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Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Jun 2024α-thalassemia is a type of microcytic hypochromic anemia caused by variants of alpha-globin gene, and is one of the most common monogenic disorders in southern China....
α-thalassemia is a type of microcytic hypochromic anemia caused by variants of alpha-globin gene, and is one of the most common monogenic disorders in southern China. The population screening model based on hematologic phenotype has achieved great results in areas with high incidence of thalassemia. However, with the continuous decline of the cost of genetic testing and implementation of screening programs for thalassemia gene carriers, more variants in the alpha-globin gene have been discovered, which also brings great challenges to clinical genetic counseling. From the perspective of alpha-globin genetic analysis, this consensus has discussed the contents of pre- and post-test genetic counseling, with an aim to provide standardized guidance for clinicians.
Topics: Humans; alpha-Thalassemia; Genetic Counseling; Genetic Testing; alpha-Globins; Consensus
PubMed: 38818550
DOI: 10.3760/cma.j.cn511374-20240131-00079 -
The Medical Journal of Malaysia May 2024Thalassaemia has been prevalent with high morbidity and mortality rates since 1925. Although there is a lack of systematic review on the costs of prevention that has...
INTRODUCTION
Thalassaemia has been prevalent with high morbidity and mortality rates since 1925. Although there is a lack of systematic review on the costs of prevention that has yielded reductions in thalassaemia prevalence, this review will show a widespread presence of complex but effective strategies in reducing national thalassaemia prevalence.
MATERIALS AND METHODS
A systematic search was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA 2020). Designated keywords were combined with search functions and Boolean operators in databases like Scopus, Web of Science and several other search databases.
RESULTS
The search identifed 5425 potential articles. Most countries reported a decline in thalassaemia prevalence after implementing intervention programmes for several decades. The screening methods, however, varies, and the speed of reductions depends on the type of screening approach that involves blood screening of adolescence and antenatal mothers and, in some countries, includes termination of pregnancy. In addition, the cost of these initiatives varies as it was challenging to find a common denominator. However, the endpoint concedes that the cost of screening, although substantial, would be offset by the cost of reduction of cases. In some countries, cost-effectiveness analyses have been reported to support the initiatives of thalassaemia screening and prevention in the long run.
CONCLUSION
The results showed significant variations in success rates with a significant reduction in the prevalence of Thalassaemia. Most successful are countries with comprehensive and aggressive prevention and control programmes that engaged with lab screening, counselling, and termination of pregnancy as a package.
Topics: Humans; Thalassemia; Pregnancy; Female; Mass Screening; Cost-Benefit Analysis; Prevalence; Prenatal Diagnosis
PubMed: 38817070
DOI: No ID Found -
The Medical Journal of Malaysia May 2024Thalassaemia is one of the major health problems in Malaysia. With safe blood transfusion regime, the lifespan of patients with transfusion-dependent thalassaemia (TDT)...
INTRODUCTION
Thalassaemia is one of the major health problems in Malaysia. With safe blood transfusion regime, the lifespan of patients with transfusion-dependent thalassaemia (TDT) has improved but at the cost of a higher risk of developing endocrine disorders. It is crucial for us to monitor the iron overload to prevent end organ damage. This study aims to evaluate the iron burden and prevalence of endocrinopathies in patients with TDT in Sarawak.
MATERIALS AND METHODS
This retrospective cohort study was conducted between January 2020 to June 2020 in six government hospitals in Sarawak. A total of 89 patients with TDT, aged 10 years and above, were recruited.
RESULTS
Out of the 89 patients, there were 54 males (60.7%) and 35 females (39.3%) with a median age of 21 years (range 10.0-65.0). Sixty-seven (75.3%) patients had betathalassaemia major and 15 (16.9%) patients had haemoglobin E beta-thalassaemia (HbE beta-thalassaemia), remaining seven patients had other genotypes. Thirty-one (34.8%) patients had mean serum ferritin 2500ng/ml and above, and 44 (66.6%) had liver iron concentration (LIC) ≥7mg/g. The prevalence of endocrine disorders in our cohort was 69.7%. The most common endocrinopathies were short stature (n=46, 51.7%), followed by hypogonadism (n=24, 26.9%), delayed puberty (n=23, 25.8%), hypothyroidism (n=10, 11.2%), diabetes mellitus (n=9, 10.1%), impaired glucose tolerance (n=6, 6.7%) and hypoparathyroidism (n=3, 3.3%). Endocrinopathies were significantly associated with age (p=0.01), age at initiating regular blood transfusion (p<0.01) and duration of regular blood transfusion (p<0.01).
CONCLUSION
Our data shows that the development of endocrinopathies in TDT can be time dependent. Early detection of endocrine-related complications and prompt treatment with iron chelation therapy are important to improve morbidity and mortality. A multidisciplinary approach with good patient-doctor collaboration is the key to improving patient care in our settings.
Topics: Humans; Male; Retrospective Studies; Female; Malaysia; Adult; Child; Adolescent; Endocrine System Diseases; Young Adult; Thalassemia; Blood Transfusion; Middle Aged; Iron Overload; Prevalence; Aged; Iron
PubMed: 38817060
DOI: No ID Found -
Journal of Clinical Laboratory Analysis May 2024In this study, we investigated how splenectomy affects natural killer (NK) cell levels in patients with β-thalassemia major (β-TM).
AIM
In this study, we investigated how splenectomy affects natural killer (NK) cell levels in patients with β-thalassemia major (β-TM).
MATERIALS AND METHODS
Seventy patients with β-TM (38 splenectomized and 32 nonsplenectomized) and 25 healthy controls were included in this study. The hemogram parameters, ferritin, T lymphocyte, T-helper cell, T-suppressor cell, and NK cell numbers, were measured.
RESULTS
The T lymphocyte (CD3) level was found to be significantly higher in the patient group (p < 0.05). CD3/CD4 T lymphocytes were detected to be significantly higher in the patient group (p < 0.05). Although the CD3/CD4 T lymphocyte level was significantly higher in the nonsplenectomy group (p < 0.05), this was not the case in the splenectomy group. When the patient and control groups were compared, no significant difference was detected regarding CD3/CD8 T lymphocyte levels. CD3/CD16CD56 NK cell level was found to be significantly lower only in the splenectomy group than in the control group (p < 0.05). We found that there was a significant negative correlation between serum ferritin levels and both total lymphocyte (r = -0.617) and CD3 lymphocyte (r = -0.718) levels in the control group (p < 0.05). A significant negative correlation was detected between serum ferritin levels and CD3/CD16CD56 NK cell levels in the patient group (r = -0.410) (p < 0.05).
CONCLUSION
Splenectomy reduces NK cell levels in patients with β-TM. The negative relationship between ferritin levels and NK cells indicates that ferritin levels should be kept under control in patients with β-TM.
Topics: Humans; beta-Thalassemia; Splenectomy; Killer Cells, Natural; Male; Female; Adult; Case-Control Studies; Adolescent; Young Adult; Child; Ferritins; Lymphocyte Count
PubMed: 38814004
DOI: 10.1002/jcla.25046 -
Cureus Apr 2024The present case study examines an adult male of Greek descent diagnosed with the β-thalassemia trait during adulthood. The individual had psychiatric symptoms after...
The present case study examines an adult male of Greek descent diagnosed with the β-thalassemia trait during adulthood. The individual had psychiatric symptoms after the sudden cessation of anabolic steroid injections, which had been utilized improperly for nearly a decade. Furthermore, the administration of an increased dosage of bupropion in conjunction with the absence of treatment for manic symptoms may have contributed to worsening his illness. The individual's contraction of COVID-19 and the subsequent discontinuation of steroid medication resulted in a notable psychosis despite the absence of any prior psychiatric conditions. Following initial therapy and hospitalization, which resulted in a stable discharge, the patient experienced a relapse due to later alterations in his medication. Consequently, this relapse necessitated a second admission to the hospital. The patient's therapeutic regimen consisted of a concurrent administration of lithium, antipsychotics, and an intense program of psychiatric counseling. This particular example highlights the distinctive connection between β-thalassemia and bipolar disorder, focusing on a Greek patient with the β-thalassemia trait and a genetic predisposition to mood disorders. The present study provides a comprehensive narrative of the patient's clinical progression, with particular emphasis on the impact of the β-thalassemia trait on his mental health trajectory. This observation highlights the limited availability of data about the interplay between hemoglobinopathies and mood disorders, hence emphasizing the need for further research in this niche intersection of genetics and psychiatry.
PubMed: 38813331
DOI: 10.7759/cureus.59303 -
Heliyon May 2024This study explored the frequency of lipid-lowering drug use in the thalassemia population and investigated the association of thalassemia, hemoglobinopathies, and serum...
This study explored the frequency of lipid-lowering drug use in the thalassemia population and investigated the association of thalassemia, hemoglobinopathies, and serum 25(OH)D levels with lipid profile and red blood cell parameters. A combination of cross-sectional and community-based studies was conducted with 615 participants from the southern Thai population. Thalassemia and hemoglobinopathies were diagnosed using hemoglobin analysis and polymerase chain reaction-based methods to genotype globin genes. Biochemical parameters such as lipid profile, fasting blood sugar (FBS), and serum 25(OH)D levels were assessed using standard enzymatic methods and electrochemiluminescence immunoassays. Differences in the means of hematological and biochemical parameters between the thalassemia and non-thalassemia groups were compared and analyzed. A significantly lower frequency of lipid-lowering drug use was observed in the thalassemia group. Thalassemia, with clearly defined abnormalities in red blood cells, is associated with a 4.72-fold decreased risk of taking lipid-lowering drugs. Among thalassemia participants, the total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels were significantly lower than those in non-thalassemia participants. The prevalence of hypovitaminosis D in carriers of thalassemia and/or hemoglobinopathies in the southern Thai population was 53 % in females and 21 % in males. The highest lipid profile was observed in samples without thalassemia and hypovitaminosis D. The genetics of thalassemia and hemoglobinopathies with obviously abnormal red blood cells could explain the variable lipid levels, in addition to lipid metabolism-related genes and environmental factors. However, the effect of thalassemia on lipid levels in each population may differ according to its prevalence. A larger sample size is required to confirm this association, especially in countries with a high prevalence of thalassemia.
PubMed: 38813217
DOI: 10.1016/j.heliyon.2024.e31374 -
The New England Journal of Medicine May 2024
Topics: Humans; Female; Adult; Anemia, Sickle Cell; Pain
PubMed: 38810189
DOI: 10.1056/NEJMimc2312285 -
Pediatric Blood & Cancer Aug 2024Individuals with sickle cell disease (SCD) at increased risk for stroke should undergo annual stroke risk assessment using transcranial Doppler (TCD) screening between...
INTRODUCTION
Individuals with sickle cell disease (SCD) at increased risk for stroke should undergo annual stroke risk assessment using transcranial Doppler (TCD) screening between the ages of 2 and 16. Though this screening can significantly reduce morbidity associated with SCD, screening rates at Boston Children's Hospital (and nationwide) remain below the recommended 100% screening adherence rates.
METHODS
Three plan-do-study-act (PDSA) cycles were designed and implemented. The Specific, Measurable, Achievable, Relevant, and Time-Bound (SMART) aim of our quality improvement (QI) initiative was to sustainably increase the proportion of eligible patients receiving a TCD within 15 months of their last TCD to greater than 95%. An interrupted time series (ITS) analysis was performed, comparing TCD adherence rates from PDSA Cycle 1 to those from PDSA Cycles 2 and 3.
RESULTS
Mean TCD adherence increased across all three PDSA cycles, from a baseline of 67% in the first cycle (January 2015 to September 2020) to 92% in the third cycle (May 2021 to March 2023). In the ITS analysis of TCD adherence rates, there was a significant difference in the final TCD adherence rate achieved compared to the rate predicted, with a total estimated increase in adherence of 17.9% being attributable to the interventions from PDSA Cycles 2 and 3.
DISCUSSION
Although other QI initiatives had demonstrated ability to increase adherence to TCD screening for patients with SCD, this is the first QI project to collect data over such a prolonged period of time to demonstrate a sustained increase in screening rates throughout the intervention (an 8-year period).
Topics: Humans; Anemia, Sickle Cell; Ultrasonography, Doppler, Transcranial; Quality Improvement; Child; Female; Male; Adolescent; Child, Preschool; Stroke; Mass Screening; Follow-Up Studies; Prognosis
PubMed: 38809385
DOI: 10.1002/pbc.31088 -
Prenatal Diagnosis Jun 2024We evaluated fetal cardiovascular physiology and mode of cardiac failure in premature miniature piglets on a pumped artificial placenta (AP) circuit.
OBJECTIVES
We evaluated fetal cardiovascular physiology and mode of cardiac failure in premature miniature piglets on a pumped artificial placenta (AP) circuit.
METHODS
Fetal pigs were cannulated via the umbilical vessels and transitioned to an AP circuit composed of a centrifugal pump and neonatal oxygenator and maintained in a fluid-filled biobag. Echocardiographic studies were conducted to measure ventricular function, umbilical blood flow, and fluid status. In utero scans were used as control data.
RESULTS
AP fetuses (n = 13; 102±4d gestational age [term 115d]; 616 ± 139 g [g]; survival 46.4 ± 46.8 h) were tachycardic and hypertensive with initially supraphysiologic circuit flows. Increased myocardial wall thickness was observed. Signs of fetal hydrops were present in all piglets. Global longitudinal strain (GLS) measurements increased in the left ventricle (LV) after transition to the circuit. Right ventricle (RV) and LV strain rate decreased early during AP support compared with in utero measurements but recovered toward the end of the experiment. Fetuses supported for >24 h had similar RV GLS to in utero controls and significantly higher GLS compared to piglets surviving only up to 24 h.
CONCLUSIONS
Fetuses on a pump-supported AP circuit experienced an increase in afterload, and redistribution of blood flow between the AP and systemic circulations, associated with elevated end-diastolic filling pressures. This resulted in heart failure and hydrops. These preterm fetuses were unable to tolerate the hemodynamic changes associated with connection to the current AP circuit. To better mimic the physiology of the native placenta and preserve normal fetal cardiovascular physiology, further optimization of the circuit will be required.
Topics: Animals; Female; Swine; Pregnancy; Placenta; Echocardiography; Swine, Miniature; Artificial Organs; Heart Failure; Animals, Newborn; Cardiovascular Physiological Phenomena; Hydrops Fetalis
PubMed: 38809178
DOI: 10.1002/pd.6612 -
Revista Paulista de Pediatria : Orgao... 2024To estimate trends in mortality rate and average age of death, and identify sociodemographic factors associated with early death in patients with sickle cell disease...
OBJECTIVE
To estimate trends in mortality rate and average age of death, and identify sociodemographic factors associated with early death in patients with sickle cell disease (SCD).
METHODS
An ecological and cross-sectional study was conducted using data from the Mortality Information System. All deaths of patients residing in the state of São Paulo from 1996 to 2015 with at least one International Disease Code for SCD in any field of the death certificate were included. Simple linear regression was used to estimate trends. The Log-rank test and multiple Cox regression were used to identify factors associated with early death.
RESULTS
The age-standardized mortality rate per million inhabitants increased by 0.080 per year (R2=0.761; p<0.001). When the events were stratified by age at death, the increase was 0.108 per year for those occurring at age 20 years or older, (R2=0.789; p<0.001) and 0.023 per year for those occurring before age 20 years old (R2=0.188; p=0.056). The average age at death increased by 0.617 years (7.4 months) per year (R2=0.835; p<0.001). Sociodemographic factors associated with early death identified were male gender (hazard ratio - HR=1.30), white race (HR=1.16), death occurring in the hospital (HR=1.29), and living in the Greater São Paulo (HR=1.13).
CONCLUSIONS
The mortality rate and the average age of death in patients with SCD have increased over the last two decades. Sociodemographic factors such as gender, race, place of occurrence, and residence were found to be associated with early death.
Topics: Humans; Anemia, Sickle Cell; Brazil; Male; Female; Cross-Sectional Studies; Adolescent; Young Adult; Child; Infant; Child, Preschool; Adult; Sociodemographic Factors; Cause of Death; Mortality; Age Factors; Infant, Newborn; Middle Aged
PubMed: 38808868
DOI: 10.1590/1984-0462/2024/42/2023113