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1.
J Assoc Physicians India ; 69(11): 11-12, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34781613

RESUMO

Hb E-ß thalassemia is the most common form of hemoglobinopathy in Southeast Asia and eastern India. Iron overload resulting from blood transfusion and increased intestinal iron absorption promotes the formation of reactive oxygen species (ROS), leading to oxidative stress, organ dysfunction, and tissue damage. Of these, cardiovascular complications are the leading cause of mortality. Impaired endothelial function is a biomarker of vascular health in patients with cardiovascular risks. Therefore, assessment of endothelial function is a useful prognostic tool. In the present study, 60 E- ß thalassemia patients and 60 healthy, age, sex matched control subjects were taken. The mean hemoglobin and ferritin of thalassemic patients were 7.43gm/dl and 1032 mcg/dl respectively. The vascular health was compared by measuring flow-mediated vasodialation (FMD), arterial elastic parameters, and carotid intima-medial thickness (CIMT). There was lower FMD (7.49%) and higher CIMT (0.46mm) in thalassemic group than control (10.52 % and 0.36mm respectively) (p value< 0.05). Also arterial stiffness is elevated and arterial distensibility is lower in thalassemic patients than control. Among the thalassemic patients FMD or CIMT did not correlate with serum ferritin value. So, the E- ß thalassemia patients had poor vascular health and are at a higher risk of developing atherosclerosis and cardio-vascular complication than normal population. The vascular dysfunction does not correlate with serum ferritin value, so regular monitoring with Doppler study is required for early diagnosis of subclinical atherosclerosis in this group of patients. However the effects of chelation therapy, Hydroxyurea, or other targeted therapies needs to be validated by further study.


Assuntos
Sobrecarga de Ferro , Talassemia beta , Artérias Carótidas/diagnóstico por imagem , Espessura Intima-Media Carotídea , Ferritinas , Humanos , Talassemia beta/complicações , Talassemia beta/epidemiologia
2.
Clin Lab ; 67(10)2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-34655200

RESUMO

BACKGROUND: The periodic transfusion of red blood cells (RBCs) is an essential supportive therapy for beta-thalassemia and sickle cell anemia (SCA) patients. Nevertheless, this therapy can cause some adverse effects, such as RBC alloimmunization. This study aimed to determine the prevalence of RBC's alloimmunization and frequency of Rhesus (Rh) and Kell (K) antigens among SCA and beta-thalassemia patients in Al-Madinah region of Saudi Arabia. METHODS: A cross-sectional study was conducted on 137 multiple transfusion patients with SCA and beta-thalassemia, who attended two of the largest hospitals located in Al-Madinah, Saudi Arabia. Demographic and medical data were collected from medical files of patients. Blood samples were collected from patients and Rh and Kell typing were done. Also, antibody screening and identification tests were performed. RESULTS: There were 66 (48.18%) pediatric patients with mean age of 7.8 years, while adult patients were 71 (51.82%) with mean age of 24.5 years. RBC alloantibodies were found in 9 patients (6.57%), and the most frequent alloantibody was anti-K. Antigen e (99.05%) was the most common antigen, while the least common was the antigen K (3.81%). The association between age (pediatric and adult) and alloimmunization rates was insignificant. CONCLUSIONS: Although the RBC alloimmunization rate among SCD and beta-thalassemia patients in this study is low compared to other studies in Saudi Arabia and countries all over the world, it still warrants more attention. Phenotyping of donors/recipients' RBCs for K and Rh subgroups may reduce the risk of alloimmunization and increase the efficiency of blood transfusion.


Assuntos
Anemia Falciforme , Talassemia beta , Adulto , Anemia Falciforme/epidemiologia , Anemia Falciforme/terapia , Criança , Estudos Transversais , Eritrócitos , Humanos , Isoanticorpos , Prevalência , Arábia Saudita/epidemiologia , Adulto Jovem , Talassemia beta/epidemiologia , Talassemia beta/terapia
3.
Zhongguo Dang Dai Er Ke Za Zhi ; 23(8): 841-847, 2021 Aug 15.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-34511175

RESUMO

OBJECTIVES: To investigate the distribution of genotypes of thalassemia in children in Guangxi, China. METHODS: A total of 30 417 children with positive results of thalassemia screening in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2019 were enrolled. Single-tube multiplex PCR, agarose gel electrophoresis, and reverse dot blot hybridization technique were used for the detection of common α- and ß-thalassemia genes. Gap-PCR or gene sequence analysis was performed for 2 703 children suspected of rare thalassemia. RESULTS: Among the 30 417 children with positive results of thalassemia screening, 23 214 (76.32%) were diagnosed with thalassemia, and the detection rates of α-thalassemia, ß-thalassemia, and α-thalassemia with ß-thalassemia were 47.77%, 23.75%, and 4.80% respectively. A total of 13 types of α-thalassemia alleles (18 480 alleles in total) were detected, mainly --SEA (54.98%), including seven rare alleles, i.e., --THAI (0.43%), HKαα (0.02%), -α30 (0.01%), -α1.0 (0.01%), -α2.4 (0.01%), -α21.9 (0.01%), and HBA2:C272-279 del (0.01%). A total of 17 types of ß-thalassemia alleles (9 168 alleles in total) were detected, mainly CD41-42 (47.79%), followed by CD17 (25.53%), including three rare alleles, i.e., IVS-II-5 (0.02%), IVS-I-2 (0.01%), and Gγ(Aγδß)0 (0.01%). A total of 37 genotypes were detected in 14 531 children with α-thalassemia, among which the most common 6 genotypes were --SEA/αα (52.20%), -α3.7/αα (13.24%), αCSα/αα (7.52%), -α4.2 (6.06%), --SEA/-α3.7 (5.91%), and αWSα/αα (3.41%), accounting for 88.34%. A total of 49 genotypes were detected in 7 223 children with ß-thalassemia, among which the most common 6 genotypes were CD41-42/ßN (45.81%), CD17/ßN (24.30%), IVS-II-654/ßN (7.49%), -28/ßN (5.62%), CD71-72/ßN (4.42%), and CD26/ßN (3.94%), accounting for 91.13%. A total of 137 genotypes were detected in 1 460 children with both α- and ß-thalassemia, mainly --SEA/αα combined with CD41-42/ßN (14.17%) and CD17/ßN (8.35%). A total of 2 050 children were diagnosed with hemoglobin H disease (α0/α+), among whom 134 had ß-thalassemia heterozygote and 12 had Bart hydrops fetalis syndrome (--SEA/--SEA); 355 children were diagnosed with ß-thalassemia double heterozygote, and 128 were diagnosed with ß-thalassemia homozygote, including 93 children with α-thalassemia. CONCLUSIONS: There are diverse gene mutations and rich genotypes of thalassemia among children in Guangxi, and α-thalassemia is more common, with --SEA/αα as the major genotype. There is a high proportion of children with both α- and ß-thalassemia, and there are relatively high incidence rates of ß-thalassemia double heterozygote and homozygote (intermedia and major).


Assuntos
Talassemia alfa , Talassemia beta , Criança , China/epidemiologia , Genótipo , Heterozigoto , Humanos , Mutação , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/genética
4.
Rinsho Ketsueki ; 62(8): 914-921, 2021.
Artigo em Japonês | MEDLINE | ID: mdl-34497231

RESUMO

Thalassemia is caused by a reduced production of one globin chain due to a quantitative imbalance between the α-globin and non-α-globin chains that make up the hemoglobin. It is classified into α- and ß-thalassemia and characterized by microcytosis with polycythemia, and a Mentzer index of ≤13 aids in the diagnosis. In the genetic analysis of α-thalassemia, the Southeast Asian type was found to be the most common genetic subtype among Japanese and non-Japanese without a substantial difference. Conversely, the genetic analysis of ß-thalassemia revealed differences in the types and frequencies of mutations between Japanese individuals and foreigners living in Japan, with Japanese-specific mutations such as -31 A→G (TATA box). Acquired α-thalassemia exists in exceptional cases, and cases of myelodysplastic syndrome with acquired Hemoglobin H disease have been reported as α-thalassemia myelodysplastic syndrome. Recent trials using a novel therapeutic agent, luspatercept, for transfusion-dependent ß-thalassemia revealed that luspatercept safely and significantly reduces the transfusion volume.


Assuntos
Talassemia alfa , Talassemia beta , Transfusão de Sangue , Humanos , Japão/epidemiologia , Mutação , Talassemia alfa/diagnóstico , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/genética
5.
Transfusion ; 61(10): 2906-2917, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34505291

RESUMO

BACKGROUND: This study utilized a population-based claims database to identify patients with beta-thalassemia and evaluate associations between transfusion burden, healthcare resource utilization (HCRU), and complications. STUDY DESIGN AND METHODS: Taiwan's National Health Insurance Research Database was used to identify patients with beta-thalassemia (ICD-10 D56.1) in 2016. Patients with a beta-thalassemia claim in 2016 were indexed into the study at their first claim on or after January 1, 2001 in the dataset through to December 31, 2016 and followed until the end of study. During the follow-up period, red blood cell transfusion (RBCT) units, HCRU, iron chelation therapy use, and beta-thalassemia-related complications incidence were recorded. Patients were grouped into transfusion burden severity cohorts based on average number of RBCT units per 12 weeks during follow-up: 0 RBCT units, >0 to <6 RBCT units (mild), ≥6 to <12 RBCT units (moderate), and ≥12 RBCT units (severe). RESULTS: A total of 2984 patients were included with mean follow-up of 6.95 years. Of these, 1616 (54.2%) patients had no claims for RBCT units, 1112 (37.3%) had claims for >0 to <6 RBCT units, 112 (3.8%) for ≥6 to <12 RBCT units, and 144 (4.8%) for ≥12 RBCT units per 12 weeks. Transfused patients had significantly more all-cause HCRU and iron chelation therapy compared with non-transfused patients during follow-up. Thalassemia-related HCRU and risk of liver, endocrine, cardiac, and renal complications were significantly and positively correlated with increases of RBCT units. DISCUSSION: Clinical and healthcare resource burden of patients with beta-thalassemia is closely related to transfusion burden.


Assuntos
Transfusão de Sangue , Talassemia beta/terapia , Adulto , Transfusão de Eritrócitos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aceitação pelo Paciente de Cuidados de Saúde , Estudos Retrospectivos , Taiwan/epidemiologia , Adulto Jovem , Talassemia beta/epidemiologia
6.
Ideggyogy Sz ; 74(7-08): 266-272, 2021 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-34370411

RESUMO

Background and purpose: To investigate the quality of sleep and the presence of Restless Legs Syndrome (RLS) in the Turkish population with ß-thalassemia major (TM). The second aim was to assess the risk factors of RLS in TM adults. Methods: The study sample comprised of 121 patients at least 18 years old with TM. The patients' socio-demographic information, body mass indexes (BMI), current medications, laboratory data were recorded. The patients were asked if they had a history of chronic kidney disease, diabetes mellitus (DM), and polyneuropathy. Restless legs syndrome was diagnosed according to the International Restless Legs Syndrome Study Group criteria. The sleep quality of the patients was assessed using the Pittsburgh Sleep Quality Index (PSQI) scale. The Epworth Sleepiness Scale (ESS) was used to assess excessive daytime sleepiness in the patients. Results: The median age of the patients was 25 years (range 18-52). The mean BMI was 21.49±2.5 (R 14-26.5) for all patients. The prevalence of RLS was 5% in TM adult patients. The TM patients with RLS had no major complications of TM. The median PSQI global score of all patients was 3. Twenty-two (18.1%) patients had poor sleep quality. The reason for poor sleep quality was RLS symptoms in four patients (18%). There was no significant association between PSQI total score and blood parameters of the patients. Twelve (9.9%) patients had ESS scores greater than 10, which indicates excessive daytime sleepiness. Conclusion: The prevalence of RLS in TM patients was similar to that of the general Turkish adult population. These results indicate that RLS may occur in patients with TM, although they had a high level of serum ferritin.


Assuntos
Síndrome das Pernas Inquietas , Talassemia beta , Adolescente , Adulto , Humanos , Pessoa de Meia-Idade , Prevalência , Síndrome das Pernas Inquietas/epidemiologia , Índice de Gravidade de Doença , Sono , Adulto Jovem , Talassemia beta/complicações , Talassemia beta/epidemiologia
9.
Int J Hematol ; 114(3): 307-318, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34195938

RESUMO

This study investigated prenatal diagnosis of α-thalassemia and ß-thalassemia in 3049 families in 18 regions of Hainan Province. Molecular diagnosis was performed in 3049 couples with thalassemia in Hainan Province. Genomic DNA was extracted from peripheral blood of the couples and villus, amniotic fluid, or cord blood of fetuses. DNA-based diagnosis was performed using polymerase chain reaction. The most commonly detected mutation for α-thalassemia was- SEA/αα (31.53%), followed by - α4.2/αα (11.15%) and - α3.7/αα (11.02%). The most common mutation for ß-thalassemia was CD41/42 (30.27%), followed by - 28 (2.56%). Prevalence was highest in the coastal regions and lowest in the Wenchang, Lingao, and Ding'an regions. We also found that the most common gene mutations in Han people and other minority groups were not homogeneous. Prenatal diagnosis showed 556 normal fetuses, 116 with α-thalassemia hydrops, and 134 with ß-thalassemia major. Our findings provide important information for clinical genetic counseling regarding prenatal diagnosis for thalassemia major in Hainan Province.


Assuntos
Mutação , alfa-Globinas/genética , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Globinas beta/genética , Talassemia beta/epidemiologia , Talassemia beta/genética , China/epidemiologia , Feminino , Genótipo , Geografia Médica , Heterozigoto , Humanos , Masculino , Gravidez , Prevalência , Talassemia alfa/diagnóstico , Talassemia beta/diagnóstico
10.
Arch Virol ; 166(10): 2703-2710, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34275067

RESUMO

Occult hepatitis C virus infection (OCI) is defined by the presence of HCV RNA in peripheral blood mononuclear cells (PBMCs) and liver tissue cells despite the absence of HCV RNA in plasma. Currently, OCI is classified into two types: seropositive OCI (anti-HCV positive and serum HCV RNA negative) and seronegative OCI (anti-HCV and serum HCV RNA negative). Beta-thalassemia is described as a blood disorder that decreases the synthesis of hemoglobin. Repeated blood transfusion is the standard treatment for patients with beta-thalassemia major (BTM), and this increases the risk of exposure to infectious agents. The aim of this study was to investigate the prevalence of OCI among BTM patients. Plasma and PBMCs were collected from 90 BTM patients who were referred to Shafa Hospital in the city of Ahvaz and were screened for HCV antibody using a commercial ELISA kit as the first step. Next, nested RT-PCR was performed on extracts of plasma and PBMCs. HCV RNA from positive PBMCs was sequenced, the sequences were aligned, and a phylogenetic tree was constructed to determine their relationship to reference sequences retrieved from the GenBank database. Seventy-nine out of 90 patients (87.8%) were negative for HCV Ab (seronegative), while 11 patients (12.2%) were seropositive. HCV RNA was found in PBMCs of four patients (66.7%) who were negative for HCV Ab (seronegative) and two patients (33.3%) who were positive for HCV Ab (seropositive). HCV RNA was not detected in plasma samples from these six patients. Six out of 90 BTM patients (6.7%) had OCI. HCV genotyping revealed that all six patients were infected with HCV subtype 3a. We found a high frequency of OCI in BTM patients, which warrants more attention, considering the importance of this infection. Further studies are needed to determine the actual prevalence of OCI in BTM patients in Iran.


Assuntos
Hepacivirus/isolamento & purificação , Hepatite C/epidemiologia , Talassemia beta/epidemiologia , Adolescente , Adulto , Estudos Transversais , Feminino , Genótipo , Hepacivirus/classificação , Hepacivirus/genética , Hepatite C/virologia , Anticorpos Anti-Hepatite C/sangue , Humanos , Irã (Geográfico)/epidemiologia , Leucócitos Mononucleares/virologia , Masculino , Filogenia , Prevalência , RNA Viral/genética , RNA Viral/isolamento & purificação , Adulto Jovem , Talassemia beta/virologia
11.
Ann Glob Health ; 87(1): 48, 2021 06 08.
Artigo em Inglês | MEDLINE | ID: mdl-34164261

RESUMO

Background: Blood transfusion is a traditional treatment for ß-thalassemia (ß-thal) that improves the patients' anemia and lifespan, but it may lead to iron overload in parenchymal tissue organs and endocrine glands that cause their dysfunctions as the iron regulatory system can't excrete excess iron from the bloodstream. Objective: To evaluate the prevalence of iron-related complications (short stature, growth retardation, and growth hormone deficiency) in ß-thalassemia major (ßTM) patients. Methods: We performed an electronic search in PubMed, Scopus, and Web of Sciences to evaluate the prevalence of growth hormone impairment in ß-thalassemia major (ßTM) patients worldwide. Qualities of eligible studies were assessed by the Joanna Briggs Institute checklist for the prevalence study. We used Comprehensive Meta-Analysis (Version 2) to calculate the event rate with 95% CIs, using a random-effects model for all analyses. Findings: Seventy-four studies were included from five continents between 1978 and 2019; 70.27% (Asia), 16.21% (Europe), 6.75% (Africa), 2.70% (America), 1.35% (Oceania), and 2.70% (Multicenter). The overall mean age of the participants was about 14 years. The pooled prevalence of short stature (ST) was 48.9% (95% CI 35.3-62.6) and in male was higher than female (61.9%, 95% CI 53.4-69.7 vs. 50.9%, CI 41.8-59.9). The pooled prevalence of growth retardation (GR) was 41.1% and in male was higher than in female (51.6%, 95% CI 17.8-84 vs. 33.1%, CI 9.4-70.2). The pooled prevalence of growth hormone deficiency (GHD) was 26.6% (95% CI 16-40.8). Conclusion: Our study revealed that near half of thalassemia patients suffer from growth impairments. However, regular evaluation of serum ferritin levels, close monitoring in a proper institute, suitable and acceptable treatment methods besides regular chelation therapy could significantly reduce the patients' complications.


Assuntos
Nanismo , Doenças do Sistema Endócrino , Sobrecarga de Ferro/complicações , Talassemia beta , Adolescente , Transfusão de Sangue , Estatura , Feminino , Humanos , Masculino , Talassemia beta/complicações , Talassemia beta/epidemiologia , Talassemia beta/terapia
12.
J Pediatr Hematol Oncol ; 43(6): e754-e758, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34133385

RESUMO

BACKGROUND: The survival of thalassemia patients has increased, but there are still challenges regarding the complications of cardiac or endocrine dysfunction and the psychological problems of these patients. Many patients with chronic disease, including thalassemia major (TM), have shown a reduction in communication skills and self-efficacy. OBJECTIVE: The aim of this study was to investigate the self-efficacy among TM patients and determine the related factors among them. MATERIALS AND METHODS: This research was a cross-sectional study and consisted of 40 TM patients 7 to 19 years of age. The control group was 80 nonthalassemia patients. Data were gathered using a 2-part questionnaire. The collected data was entered into the SPSS (version 21) and were analyzed using descriptive and analytical statistics (Mann-Whitney U, and multiple linear regression model). RESULTS: According to the Mann-Whitney test, there was no significant difference between self-efficacy score among the affected and nonthalassemia groups (P=0.62). According to the regression model, only, the frequency of monthly blood transfusion was significantly correlated with self-efficacy score, so that by 1 U increase in frequency of monthly blood transfusion, we will have 11 U decrease in self-efficacy score (ß=-11, P=0.011). CONCLUSIONS: The results of this study showed that the rate of self-efficacy in children with thalassemia was moderate (52.5%) to good (45%). The allocation of a specific ward, easy access to health care staff, and social support for patients may seem to justify the moderate to good self-efficacy in these patients.


Assuntos
Autoeficácia , Talassemia beta , Adolescente , Adulto , Transfusão de Sangue , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Adulto Jovem , Talassemia beta/epidemiologia , Talassemia beta/terapia
13.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 29(3): 860-864, 2021 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-34105484

RESUMO

OBJECTIVE: To analyze the gene defect types and distribution characteristics of α- and ß-thalassemia in Lingui District of Guilin City, Guangxi, so as to provide scientific basis for genetic consultation and prevention measures. METHODS: A total of 6 496 suspected cases for screening the thalassemia during physical examination, premarital examination, pregnancy examination and hospitalization in the Second Affiliated Hospital of Guilin Medical University from May 2016 to October 2019 were analyzed. Gap-PCR, PCR-RDB and DNA sequencing techniques were used to detect the types and constituent ratios of gene defects in α- and ß-thalassemia positive cases. RESULTS: Among 6 496 suspected patients, 1 363 were thalassemia carriers, the total positive rate was 20.98%. There were 677 cases of single-gene deletion and 26 cases of double-gene detetion on the deletional α-thalassemia, 115 cases of non-deletion α-thalassemia mutation and 4 cases of deletion plus mutation. The positive rate of α-thalassemia was 12.66%. There were 11 gene abnormalities for α-thalassemia, of which --SEA/αα (50.36%) was the most common, followed by -α3.7/αα (23.84%); the main α-gene mutation was ααCS (6.93%). There were 514 ß-thalassemia gene carriers, with a positive rate of 7.93%. In 12 types of ß-gene mutations, CD41-42 (-TTCT) (55.64%) was the most common, followed by CD17 (A→T) (20.23%). There were 25 cases of double heterozygous α and ß thalassemia (0.39%), of which -α3.7/ßCD17 (24%) and --SEA/ß41-42 (16%) were numerically dominant. Two of rare thalassemia genotypes were identified by sequencing, which were heterozygous mutations of Chinese Hong Kong type α thalassemia (HKαα/αα or HKαα/-α3.7) and ß gene mutations IVS-I (-2) or codon30 (A→G) ß0, respectively. CONCLUSION: Lingui district of Guilin city is a high incidence area of thalassemia. The mutation rate of α-thalassemia --SEA/αα type deletion is relatively high, followed by that of the right deletion type (-α3.7/αα). CD41-42 (-TTCT) has the highest mutation rate in ß-thalassemia, followed by CD17(A→T). The results of this study provide reference data for the regional screening, diagnosis and treatment of thalassemia and eugenics.


Assuntos
Talassemia alfa , Talassemia beta , China/epidemiologia , Feminino , Genótipo , Heterozigoto , Humanos , Mutação , Gravidez , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/epidemiologia , Talassemia beta/genética
15.
Biomed Res Int ; 2021: 5560319, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33954177

RESUMO

Background: Iron overload in severe ß-thalassemia is a serious complication that occurs during the course of the disease. Information about the iron status during initial illness with ß-thalassemia major seemed to be limited. This study is aimed at analyzing iron status, serum hepcidin, and growth differentiation factor 15 (GDF15) levels in newly diagnosed ß-thalassemia major. Methods: A case-control study was performed at Dr. Hasan Sadikin General Hospital, which included 41 children with newly diagnosed ß-thalassemia major. Age- and sex-matched controls were enrolled. The subjects had no blood transfusion, had normal liver function, and had no sign of inflammation. The groups were compared in terms of the levels of hemoglobin (Hb), serum ferritin (SF), transferrin saturation (TS), serum hepcidin, and GDF15 as iron homeostasis parameters. Results: Of the 41 newly diagnosed ß-thalassemia major patients, those who were less than 24 months old had significantly lower median Hb levels than controls (5.0 vs. 11.7 g/dL, P < 0.001). The median SF and TS levels were significantly higher than those in controls (315.0 vs. 29.0 ng/mL, P < 0.001; 70.6 vs. 16.5%, P < 0.001), and median hepcidin was at the normal limit, but the value was higher in patients (251.0 vs. 123.1 ng/mL, P < 0.001). The median GDF15 level was significantly higher in patients (2,095.3 vs. 342.4 pg/mL, P < 0.001). There was a positive correlation between SF-TS, SF-hepcidin, TS-hepcidin, SF-GDF15, TS-GDF15, and hepcidin-GDF15 (P < 0.001). Conclusion: In newly diagnosed ß-thalassemia major, an increase in iron status occurred. This may be caused by increased iron absorption due to massive erythropoietic activity, characterized by an increase in GDF15 levels, which does not cause hepcidin suppression. The iron homeostasis response seems to be physiologically indicated by a tendency to increase hepcidin levels.


Assuntos
Eritropoese/fisiologia , Ferro/sangue , Talassemia beta , Estudos de Casos e Controles , Pré-Escolar , Feminino , Ferritinas/sangue , Fator 15 de Diferenciação de Crescimento/sangue , Hepcidinas/sangue , Humanos , Lactente , Recém-Nascido , Ferro/metabolismo , Masculino , Transferrina/análise , Talassemia beta/sangue , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
16.
Ann Hematol ; 100(6): 1429-1438, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33851260

RESUMO

Thalassemia is a common genetic disorder. We aimed to present thalassemia mutation data that covers a period of 7 years from the Mediterranean region of Turkey by comparing with hemoglobin indices and to contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. In this study, in which a retrospective archive was scanned, the cases were first grouped as α and ß thalassemia, and then ß thalassemia mutations were examined in a total of 5 groups as UTR-Pro, Codon, IVS, ß0, and ß+. We have reached the family of the proband that analyzed their Hb indices and genetic mutation. All mutations were statistically compared with Hb indices, HbF, and HbA2. We have identified two new ß thalassemia mutations that have the feature of not being defined previously [HBB:C*62 A>G. (3'UTR+1536 A>G) and HBB:C*1 G>A (3'UTR+1475 G>A)]. The most commonly encountered 23 mutations account for 74.7% of all mutations which is unlike the literature. In the ß thalassemia group, 73 different mutations were detected. The most common ß thalassemia mutation was HBB: c.93-21 G>A (IVS I-110 G>A) with a frequency of 19.72%. A statistically significant difference was found when comparing the mutation groups with Hb indices. We think that it may be useful to evaluate the mutations we have newly identified too together with the Hb indices especially in evaluating the carriers of thalassemia and it will contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly.


Assuntos
Polimorfismo de Nucleotídeo Único , Talassemia alfa/genética , Globinas beta/genética , Talassemia beta/genética , Regiões 3' não Traduzidas , Adolescente , Adulto , Feminino , Humanos , Masculino , Região do Mediterrâneo/epidemiologia , Mutação , Taxa de Mutação , Mutação Puntual , Estudos Retrospectivos , Turquia/epidemiologia , Adulto Jovem , Talassemia alfa/epidemiologia , Talassemia beta/epidemiologia
18.
Graefes Arch Clin Exp Ophthalmol ; 259(9): 2633-2641, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33738624

RESUMO

PURPOSE: To investigate retinal changes in ß-thalassemia major patients and identify their association with systemic risk factors. METHODS: In this prospective study, 120 ß-thalassemia major patients received complete ophthalmic examinations (best-corrected visual acuity, contrast sensitivity, color vision, and indirect ophthalmoscopy) and retinal imaging using color fundus photography and fundus autofluorescence imaging. Patients were grouped according to the presence of thalassemia-related retinal changes. The association between systemic risk factors (age, type and duration of iron chelator use, history of splenectomy, hemoglobin level, and ferritin level) and thalassemia-related retinal changes was investigated using logistic regression analysis. RESULTS: Thalassemia-related retinal changes were identified in 36.7% of patients. Several distinct retinal changes were observed, including retinal refractile bodies in 10% of patients and retinal hemorrhage in 5.8% of patients. Fundus autofluorescence imaging showed abnormal patterns in 36.3% of patients with thalassemia-related retinal changes and 18.4% of patients without thalassemia-related retinal changes. Age (odds ratio [OR] = 1.10, 95% confidence interval [CI] 1.03-1.18) and ferritin level (OR 1.16, 95% CI 1.01-1.33) were associated with thalassemia-related retinal changes. CONCLUSION: Novel retinal changes were observed in ß-thalassemia major patients. This study identified older age and higher ferritin level as risk factors for thalassemia-related retinal changes.


Assuntos
Talassemia beta , Idoso , Ferritinas , Humanos , Estudos Prospectivos , Retina , Fatores de Risco , Talassemia beta/complicações , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
19.
Blood Cells Mol Dis ; 88: 102544, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33610115

RESUMO

INTRODUCTION: Hemoglobin (Hb)-F inducers are known to improve Hb level and transfusion dependence in thalassemia. This pilot study was conducted to assess the efficacy and safety of Hb-F inducer thalidomide compared to hydroxyurea (HU) in Hb E-ß thalassemia patients. METHODS: This was a prospective interventional single-centre study with 45 Hb E-beta thalassemia patients equally divided into group-I (thalidomide+folic acid), group-II (HU + folic acid) and group-III (folic acid). Response was assessed at various time intervals with 12-months follow up period. Primary end points were increment in Hb, Hb-F level and improvement in transfusion requirement; secondary end point were tolerability and safety. RESULTS: There was 100% responder (R: Hb-increment ≥1 g/dl) in group-I with 66.67% major responder (MaR: Hb-increment ≥2 g/dl), while there were 40% and 0% responder in group-II and III respectively. Hb-increment was significantly (p-value <0.0001) better in thalidomide arm compared to HU. The Hb-increment was attributable to both increase in Hb-F levels and reduction in ineffective erythropoiesis in thalidomide arm. Transfusion reduction was significantly better in group-I compared to group-II (100% vs 34%). No severe adverse effects was reported by patients of any group. CONCLUSION: Thalidomide showed a persistent significant Hb-increment and transfusion independence in Hb E-ß thalassemia patients compared to HU.


Assuntos
Antidrepanocíticos/uso terapêutico , Hidroxiureia/uso terapêutico , Imunossupressores/uso terapêutico , Talidomida/uso terapêutico , Talassemia beta/tratamento farmacológico , Adolescente , Adulto , Antidrepanocíticos/efeitos adversos , Criança , Feminino , Hemoglobina E/análise , Hemoglobinas/análise , Humanos , Hidroxiureia/efeitos adversos , Imunossupressores/efeitos adversos , Índia/epidemiologia , Masculino , Projetos Piloto , Estudos Prospectivos , Centros de Atenção Terciária , Talidomida/efeitos adversos , Adulto Jovem , Talassemia beta/sangue , Talassemia beta/epidemiologia
20.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 29(1): 198-202, 2021 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-33554819

RESUMO

OBJECTIVE: To investigate the screening of ß-thalassemia among newborns in Wuhan region, so as to explore the influencing factors of Hb A in dried blood spot. METHODS: Concentrations of Hb A,Hb A2,Hb F in the dried blood spots collected from 99 275 neonates in Wuhan region were analyzed by Sebia capillary electrophoresis. The screening result of ß-thalassemia was interpretated accroding to the ratio of each group, the suspicious ß-thalassemia newborns were recalled and the gene of thalassemia in those newborns was checked. RESULTS: Among 99 275 newborns, 1 408 positive patients were found, and the positive rate of screening was 1.41%. A total of 350 patients with gene mutation were found among 709 ß-thalassemia suspicious patients. There were significantly statistical differences of positive predictive value among Hb A levels in different groups and there were also significantly statistical differences of positive predictive values among gestational weeks in different groups. No significantly statistical differences were observed among different genetic defects and phenotypes of heterozygous ß-thalassemia in Hb A concentrations. Postnatal day and gestational age were significantly and positively associated with Hb A concentrations. CONCLUSION: The capillary electrophoresis is an effective screening method for ß-thalassemia of full-term neonate. Postnatal day and gestational age is associated with the pencentage of Hb A.


Assuntos
Talassemia , Talassemia beta , Eletroforese Capilar , Humanos , Recém-Nascido , Programas de Rastreamento , Mutação , Talassemia beta/epidemiologia , Talassemia beta/genética
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