub-study, 12 had data on folic acid and vitamin B12 levels. Sub-study analysis showed that none fulfilled the criteria for deficiency of folate or vitamin B12, while 3 developed grade 3 anemia. This study revealed that olaparib-induced anemia frequently occurs as macrocytic and normocytic erythroblastic anemia without folate or vitamin B12 deficiencies. A high cumulative dose of previously administered carboplatin and dysgeusia may be associated with olaparib-induced anemia.