Thalassemia Carriers Research Articles

Evaluating Thalassemia Awareness in Academic Environments: A Comparative Study among Medical and Non-medical Students

Thalassemia is a very common hemoglobinopathy that is present worldwide. When one of alpha and beta chains is not present in hemoglobin or is present in lesser amounts it causes thalassemia. 9 million population of Pakistan are carriers of thalassemia. 5% of the world’s cases of thalassemia are from Pakistan. This study is designed to check thalassemia awareness among medical and non-medical students. This was a cross-sectional study. 112 students were taken to answer the questionnaire through a non-random sampling technique. Out of the total participants, 57% were female respondents and 43% were male. Similarly, medical students were 58% and non-medical students were 42%. Of these, 81% medical and 57.1% of non-medical students knew that thalassemia is a genetic disorder. 64.5% of medical and 47.8% of non-medical students thought that there was a cure for thalassemia. Medical and non-medical students of 92% and 63.6% respectively, knew that thalassemia is treated with red blood cell exchange. 54.8% medical and 25% non-medical students knew that thalassemia is not contagious. It is concluded that medical students have more awareness of thalassemia than non-medical students. Medical students have more knowledge about the treatment and contagiousness of this disorder.

Genotype Analysis of Common and Rare Thalassemia in People of Reproductive Age in Huadu District, Guangzhou

To analyze the genotypes distribution of common and rare thalassemia in people of reproductive age in Huadu district of Guangzhou, enhance the database of thalassemia. Peripheral blood samples were collected for genotype analysis in Maternity and Child Health Hospital of Huadu District from January 2016 to October 2022. Gap-PCR and Reverse dot blot hybridization were used to detect common thalassemia genotypes. DNA sequencing was performed in samples suspected of rare genotypes. A total of 16 171 subjects were identified as thalassemia carriers, and the positive rate was 44.41% (16 171/36 412). The genotypes of 114 cases (0.31%) were rare. A total of 10 845 cases were identified as α-thalassemia carriers (29.78%), and --SEA/αα was the most common genotype in those people, followed by -α3.7/αα and -α4.2/αα. A total of 4 531 subjects were identified as common β-thalassemia carriers (12.44%). The most common β-thalassemia mutation in the population was β41-42./βN., followed by β654/βN. and β-28/βN.. A total of 681 subjects were identified as αβ thalassemia carriers (1.87%), among them --SEA/αα compounded with βCD41-42./βN. was the most common genotype. A total of 48 cases were identified as rare α-thalassemia carriers, 14 types of mutations, in which Fusion gene/αα was the most common. A total of 52 cases were identified as rare β-thalassemia carriers, 11 types of mutation, in which βSEA-HPFH/βN. was the most common. The thalassemia genotypes in Huadu district are complex and diverse. We should attach great importance to the detection of rare thalassemia genotypes.

Genetic Analysis of Thalassemia in Children in Liuzhou of Guangxi Zhuang Autonomous Region

To investigate the characteristics of thalassemia gene types in children in Liuzhou, Guangxi. A total of 822 children suspected thalassemia aged from 1 day to 14 years who were admitted to our hospital from January 2019 to April 2022 were collected. Gap-PCR and PCR combined with reverse dot blot hybridization were used to detect α- and β-thalassemia genes. Among 822 children, 561 thalassemia carriers were detected, with a detection rate of 68.25%. Among them, 303 cases were detected with α-thalassemia, and the most common genotype was --.SEA/αα (163 cases), followed by -α3.7/αα (37 cases) and αCSα/αα (26 cases), 44 cases with HbH disease. 240 cases were detected with β-thalassemia, with a detection rate of 29.20%, and the most common genotype was β.CD41-42/βN. (112 cases), followed by β.CD17/βN. (75 cases) and β IVS-II-654/βN. (11 cases), 11 cases with moderate to severe β-thalassemia. 18 cases were detected with αβ-thalassemia, with a detection rate of 2.19%, and --.SEA/αα complex β.CD41-42/βN. was the most common genotype (4 cases). In Zhuang and Han populations, the detection ratio of -α3.7α/αα in α-thalassemia was the same (both 12.50%). While, the other main types such as --.SEA/αα, αCSα/αα and -α4.2α/αα had certain differences. In β-thalassemia, CD41-42 and CD17 were the main genotypes detected in Han and Zhuang. In Liuzhou of Guangxi autonomous region, α-thalassemia is the main type in children, with a detection rate of 68.25%, and --.SEA/αα is the most common genotype in mild thalassemia, followed by β.CD41-42/βN.. The detection rate of moderate to severe α- and β-thalassemia is relatively high. There are certain differences in the distribution of thalassemia among different ethnic groups.

Mobile application development based on expert knowledgesupporting screening Thalassemia carriers

Mobile application development based on expert knowledgesupporting screening Thalassemia carriers

Genetic Study for Identifying Beta Thalassemia Trait in Relatives of Children with Beta Thalassemia Major.

The most common inherited illness, thalassemia, is thought to have a detrimental effect on public health, particularly in endemic areas. Children with beta thalassemia disease have several mutations. Prevention and premarital examination are still the most effective measures to lessen the burden of beta thalassemia. This study primarily aimed to determine the beta thalassemia carriers in relatives of beta thalassemia major children, the role of gene study in the confirmation of beta thalassemia trait diagnosis, and to detect the genetic defect in the relatives of beta thalassemia major children. The cross-sectional study was conducted on 109 healthy children, aged between six months and 18 years, who were the relatives (second and fourth degree) of beta thalassemia major cases. Gene screening, using the amplification refractory mutation system (ARMS) polymerase chain reaction (PCR), covered the most common 22 alleles in the Mediterranean region, and was successful in detecting 61.5% of beta-globin chain mutations of studied participants, in addition to high prevalence (34.8%) of beta thalassemia carriers among the relatives of beta thalassemia children. The beta thalassemia carrier rate was found to be highly prevalent among relatives of beta thalassemia major children. Despite the accuracy of gene screening in the detection of beta thalassemia carriers, the use of the most common 22 alleles can only detect 61.5% of carriers; hence, the value of tested gene study is still limited in the detection of carrier rates.

Social and Cultural Influences on Genetic Counseling Acceptability: A Mixed-Methods Study on Beta-Thalassemia Carriers Among Graduate Students in West Bengal, India.

Thalassemia is an inherited blood disorder characterized by abnormal production of hemoglobin. The prevalence of thalassemia in India varies depending on the region and population. The study used a pre- and postcounseling cross-sectional design, which involves measuring outcomes before and after the intervention (genetic counseling). Three hundred and eighty-five respondents were screened as thalassemia carriers, between a pool of 2985 participants to depict the quantitative prevalence of thalassemia. Two separate qualitative cross-sectional studies were conducted and compared to validate genetic counseling. The aims of the study are to contribute to the understanding of thalassemia carrier frequency and to improve the education and awareness of college students regarding thalassemia. Two different questionnaires were used with the same knowledge, attitude, and practice parameters, one before and one after counseling. A two-sample t-test and an analysis of variance (ANOVA) F-test were used to compare the changes in knowledge, attitude, and practice. Using paired samples t-test to compare the pre- and postcounseling outcome showed significant (P < 0.001) elevation in terms of knowledge, attitude, social beliefs, social discomfort, and practice as a thalassemia carrier. Further, ANOVA F-test demonstrates the relationship between demography and the difference in parametric score of the pre- and postcounseling outcome. By improving knowledge and attitudes, counseling can help individuals to better understand their condition and the importance of adhering to treatment recommendations. This can lead to improved health outcomes and a better quality of life for affected individuals.

Serum Iron and Ferritin Levels in Beta Thalassemia Carriers in Duhok Governorate, Iraq.

Background Thalassemia and iron deficiency anemia (IDA) account for most cases of microcytic hypochromic anemia. It is a common misconception that iron deficiency does not occur in thalassemia. However, studies have found that iron deficiency can coexist in carriers of beta thalassemia. Objective The aim of this study was to determine the prevalence of iron deficiency and iron overload in carriers of beta thalassemia in Duhok, Iraq. Patients and methods This prospective cross-sectional study included 250 patients with beta thalassemia carriers attending Kurdistan Private Hospital Laboratory Department from July 2021 to June 2023. Patients with microcytic hypochromic blood picture were tested for HbA2 levels, and those with a level >3.7% were included in the study and were tested for serum iron and serum ferritin levels. Results The age range was 15-80 years, with a mean of 25 years, and the male-to-female ratio was 1.5:1. The prevalence of iron deficiency in beta thalassemia carriers was 16% (N = 40). The prevalence of iron overload was 8.4% (N = 21). There was a significant statistical difference among those with iron deficiency, normal iron status, and iron overload in terms of hemoglobin level (P=0.001), RBC count (P=0.012), HbA2 (P=0.015), and serum ferritin (P < 0.0001). Conclusion Iron deficiency is more prevalent in beta thalassemia carriers than iron overload, necessitating proper assessment of iron status in patients with beta thalassemia carriers. Those with abnormal iron status need effective treatment to optimize the overall outcomes in patients with beta thalassemia carriers.

Thalassemia Genotypes and HbA2 levels of Children in Wuzhou, Guangxi

To analyze thalassemia genotypes and distribution of children in Wuzhou Guangxi, and evaluate the diagnostic value of HbA2 in children's thalassemia screening, so as to provide scientific evidence for the prevention and control strategies of thalassemia. Four hundred and fifty-eight children suspected with thalassemia in Wuzhou were enrolled from March 2017 to June 2022. The level of HbA2 was detected using Bio-Rad VARIANT II Hb analysis system. The deletion of α-thalassemia was measured with gap-PCR assay, and the point mutation of α- and β-thalassemia was tested with DNA reverse dot blot hybridization assay. The receiver operating characteristic (ROC) curve was used to analyze the diagnostic value of HbA2 for children's thalassemia. A total of 304 thalassemia carriers were detected in 458 children, accounting for 66.38%. One hundred and seventy-five cases were defined to be α-thalassemia, with the main type of --SEA/αα (54.86%). Thirty-six cases were defined to be intermediate α-thalassemia, with the main type of -α3.7/--SEA (9.72%). In 108 cases with β-thalassemia, βCD41-42/βN was the main type, accounting for 49.07%, followed by βIVS-Ⅱ-654 /βN (14.81%). Seven cases were moderate/severe β-thalassemia (predominantly β-28/β-28 and βCD41-42/βCD17/). Twenty-one genotypes of α- and β-thalassemia were found in the children. There was significant difference of HbA2 level between the children with different types of thalassemia and healthy controls (all P < 0.001). ROC curve analysis showed that the sensitivities of HbA2 for α-thalassemia, β-thalassemia and αβ-thalassemia were 74.3%, 82.4% and 85.7%, with the optimal cut-off values of 2.60%, 3.60% and 3.70%, respectively, the specificities were 64.3%, 96.1% and 96.8%, and the area under the curve were 0.690, 0.887 and 0.916, respectively. The thalassemia genotypes of children in Wuzhou are diverse. It is necessary to further strengthen the prevention and control measure of thalassemia to reduce birth defects and improve birth quality.

Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia

BackgroundThalassemias represent some of the most common monogenic diseases worldwide and are caused by variations in human hemoglobin genes which disrupt the balance of synthesis between the alpha and beta globin chains. Thalassemia gene detection technology is the gold standard to achieve accurate detection of thalassemia, but in clinical practice, most of the tests are only for common genotypes, which can easily lead to missing or misdiagnosis of rare thalassemia genotypes.Case presentationWe present the case of an 18-year-old Chinese female with abnormal values of routine hematological indices who was admitted for genetic screening for thalassemia. Genomic DNA was extracted and used for the genetic assays. Gap polymerase chain reaction and agarose gel electrophoresis were performed to detect HBA gene deletions, while PCR-reverse dot blot hybridization was used to detect point mutations in the HBA and HBB genes. Next-generation sequencing and third-generation sequencing (TGS) were used to identify known and potentially novel genotypes of thalassemia. We identified a novel complex variant αHb WestmeadαHb Westmeadαanti3.7/-α3.7 in a patient with rare alpha-thalassemia.ConclusionsOur study identified a novel complex variant that expands the thalassemia gene variants spectrum. Meanwhile, the study suggests that TGS could effectively improve the specificity of thalassemia gene detection, and has promising potential for the discovery of novel thalassemia genotypes, which could also improve the accuracy of genetic counseling. Couples who are thalassemia carriers have the opportunity to reduce their risk of having a child with thalassemia.

Characterization of Hemoglobin Malay Phenotypes in Tertiary Hospitals

Hemoglobin (Hb) Malay is a common β hemoglobinopathy in Malaysia caused by A > G mutation in codon 19 leading to β+-thalassemia phenotype. However, screening for Hb Malay is challenging as it is undetectable by routine capillary electrophoresis (CE) or high-performance liquid chromatograpy (HPLC) methods. This study aimed to determine the Hb Malay phenotypes. The study was done on 521 cases with presumed β thalassemia from UKMMC and Hospital Selayang as well as confirmed Hb Malay cases from Hospital Sultanah Bahiyah, Kedah in over a 5-year period. Hb analysis using CE or HPLC followed by multiplex amplification refractory mutation system polymerase chain reaction and DNA sequencing were performed. Significant differences in mean values of haematological parameters among Hb Malay carriers against β thalassemia carriers were determined using one-way ANOVA and ROC analysis. A total of 482/521 cases of β globin mutations were identified. Among these, 54 Hb Malay cases were identified whereby 21 Hb Malay cases were from UKMMC and Hospital Selayang whilst 33 Hb Malay cases were from Hospital Sultanah Bahiyah, Kedah. Fifty-two were Hb Malay carriers whereas two cases were compound heterozygotes. The mean hemoglobin, mean cell volume, mean cell hemoglobin, and HbA of Hb Malay carriers were significantly higher than β° thalassemia carriers. The HbA2 range of Hb Malay carriers was wider (3.5–5.5%) with median value of 3.9%. A new HbA2 cutoff value ≤4.6% (AUC 0.717, p < 0.001) was proposed. Compound heterozygous Hb Malay/IVS1-5(G > C) showed transfusion-dependent thalassemia phenotype. Hb Malay carriers have different red cell and electrophoretic parameters than classical β° thalassemia carriers with wider HbA2 range. HbA2 of ≤4.6% should prompt a molecular confirmation for Hb Malay carrier status.

Association of thalassemia, hemoglobinopathies, and vitamin D levels with lipid profile in adults: Community-based research in southern Thai population

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.

Anemia among Medical Students from Jakarta: Indonesia-Iron Deficiency or Carrier Thalassemia?

Anemia, a global health concern, affects one-fourth of the global population, particularly women. In Indonesia, its prevalence is 23.7%, with 32.0% among 15-24 year-olds. Factors include poor nutrition, infectious diseases, chronic diseases, inherited disorders, and inadequate healthcare access. This study aimed to investigate anemia prevalence and its etiology among medical students from Jakarta. This study was a descriptive research with a cross-sectional approach. Undergraduate students aged 18-23 years old were selected and consented to participate by a consecutive nonrandom sampling methods. Laboratory blood data were evaluated (including Hb, MCV, MCH, HbA2, and ferritin levels) and DNA was isolated to confirm the type of thalassemia carrier. In total, 140 medical students, mainly female, were recruited. Anemia was found in 13.6% (11.4% had low MCV and/or MCH), and 16.5% had low MCV and/or MCH without anemia. Hb electrophoresis revealed high HbA2 values, suggesting the HbE variant (2.1%), and β-thalassemia carrier (0.7%). DNA analysis confirmed the cd26 mutation and heterozygous IVS1nt5. Among those without anemia, 5% had α-deletion, while in the group with anemia, 1.4% had α-deletion (with coexistent IDA), 3.6% had α-deletion, and 0.7% had β-mutation. DNA analysis can identify specific mutations associated with alpha-thalassemia, distinguishing between iron deficiency anemia and the alpha-thalassemia trait. Thalassemia screening should involve low MCV and/or MCH values as the first step (stage 1), followed by Hb analysis (stage 2) and DNA analysis (stage 3). In common areas, a combination of Hb and DNA testing is best. However, healthcare professionals must diagnose and treat thalassemia, as proper management relies on accurately identifying the underlying condition.

Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.

Thalassemia is a severe hereditary blood disorder that poses a significant threat to human health and leads to mortality and disability. It is one of the most prevalent monogenic diseases worldwide. The aim of this study was to analyze the molecular epidemiological data of individuals of childbearing age from the Han ethnic group with thalassemia in Southwest China and to explore the application of next-generation sequencing (NGS) technology in screening thalassemia carriers. The participants were Han males and females of childbearing age who sought medical advice at the West China Second University Hospital, Sichuan University from June 2022 to June 2023. We detected α- and β-thalassemia mutations using full-length capture of the thalassemia genes and NGS technology. In a cohort of 1,093 participants, 130 thalassemia carriers were identified, with an overall detection rate of 11.89% (130/1,093). Among these, 0.91% (10/1,093) had mutations that could not be detected using traditional PCR techniques. The proportions of carriers with α-, β-, and α-complexed β-thalassemia gene mutations were 7.68% (84/1,093), 3.93% (43/1,093), and 0.27% (3/1,093), respectively. We identified a novel HBA2 c.166del variant that has not been previously reported. Using NGS technology, we found that the mutation-carrying rate of thalassemia genes was 11.89% in the Han population of childbearing age in Southwest China. Compared with the results of traditional PCR techniques, NGS detected an additional 0.91% (10/1,093) rare genetic variants. NGS technology should be utilized as the primary screening method for thalassemia carriers among Han nationality people of childbearing age in Southwest China.

Fuzzy-Based Fusion Model for β-Thalassemia Carriers Prediction Using Machine Learning Technique

The abnormality of haemoglobin in the human body is the fundamental cause of thalassemia disease. Thalassemia is considered a common genetic blood condition that has received extensive investigation in medical research globally. Likely, inherited disorders will be passed down to children from their parents. If both parents are beta Thalassemia carriers, 25% of their children will have intermediate or major beta thalassemia, which is fatal. An efficient method of beta thalassemia is prenatal screening after couples have received counselling. Identifying Thalassemia carriers involves a costly, time-consuming, and specialized test using quantifiable blood features. However, cost-effective and speedy screening methods must be developed to address this issue. The demise rate due to thalassemia development is outstandingly high around the globe. The passing rate due to thalassemia development can be reduced by following the proper procedure early; otherwise, it significantly impacts the body. A machine learning-based late fusion model proposes the detection of beta-thalassemia carriers by analyzing red blood cells. This study applied the late fusion technique to employ four machine learning algorithms. For identifying the beta-thalassemia carriers, logistics regression, Naïve Bayes, decision tree, and neural network have achieved an accuracy of 94.01%, 93.15%, 97.93%, and 98.07%, respectively, by using the features-based dataset. The late fusion-based ML model achieved an overall accuracy of 96% for detecting beta-thalassemia carriers. The proposed late fusion model performs better than previously published approaches regarding efficiency, reliability, and precision.

Spectrum of alpha-thalassemia mutations according to immigration, ethnicity in Bursa, Turkey and first observing of SEA double gene deletion

Background: Thalassemia syndromes are common in the Mediterranean region, including Turkey. Our aim is investigating the genetic mutation diversity of alpha thalassemia cases in Bursa and to investigate the mutation diversity in relation to the cases' immigration status and ethnic origins.&#x0D; Materials and Methods:&#x0D; Retrospective analysis was performed on 66 cases aged 1-18 years who were diagnosed as alpha thalassemia carriers by genetic mutation analysis. The patients' complete blood count, ferritin levels, hemoglobin electrophoresis, genetic mutations, immigration status, origin, whether they received iron therapy prior to the diagnosis were all evaluated.&#x0D; Results: Of the 66 cases, 53% were female and 47% were male. The most common genetic mutation was the 3.7% deletion with a rate of 51.5%, followed by the heterozygous mutation with a deletion of 20.5 with a rate of 21.20%. SEA double gene deletion homozygous mutation 1.5% and, heterozygous mutation 1.5%. Eleven different genotypes of alpha thalassemia were discovered. While 3.7 deletion heterozygous mutation was most common in cases immigrating from Bulgaria, Syria, and Azerbaijan, FIL deletion mutation was most common in cases immigrating from Georgia, and alpha-2 polyA-2 heterozygous mutation was found in one case immigrating from Greece.&#x0D; Conclusion: The most common mutation was 3.7 deletion and SEA double gene deletion was discovered, which had not been discovered in previous studies. With this study, we added to the literature the genetic mutation diversity in Bursa, which sees a lot of immigration.

Pengetahuan dan Pendapat Mahasiswa Poltekkes Surabaya Tentang Kelainan Genetik dan Skrining Pra-Nikah

To ensure couples planning to get married understand the genetic risks related with their future offspring, they need to acquire information about genetic disorders and pre-marital genetic counselling that can be followed by genetic screening. Genetic disorders can be inherited from normal parents who are carriers of abnormal genes, such as thalassemia and Haemophilia. Genetic disorder also encompass chromosomal abnormalities, either the number or structure chromosome. Unlike numerical chromosomal abnormalities in offspring, which have an increased risk associated with the mother’s age during pregnancy, structural abnormalities in parents can be passed to their offspring. This community service activity targets seventh-semester students at Poltekkes Kemenkes Surabaya, who are at an age ready for marriage. The implementation of this activity begins with a pre-test to assess the student ‘s knowledge before the education presentation, followed by presentation with interactive discussion and ended with post-test to determine whether the education was comprehensible to them. Poltekkes Kemenkes Surabaya students showed a better understanding of genetic disorder indicated with an average score increase of 8.2 points (9.2%) based on post test result . All students agree on the importance of pre-marital screening, with the majority willing to undergo premarital screening and still proceed with the marriage if their partner is a carrier of thalassemia.

Molecular Characterization of α- and β-Thalassemia Among Children Less Than 18 Years Old in Guizhou, China.

Thalassemia is an inherited hemolytic disease, the complications and sequelae of which have posed a huge impact on both patients and society. But limited studies have investigated the molecular characterization of α- and β-thalassemia in children from Guizhou, China. Between January 2019 and December 2022, a total of 3301 children, aged 6 months to 18 years, suspected of having thalassemia underwent molecular analysis. Out of the total sample, 824 (25%) children were found to carry thalassemia mutations. The carrier rates of α-thalassemia, β-thalassemia, and α + β-thalassemia were determined as 8.1%, 15.6%, and 1.3%, respectively. Approximately 96.5% of the α-thalassemia gene mutations were --SEA (51%), ααCS (20.9%), -α3.7 (19.6%), and -α4.2 (5.0%). The most prevalent mutations of β-thalassemia were βCD17(A>T) (41.5%), βCD41-42(-TTCT) (37.7%), and βIVS-II-654(C>T) (11.3%). Additionally, we identified rare cases, including one case with ααHb Nunobiki/αα, two cases with triplicated α-thalassemia (one case with ααα/ααα and βCD41-42/βN and the other with ααα-3.7/αα and βE CD26/βN), and also one case with α Q-Thailandα/-α4.2 and βCD41-42/βN. Our study findings provide important insights into the heterogeneity of thalassemia carrier rates and molecular profiles among children in the Guizhou region. The findings support the development of prevention strategies to reduce the incidence of severe thalassemia in the future.

Prevalence of thalassemia-carrier couples and fertility risk assessment.

Thalassemia is a highly prevalent hematologic disease in Guizhou, China. This study aimed to determine the epidemiological characteristics of thalassemia in couples at childbearing age and assess the neonatal risk of thalassemia in this subpopulation. A cohort of 4481 couples at childbearing age were recruited for thalassemia carrier screening by both traditional hematological tests and next-generation sequencing. Of them, 1314 (14.66%) thalassemia carriers were identified, including 857 (9.76%) α-thalassemia, 391 (4.36%) β-thalassemia, and 48 (0.54%) composite α and β-thalassemia. A total of 12 α-globin gene alterations and 16 β-globin mutations were detected, including four novel thalassemia mutations. SEA was the most common α-thalassemia genotype (26.86%), CD41-42 the most common β-thalassemia genotype (36.57%), and αα/-α3.7 + CD41-42 the most common composite α- and β-thalassemia genotype (18.75%). Ethnically, the Zhuang had the highest rate of thalassemia gene carriers among the ethnic groups. Geographically, Qiannan had the highest rate of thalassemia gene carriers. In addition, 38 of the 48 couples with composite α- and β-thalassemia were high-risk thalassemia carriers, and 4 carrying the -SEA/αα gene needed fertility guidance.

Peripheral Blood Film Patterns in Thalassemia and Hemoglobinopathy Carrier

Thalassemia and hemoglobinopthies are the commonest genetic disorders of hemoglobin. The disease has autosomal recessive pattern of inheritance. Screening of thalassemia and hemoglobinopathy carriers is a burning issue to prevent new cases. Thalassemia and hemoglobinopathies can be prevented by genetic testing followed by genetic counseling, if we can detect carriers of thalassemia or hemoglobinopathies by an easy method. The objective of this study was to see the peripheral blood film pattern among the carriers of thalassemia and hemoglobinopathies. It was a cross-sectional study conducted from September 2015 to November 2015. A total of 437 random specimens were collected from three tribal groups. Two mL of venous blood were collected in EDTA tube. Hemoglobin variants were studied by HPLC method using Variant Hemoglobin Testing System (Variant II Beta Thalassemia Short Program). Statistical analysis was carried out using SPSS statistical package (version 23.0). Data were analyzed by frequency distribution. In this study, total 437 respondents were examined for blood test. Male to female ratio was 1:1. The study included cases from 2 years to 82 years where mean age was 18.3±12.0 years. In clinical analysis, Hb ranged from 8.5 to 19.0 gm/dL and 187 cases were found normochromic, 110 cases anisochromic 140 cases hypochromic. Among them, 38.2% were normal individuals, Hb E Trait were 34.8%, Hemoglobin E disease were 21.7% and Beta Thalassemia trait were 5.3%.Peripheral blood film and hemoglobin status may give an idea about thalassaemia and hemoglbinopathy trait or carrier. In the suspected cases, High Performance Liquid Chromatography (HPLC) may be done to confirm the diagnosis.&#x0D; Bangladesh J Med Biochem 2019; 12(2): 23-30

A particular focus on the prevalence of α-thalassemia and β-thalassemia among pregnant women in Changsha County, Hunan Province.

Thalassemia is a inherited monogenic blood disorder and more prevalent in southern China. In this study, Our aim was to elucidate the molecular spectrum and phenotypic features of thalassemia in pregnant women in Changsha County. Next-generation sequencing (NGS) was conducted for 38,810 pregnant women to diagnose thalassemia in Changsha County. Further analysis of hematological parameters was conducted on subjects who had not previously undergone thalassemia screening in other hospitals. In this study, 2,208 (5.69%) pregnant women were diagnosed as carriers of thalassemia using NGS analysis. Among 1,594 cases of α-thalassemia, 23 genotypes were identified, and among 578 cases of β-thalassemia, 22 genotypes were detected. Additionally, 18 genotypes were detected among 36 cases of composite α- and β-thalassemia. Among all carriers of thalassemia, 8 rare α-mutations and 11 rare β-mutations were found in the study population. Notably, pregnant women diagnosed as carriers of thalassemia tended to have lower hemoglobin levels. Furthermore, multivariable logistic regression analysis indicates that the values of MCV and MCH have the greatest impact on genetic diagnosis. Our study has provided detailed genotypes and hematological parameters of thalassemia in pregnant women in Changsha county and reveal that certain abnormal blood parameters have a remarkably impact on genetic diagnosis results. Furthermore, our data suggest that combining hemoglobin electrophoresis and NGS provides a powerful tool for prenatal diagnosis, which will increase the accuracy of clinical diagnosis of thalassemia.