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BMC Public Health May 2024Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a...
BACKGROUND
Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a collection of inherited blood disorders that impact millions globally, with a predominant 75% occurrence in the sub-Saharan region. With increasing burden of SCD on the continent amidst a cost effective prevention method, no study has systematically reviewed or presented meta-analytic uptake or practice of premarital sickle cell trait screening.
METHODS
This review systematically explored the uptake or practice of premarital genotype screening in Africa. We searched PubMed and Scopus databases for African studies on premarital screening for sickle cell traits.
RESULTS
Our results indicate that the pooled uptake of premarital sickle cell trait screening in Africa is 47.82% (95% CI: [46.53-49.11]; I: 98.95% [98.74-99.13]). Our review observed, a significant relationship between the awareness of sickle cell disease and the uptake of genotype screening; F(1, 13) = 12.04, p = 0.004). The model explained approximately 48.08% of the variation in genotype screening (R² = 0.4808) and predicted a 0.729 increase in the likelihood of genotype screening uptake for every unit rise in sickle cell disease awareness (β = 0.729, p = 0.004). Additionally, Pearson correlation (r = 0.6934) indicated a moderately strong positive correlation between the two variables.
CONCLUSION
With over 75% of the global burden of sickle cell disease domiciled in Africa, the continent cannot overlook the cost of hemoglobinopathies. The uptake of sickle cell traits screening is suboptimal across the continent. To achieve the mandate of sustainable development goal number (3); to end preventable deaths of newborns and children under 5 years of age by 2030, there is need to intensify campaigns on premarital genetic screening through education and other health promotion tools.
PubMed: 38822327
DOI: 10.1186/s12889-024-19001-y -
NeoReviews Jun 2024
Topics: Humans; Female; Abnormalities, Multiple; Hematologic Diseases; Vestibular Diseases; Face; Hydrops Fetalis; Pregnancy; Heart Defects, Congenital; Ultrasonography, Prenatal; Adult
PubMed: 38821912
DOI: 10.1542/neo.25-6-e385 -
Blood Cells, Molecules & Diseases May 2024We conducted a retrospective cohort study on 663 transfusion-dependent β-thalassemia patients receiving the same iron chelation monotherapy with deferoxamine,...
Differential effects of iron chelators on iron burden and long-term morbidity and mortality outcomes in a large cohort of transfusion-dependent β-thalassemia patients who remained on the same monotherapy over 10 years.
We conducted a retrospective cohort study on 663 transfusion-dependent β-thalassemia patients receiving the same iron chelation monotherapy with deferoxamine, deferiprone, or deferasirox for up to 10 years (median age 31.8 years, 49.9 % females). Patients on all three iron chelators had a steady and significant decline in serum ferritin over the 10 years (median deferoxamine: -170.7 ng/mL, P = 0.049, deferiprone: -236.7 ng/mL, P = 0.001; deferasirox: -323.7 ng/mL, P < 0.001) yet had no significant change in liver iron concentration or cardiac T2*; while noting that patients generally had low hepatic and cardiac iron levels at study start. Median absolute, relative, and normalized changes were generally comparable between the three iron chelators. Patients receiving deferasirox had the highest morbidity and mortality-free survival probability among the three chelators, although the difference was only statistically significant when compared with deferoxamine (P = 0.037). On multivariate Cox regression analysis, there was no significant association between iron chelator type and the composite outcome of morbidity or mortality. In a real-world setting, there is comparable long-term iron chelation effectiveness between the three available iron chelators for patients with mild-to-moderate iron overload.
PubMed: 38820707
DOI: 10.1016/j.bcmd.2024.102859 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Jun 2024To explore the distribution and hematological characteristics of rare thalassemia-associated mutations in Chenzhou region of Hunan Province with an aim to provide a...
OBJECTIVE
To explore the distribution and hematological characteristics of rare thalassemia-associated mutations in Chenzhou region of Hunan Province with an aim to provide a basis for genetic counseling and effective prevention.
METHODS
A total of 37 370 individuals enrolled from January 2015 to December 2021 were screened by routine blood test and hemoglobin electrophoresis. The genotypes were determined with high-throughput sequencing.
RESULTS
A total of 8 455 thalassemia mutations (including 185 rare ones) were detected, which had involved 27 mutational types. Rare type α-Thalassemia --THAI and CD31 (AGG>AAG) have the typical microcytic hypochromic hematological features, whilst SEA-HPFH, CD14 (CTG>-TG), CD37 (TGG>TAG), -90(C>T), Codon 15 (G>A), IVS-I-128 (T>G), CD86 (GCC>GC-) and Chinese Gγ+(Aγδβ)0 had typical microcytic hypochromic and β-thalassemia-associated hematological features of elevated HbA2 or HbF. In addition, the -50(G>A)heterozygotes of β-thalassemia had normal or slightly decreased MCV and MCH without an increase in HbA2.
CONCLUSION
Various forms of thalassemia-associated mutations have been identified in the Chenzhou region of Hunan Province. Above finding has facilitated development of preventive and control strategies for thalassemia as well as birth health programs.
Topics: Humans; Mutation; China; Female; Male; Adult; Thalassemia; alpha-Thalassemia; Young Adult; Adolescent; Child; Genotype; beta-Thalassemia; Child, Preschool; Middle Aged
PubMed: 38818555
DOI: 10.3760/cma.j.cn511374-20230210-00065 -
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