Thalassemia Screening Research Articles

Implementation of fuzzy logic approach for thalassemia screening in children

Thalassemia is one of the most dangerous blood disorders that can lead to severe complications. It is an inherited disease, usually detected after a child is two to four years old. Identification of thalassemia is a complex task, involving many variables. Doctors generally diagnose thalassemia by using a complete blood count (CBC) and high-performance liquid chromatography (HPLC) test results. However, HPLC tests are expensive and time consuming, hence the need for other methods to identify thalassemia. There are many studies on the application of artificial intelligence for medical applications. In this study, we developed a new fuzzy-based approach to identify thalassemia based on a patient’s blood laboratory results. First, we analyzed the CBC data for blood disorder prediction. Secondly, we adopt the test results of peripheral blood smear (PBS) to identify whether the person has thalassemia. We conducted several experiments using 30 (thirty) hospital patient data and the results were compared with the results provided by experts. The experimental results show that the system can determine blood disorders with 93% accuracy and 100% precision in thalassemia prediction. This system is very effective to help doctors in diagnosing thalassemia patients.

Genotype-phenotype correlation analysis of patients with thalassemia in Quanzhou city, Southeast of China

BackgroundThe carrying rate of thalassemia is high in Quanzhou city. However, there are few large-scale studies on the correlation analysis between genotype and phenotype of thalassemia in Quanzhou. In this study, the genotype and phenotype data of 1076 individuals with thalassemia in Quanzhou city were analyzed to provide reference data for screening and diagnosis of thalassemia in this region. Material and MethodsReverse dot blot hybridization (RDB-PCR), Gap-PCR and nested PCR were used to detect the thalassemia genotype. Clinical and hematological parameters of 1076 individuals of thalassemia were collected to analyze the correlation between genotype and phenotype. ResultsAmong 2997 subjects, 1076 cases diagnosed as thalassemia gene carrier or patients, with detection rate 35.9%, among which Southeast Asian deletion (--SEA) / αα was the most common α-thalassemia genotype (48.4%) and one rare genotype was detected: HKαα/--SEA (0.1%). Subjects with thalassemia alone showed the least severe symptoms of anemia with higher red blood cell count (RBC) and hemoglobin (Hb), lower red blood cell distribution width (RDW) than those with iron deficiency (ID) or iron overload (IO) (p<0.05). The Hb, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) levels in gene carriers of α-thalassemia were higher than those of β-thalassemia, while RBC, RDW and serum ferritin (SF) levels were lower than the later(p<0.05). Among individuals with --SEA/αα, the Hb, MCV, MCH, mean corpuscular hemoglobin concentration (MCHC) and SF levels of subjects≥19 years old were higher than those of ≤18 years old. For cases ≥19 years old, the RBC, Hb and SF levels in male were higher than that in female, while MCHC level was lower than female(p<0.05). ConclusionThe difference of hematological phenotypes in patients with thalassemia is not only affected by their genotype, but also the influence of gender and age.

The Utility of Micro-R/Hypo-He Ratio Cut-off for Distinguishing Iron Deficiency Anemia and Minor Thalassemia

Thalassemia is a genetic disease with impaired synthesis of the globin chain that causes anemia. Thalassemia and Iron Deficiency Anemia (IDA) are both microcytic hypochromic anemia but have different proportions of hypochromic and microcytic erythrocytes due to differences in disease mechanisms. Research parameters of the hematology analyzer: %Micro-R, %Hypo-He, and MH ratio can be used as early screening for thalassemia and IDA. This study aimed to evaluate the cut-off of %Micro-R, %Hypo-He, and MH ratio to differentiate thalassemia from IDA. A cross-sectional study was carried out on 217 subjects. Subjects were divided into two groups, thalassemia and IDA based on hemoglobin electrophoresis, hematology examination, and Mentzer index. Differences and cut-off values of %Micro-R, %Hypo-He, and MH ratio between the two groups were analyzed. The number of collected data was 134, consisting of 89 thalassemia patients and 45 IDA patients. Thalassemia patients had a median %Micro-R value of 51.2 (4.3-79.0), %Hypo-He value of 7.2 (0.2-50.2), and MH ratio of 7.17 (1.10-64.50), higher than IDA patients (p=0.000; p=0.176; p=0.000). The optimal cut-off value for %Micro-R in discriminating thalassemia trait from IDA was &gt;12.7, with the area under the ROC curve (AUC) of 0.945, sensitivity of 92.1%, and specificity of 82.2%. The cut-off value for MH ratio &gt; 3.27 with AUC 0.833, sensitivity of 85.4%, and specificity 77.8% showed lower performance of cut-off value compared to %Micro-R. The algorithm using %Micro-R and MH ratio was proposed for thalassemia trait screening. High %Micro-R and MH are suggestive of thalassemia trait than of IDA.

Mobile application development based on expert knowledgesupporting screening Thalassemia carriers

Mobile application development based on expert knowledgesupporting screening Thalassemia carriers

The value of Mentzer index in the diagnosis of children thalassemia minor

ABSTRACT Objective: To explore the effect of the Mentzer Index (MI) in screening for children thalassemia (TT) minor. Methods: We determined the MI cutoff value of diagnosing TT minor in children by utilizing a receiver operating characteristic (ROC) curve. Samples with MI values below this threshold, and no detectable gene mutations or IDA were further analyzed using Sanger sequencing or specific primer GAP-PCR. Results: In the differential diagnosis of silent α-thalassemia (α-TT) and IDA, the area under the ROC curve (AUC) for the Mentzer index (MI) was 0.561. The most Youden index indicates an MI cutoff value of 16.833, with a sensitivity of 1.000 and a specificity of 0.278. For distinguishing α-TT minor from IDA, the AUC was 0.909, with an MI cutoff value of 12.24, a sensitivity of 0.875, and a specificity of 0.778. When distinguishing β-TT minor from IDA, the AUC was 0.907, with an MI cutoff value of 11.82, a sensitivity of 0.917, and a specificity of 0.768. Utilizing these MI cutoff values, three cases of rare TT genotype were identified, including a previously unreported heterozygous mutation of IVS-II-55 (T > G) in the alpha2 (αIVS-II-55(T > G)/αα). Conclusion: The diagnostic precision of MI is limited when differentiating between silent α-TT and IDA, but it is higher when distinguishing between α-TT minor, β-TT minor, and IDA. This study established a cutoff value for MI in our laboratory, providing reliable data for screening for TT minor and discovering rare TT genotypes among children in the local area.

Application of electrospray triple quadrupole mass spectrometry in assessing thalassemia in a population.

Thalassemia is widely prevalent in Asian countries and the Middle East region of the world. While the prevalence of α thal is around 5-20% in the population, the incidence of β thal is around 3-4%. The available data on thalassemia in Indians is based on chromatographic or electrophoretic techniques. The present study demonstrates the utility of mass spectrometry in detecting thalassemia in a small, healthy population from Tiptur, Karnataka. The study included a population of 315 individuals, spanning both children and adults, with ages ranging from 4 to 76 years. EDTA whole blood was collected after obtaining their written consent. The intensities of various globin chains were measured using a triple quadrupole mass spectrometer. The ratio of the peak areas of globin chains (α/β, δ/β (%)) served as biomarkers to detect thalassemia. Thirty random samples of α thalassemia were analyzed using GapPCR. The prevalence of a thal is 21.65% (68/314) based on α/β (< =0.8) and the prevalence of β thal is 3.8% (12/314) based on δ/β (%) (> =11.0). GapPCR detected three heteromutants of α deletion, one mutation in the HBA1 gene, and one a triplication (16.7%, 5/30). One sample was excluded from the analysis due to the presence of a variant. The utility of mass spectrometry for screening thalassemia in a population is demonstrated. The higher occurrence of α-thalassemia in the studied population underscores the importance of screening for thalassemia in regions with reportedly high prevalence rates.

Rising Cases of Hb H Disease in Iraq Highlight the Urgent Need for Pre-Pregnancy Screening

General background: Hemoglobin H (Hb H) disease results from mutations in three of the four α-globin genes, leading to α-thalassemia. Specific background: In Iraq, this condition is rare among alpha-thalassemia cases. The disease presents significant hematological abnormalities, impacting quality of life. Knowledge gap: Despite its rarity, few studies have characterized the hematopathological features and prevalence of Hb H disease in specific Iraqi regions. Aims: This study aimed to assess the hematological parameters and prevalence of Hb H disease among patients in Diyala province, Iraq. Results: A total of 81 patients with Hb H disease (53.18% male, 46.91% female) were registered at the Baqubah Teaching Hospital in 2023. Median patient age was 21.8 years (range 4-48). Hematological analysis revealed consistently low levels of hemoglobin (Hb) and hematocrit (HCT) compared to standard values. Mean corpuscular volume (MCV) was also significantly reduced, with 58.02% of patients presenting Hb levels below 10 g/dL. The 21-40 age group had the highest incidence (46.91%). Novelty: This study is among the few to investigate Hb H disease prevalence and hematopathological characteristics in Diyala province, revealing an unexpectedly high incidence in the 21-40 age group. Implications: These findings suggest that hematological parameters, including MCV and Hb levels, should be considered in thalassemia screening programs, particularly in pre-pregnancy assessments, to prevent the birth of children with severe forms of alpha-thalassemia and reduce Hb H disease prevalence. Highlights: Hb H disease shows low hemoglobin and MCV abnormalities. Highest incidence occurs in patients aged 21-40 years. Pre-pregnancy screening reduces severe alpha-thalassemia risk. Keywords: Hb H disease, alpha-thalassemia, hematological parameters, Diyala province, prevalence

Awareness Regarding Screening Programs in General Population to Improve Health Indicators: Genetic Counselors as Facilitators

Public health screening programs are crucial for early disease detection, but limited awareness hinders their effectiveness in India, regardless of literacy. This study assessed awareness levels for key programs among 294 literate and illiterate individuals via an online survey. Results showed high awareness for antenatal care (96%). Newborn screening (NBS) and thalassemia screening awareness were higher in females, particularly regarding thalassemia's hereditary nature (73% vs 61% and 73% vs 57%). Cervical cancer awareness increased with education (83% for graduates). Interestingly, even those with no education displayed some awareness of breast cancer screening. Prostate cancer awareness was similar across genders, with limited knowledge even among highly educated individuals (66% for Ph.Ds). These findings highlight a critical gap in public health education. Genetic counselors can bridge this gap by implementing targeted campaigns, partnering with schools and communities, and collaborating with healthcare professionals. Empowering individuals with knowledge is essential for improved population health outcomes in India.

Evaluating the Mentzer Index for Screening of Iron Deficiency Anemia and Beta Thalassemia Among Infants Visiting Primary Health Centers in Dubai, United Arab Emirates: A Retrospective Study.

The study aims to apply the Mentzer index to the population of all eligible pediatric patients presenting to primary healthcare centers (PHCs) in Dubai for the first year of life screening. Additionally, the study will estimate the prevalence of iron deficiency anemia (IDA) and β-thalassemia in children presenting to the PHCs and evaluate the importance of PHCs in screening children for IDA and β-thalassemia by comparing the results of this study to previous results. The SALAMA system (electronic medical record system used in PHCs in Dubai) was used for collecting the data. Eligible patients' data, such as hemoglobin, mean corpuscular volume (MCV), and red blood cell(RBC) counts were collected and recorded. The Mentzer index was applied to patients and the index results were compared to the gold standard results extracted from the SALAMA system. The gold standard diagnosis for IDA used was the serum ferritin test and the gold standard diagnosis for β-thalassemia used in the study was hemoglobin electrophoresis. Out of the 75 eligible patients with low hemoglobin, 11 (14.6%) had low ferritin indicating IDA. Moreover, eight (10.6%) patients had abnormal hemoglobin electrophoresis indicating β-thalassemia. The Mentzer index was applied to the patients; 13 (17.3%) of them had a value less than 13 (β-thalassemia) and 6 (8%) had a value more than 13 (IDA). The sensitivity of the Menzter index in screening IDA and β-thalassemia is 99% and the specificity is 54.5%. Our study found that the Mentzer's index is a reliable screening tool due to its high sensitivity; however, we suggest replicating the study with a larger sample size to get more clinically significant results.

Detection of Hemoglobin Constant Spring: A Comparison of Capillary Electrophoresis Versus High-Performance Liquid Chromatography.

In Malaysia, Hemoglobin Constant Spring (Hb CS) is the most common non-deletional α-thalassemia, caused by a mutation at the termination codon of the α2-globin gene (TAA>CAA). Detection typically involves identifying an abnormal peak at zone 2 on capillary electrophoresis (CE) or a small peak at the C-window on high-performance liquid chromatography (HPLC), indicative of Hb CS. This study aimed to investigate the correlation between HPLC and CE in detecting Hb CS, evaluating their respective diagnostic accuracies and limitations. A cross-sectional study was conducted at Hospital Sultanah Nur Zahirah involving secondary school students (Form 4) from Terengganu who participated in a thalassemia screening program conducted by the Ministry of Health (MOH) from January 2019 to December 2022. Blood samples from subjects showing a positive peak in zone 2 of CE and a small peak at the C-window of HPLC were selected. Molecular studies of these samples were performed to confirm the presence of Hb CS. For the statistical analysis, the Pearson correlation coefficient was employed to assess the relationship between CEand HPLCresults. Hb CS was confirmed in all samples by molecular studies, revealing 92.3% heterozygous, 7.2% compound heterozygous, and 0.5% homozygous cases. CE detected 92.3% of heterozygous Hb CS cases, while HPLC detected only 48.2%. For compound heterozygous Hb CS, CE detected 100%, whereas HPLC detected 89.3%. Both homozygous cases were detected by CE and HPLC. The Pearson correlation coefficient test showed a significant linear relationship (p<0.001) between CE's zone 2 peak values and HPLC's C-window peaks (n=389). Conclusion: These findings highlight the efficacy of CE as a reliable method for Hb CS detection, suggesting its potential superiority over traditional HPLC in clinical settings.

HbA2 levels in children with β-thalassemia trait associated with iron deficiency: A perspective for pediatricians.

A critical factor in β-thalassemia trait screening is a hemoglobin A2 (HbA2) level of 3.5% or higher. In children with iron deficiency, HbA2 levels decrease, and diagnosis may be missed. Studies with adult carriers have yielded conflicting results on this issue. The effectiveness of HbA2-based thalassemia screening in carrier children with iron deficiency has not been studied before. In this study, among 213 children with β-thalassemia trait, those with iron deficiency were determined based on ferritin value (<15ng/mL), and their HbA2 levels were examined. We compared HbA2 levels of iron-deficient and iron-sufficient carriers and examined the correlation between low HbA2 levels and ferritin level. Because ferritin is an acute-phase reactant, similar evaluations were made by using transferrin saturation as the criterion for iron deficiency. The median HbA2 value of iron-deficient carrier children was 4.1% and within the diagnostic range (≥3.5%) in the majority of children. Median HbA2 levels in iron-deficient carriers differed from levels in iron-sufficient carriers (4.1% vs 4.9%, P< .007). No correlation was present between low HbA2 levels and ferritin levels (0.226). Furthermore, among children without iron deficiency, there were individuals with low HbA2 levels (26.9%). Similar results were obtained when transferrin saturation was used. Hemoglobin A2 can be used as a screening test in children with β-thalassemia trait, despite accompanying iron deficiency. Low HbA2 levels in these children may be the result of underlying thalassemia mutation, not the result of accompanying iron deficiency. Therefore, in suspected cases of β-thalassemia trait, evaluation should continue, regardless of iron status or treatment.

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.

Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening

Thalassemia is one of the most common and damaging monogenic diseases in the world. It is caused by pathogenic variants of α- and/or β-globin genes, which disrupt the balance of these two protein chains and leads to α-thalassemia or β-thalassemia, respectively. Patients with α-thalassemia or β-thalassemia could exhibit a severe phenotype, with no simple and effective treatment. A three-tiered strategy of carrier screening, prenatal diagnosis and newborn screening has been established in China for the prevention and control of thalassemia, of which the first two parts have been studied thoroughly. The implementation of neonatal thalassemia screening is lagging, and the effectiveness of various screening programs has not yet been demonstrated. In this study, hemoglobin capillary electrophoresis (CE), hotspot testing method, and third-generation sequencing (TGS) were used in the variant detection of 2000 newborn samples, to assess the efficacy of these methods in neonatal thalassemia screening. Compared with CE (249, 12.45 %) and hotspot analysis (424, 21.2 %), CATSA detected the largest number of thalassemia variants (535, 26.75 %), which included 24 hotspot variants, increased copy number of α-globin gene, rare pathogenic variants, and three unreported potentially disease-causing variants. More importantly, CATSA directly determined the cis–trans relationship of variants in three newborns, which greatly shortens the clinical diagnosis time of thalassemia. CATSA showed a great advantage over other genetic tests and could become the most powerful technical support for the three-tiered prevention and control strategy of thalassemia.

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.

Experience of Antenatal Thalassemia Screening and Prenatal Diagnosis from a Tertiary Care Teaching Hospital in Punjab

Experience of Antenatal Thalassemia Screening and Prenatal Diagnosis from a Tertiary Care Teaching Hospital in Punjab

Microstrip isoelectric focusing with deep learning for simultaneous screening of diabetes, anemia, and thalassemia

BackgroundHemoglobin (Hb) is an important protein in red blood cells and a crucial diagnostic indicator of diseases, e.g., diabetes, thalassemia, and anemia. However, there is a rare report on methods for the simultaneous screening of diabetes, anemia, and thalassemia. Isoelectric focusing (IEF) is a common separative tool for the separation and analysis of Hb. However, the current analysis of IEF images is time-consuming and cannot be used for simultaneous screening. Therefore, an artificial intelligence (AI) of IEF image recognition is desirable for accurate, sensitive, and low-cost screening. ResultsHerein, we proposed a novel comprehensive method based on microstrip isoelectric focusing (mIEF) for detecting the relative content of Hb species. There was a good coincidence between the quantitation of Hb via a conventional automated hematology analyzer and the one via mIEF with R2 = 0.9898. Nevertheless, our results showed that the accuracy of disease diagnosis based on the quantification of Hb species alone is as low as 69.33 %, especially for the simultaneous screening of multiple diseases of diabetes, anemia, alpha-thalassemia, and beta-thalassemia. Therefore, we introduced a ResNet1D-based diagnosis model for the improvement of screening accuracy of multiple diseases. The results showed that the proposed model could achieve a high accuracy of more than 90 % and a good sensitivity of more than 96 % for each disease, indicating the overwhelming advantage of the mIEF method combined with deep learning in contrast to the pure mIEF method. SignificanceOverall, the presented method of mIEF with deep learning enabled, for the first time, the absolute quantitative detection of Hb, relative quantitation of Hb species, and simultaneous screening of diabetes, anemia, alpha-thalassemia, and beta-thalassemia. The AI-based diagnosis assistant system combined with mIEF, we believe, will help doctors and specialists perform fast and precise disease screening in the future.

“The Parental Perspective of Thalassemia in Bangladesh: Challenges for Prevention and Management of Thalassemia”

Introduction: Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, poses significant challenges for families worldwide. In Bangladesh, where the prevalence of thalassemia is notable, parents face unique hurdles in both preventing and managing this condition. Aim of the study: The aim of this study is to explore the parental perspective of thalassemia in Bangladesh, focusing on the challenges faced in the prevention and management of the disease. Methods: This was a cross section retrospective study conducted in the Department of Paediatrics of M Abdur Rahim Medical College, Dinajpur, Bangladesh during the period from June 2023 to December 2023. Result: Among the total of 320 caregivers, 46.9% were father, while 53.1% were mother respectively. Minority 14.1% of marriages were consanguineous, while the majority (85.9%) was not. The majority (82.8%) of respondents had one thalassemic child, while 17.2% had two or more thalassemic children. Before the diagnosis of thalassemia in their child, 90.9% of respondents had not heard about thalassemia. All respondents (100%) reported not undergoing thalassemia screening before marriage. The median age at diagnosis of thalassemia among the participants was 1.32 years. Beta thalassemia was diagnosed in 30.6% of the participants, while 68.8% had E-beta thalassemia. The majority 65.9% of respondents correctly identified thalassemia as a genetic disease, while 22.5% provided an incorrect response. Conclusion: Thalassemia presents significant challenges for affected individuals and their families in Bangladesh, ranging from limited access to diagnostic services and blood transfusions to social stigma and financial burdens.

Influence of iron deficiency anemia on hemoglobin A2 Levels: Possible consequences for beta thalassemia screening

Influence of iron deficiency anemia on hemoglobin A2 Levels: Possible consequences for beta thalassemia screening

Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?

Rare thalassemia subtypes are often undiagnosed because conventional testing methods can only identify 23 common types of α- and β-thalassemia. To assess a comprehensive approach for the screening and diagnosis of rare thalassemia. The study cohort included 72 individuals with suspected rare thalassemia variants. Screening was conducted by next-generation sequencing (NGS) combined with third-generation sequencing (TGS) and chromosomal microarray analysis (CMA)/copy number variation sequencing. Of the 72 individuals with suspected rare thalassemia, 49 had rare α- or β-gene variants. NGS combined with gap polymerase chain reaction detected a total of 42 cases, resulting in a positive detection rate of 58.3%. Additionally, 4 α-globin genetic deletions were identified by TGS, which increased the variant detection rate by 5.6%. Two samples with a microdeletion of chromosome 16 or 11 were detected by CMA, which increased the detection rate by 2.8%. For one sample, reanalysis of the NGS and TGS data confirmed the presence of the β41-42/βN and βN/βN mosaic. The HBB:c.315 + 2delT mutation was initially reported in Guangdong Province, China. Two HBB gene mutations (HBB:c.315 + 5G>C and HBB:c.295G>A) and 4 rare HBA gene deletions (-11.1, -α27.6, -α2.4, and -α21.9) were initially identified in the Zhonshan region. The hematologic phenotypes of all rare cases in this study were clarified. Rare thalassemia variants are more common than previously thought. Despite advancements in TGS, there is still no foolproof method for detection of all types of thalassemia. Thus, a comprehensive approach is necessary for accurate screening and diagnosis of rare thalassemia variants.

HBA2 levels in iron deficiency - Can iron deficiency mask thalassemia screening?

HBA2 levels in iron deficiency - Can iron deficiency mask thalassemia screening?