Thalassemia Gene Research Articles

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.

Gene Analysis of Combined Dual Rare Thalassemia

To retrospectively analyze the detection and diagnosis process of two cases with double rare thalassemia genotypes, explore the causes of missed diagnosis and misdiagnosis of rare thalassemia, and improve the diagnosis level of rare thalassemia. Base on the family history, hematological phenotype and hemoglobin electrophoretic analysis results, the common genotypes of α and β-thalassemia were detected by PCR+diversion hybridization. DNA sequencing technology was used for rare α and β protein genes sequencing. Both subjects were combined with double rare thalassemia genotypes, and both rare thalassemia gene combinations were reported for the first time. One of them was αβ complex thalassemia with αα*53_55 del TCC/αα heterozygous merger βIVS II-2(-T)/βN heterozygous, the other was ααIVS-II-55(T→G) in α1/αα4.2-Q double azygous heterozygous α-thalassemia, among which αα*53_55 del TCC/αα genotype was also reported for the first time. The reported rare gene type αα*53_55 del TCC/αα and two cases of rare gene combinations enriches the spectrum of gene mutations in the Chinese population, and provides richer molecular information for thalassemia diagnosis and eugenics counseling.

Premarital Screening Uncovers Alarming Health Risks in Iraq

Background: Premarital screening programs, implemented globally since the 1970s, aim to improve reproductive health outcomes by identifying potential genetic and infectious risks before marriage. Specific Background: In July 2013, the Thi-Qar Governorate in Iraq introduced a premarital screening program to enhance health outcomes for pregnant women and their offspring. However, regional data on the efficacy and impact of such programs remain limited. Knowledge Gap: The prevalence and distribution of blood disorders and infectious diseases among couples in this region, and their implications for public health, have not been extensively documented. Aims: This study evaluates the pathophysiological status of couples undergoing premarital screening in Nasiriyah, Iraq, focusing on the prevalence of blood disorders and infectious diseases. Results: Data from 14,190 individuals (7095 couples) collected from January to December 2023 revealed significant health concerns: 34.40% had hemoglobin levels below 12 gm/dl, and notable percentages carried thalassemia and sickle cell anemia genes. Gender-specific analysis showed that all males tested positive for HIV, while significant proportions of females tested positive for HCV and T. palladium. No significant differences were found in the ABO blood system. Novelty: This study provides comprehensive, region-specific data on premarital screening outcomes in Iraq, highlighting significant disparities in disease prevalence between sexes and compared to other regions. Implications: The findings underscore the importance of enhancing premarital screening programs and integrating educational and preventive measures. Future research should include longitudinal studies to assess the long-term impact of these screenings and explore the benefits of incorporating genetic counseling to further mitigate hereditary and infectious risks. Highlights: High prevalence of blood disorders and infections in couples. Gender differences: all males positive for HIV, significant female infections. Need for improved education and prevention measures. Keywords: Premarital Screening, Hemoglobinopathies, Infectious Diseases, Nasiriyah, Iraq

Analysis of Thalassemia Gene Mutation Types and Ethnic Distribution Characteristics in Hechi Area, Guangxi

To investigate the genotype, mutation type, and ethnic distribution characteristics of thalassemia in the population of Hechi area, Guangxi, and to provide a reference basis for prevention and control of thalassemia and eugenic counseling in the region. Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) were used for genetic testing on suspected thalassemia persons, and the results were analyzed. Among 29 136 samples, a total of 17 016 (58.40%) positive samples for thalassemia genes were detected, with a higher detection rate in males than in females (χ2=49.917，P < 0.001). The detection rates of thalassemia genes were significant different among Zhuang, Han, Yao, Mulao, and Maonan ethnic groups (χ2=546.121, P < 0.001). The α-thalassemia genotypes were mainly --SEA /αα (16.67%), -α3.7/αα (8.90%), α CSα/αα (6.00%). Additionally, four rare genotypes were detected, including -- THAI/αα (47 cases), HKαα/αα (2 cases), --SEA /-α 21.9 (2 cases), and -- THAI/αCSα (1 case). The β-thalassemia genotypes were mainly β CD17/βN (7.49%), βCD41-42/βN (6.70%), βCD71-72/βN (0.44%). 108 cases of moderate and severe β-thalassemia were detected, of which 81 cases had a history of blood transfusion, the transfusion frequency of 60 cases was more than 10 times/year, and 10 cases received bone marrow transplantation. Thalassemia in Hechi area is predominantly deletion type --SEA /αα, the detection rate of thalassemia in ethnic minorities is higher than that in Han population. In this area, moderate and severe β-thalassemia have certain incidence, these patients mostly need regular blood transfusion and iron removal treatment, and very few patients have received bone marrow transplantation. This study provides a certain reference basis for prevention and control of thalassemia and eugenic counseling in the region.

Obstetric and Gynecology Department of RSUD dr. Soedono Provinsi Jawa

Anaemia is a condition in which the number of red blood cells or the haemoglobin concentration within them is lower than normal. Thalassemia is a Mutation of the globin gene can cause changes in the globin chain, e.g. structural haemoglobinopathy or changes in the rate of synthesis or the production ability of certain globin chains. Epidemiological research in Indonesia found that the frequency of the beta thalassemia gene ranges from 3-10%. Case report of patient Mrs. T, 27 years old, HPHT: 01-10-2023, routine ANC examination every month, ANC examination results 18-19 weeks no complaints and laboratory examination results Hb 4.7. Patients with thalassemia beta major and intermediate need to be given regular transfusions and kept their hemoglobin levels above 10 mg/dl. All patients with homozygous thalassaemia should receive folic acid supplements.

Expert consensus on clinical genetic counseling of α-thalassemia gene analysis

α-thalassemia is a type of microcytic hypochromic anemia caused by variants of alpha-globin gene, and is one of the most common monogenic disorders in southern China. The population screening model based on hematologic phenotype has achieved great results in areas with high incidence of thalassemia. However, with the continuous decline of the cost of genetic testing and implementation of screening programs for thalassemia gene carriers, more variants in the alpha-globin gene have been discovered, which also brings great challenges to clinical genetic counseling. From the perspective of alpha-globin genetic analysis, this consensus has discussed the contents of pre- and post-test genetic counseling, with an aim to provide standardized guidance for clinicians.

Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience.

This study aimed to evaluate the efficacy of α-thalassemia gene testing as a part of an antenatal intervention program over a 10-year period. All patients underwent α-thalassemia gene testing, which included the analysis of three types of deletions and mutations. Rare α-thalassemia gene testing was performed using Sanger sequencing, multiplex ligation-dependent probe amplification, and sequencing techniques. Prenatal diagnosis was performed in high-risk couples using chorionic villus sampling or amniocentesis. From 2010 to 2019, among the 91,852 patients examined, α-thalassemia mutations were identified in 41.78% of patients. The most frequent α0 gene mutation was--SEA, followed by--THAI. Two rare α0-thalassemia gene mutations at --32.8 and --230, were also observed. A total of 2,235 high-risk couples were identified, of which 562 were affected, including three with the--SEA/--THAI genotype and one with the--SEA/--230 genotype. Additionally, prenatal diagnosis revealed four cases of fetal anemia and/or mild edema, along with two cases of severe fetal edema. Chromosome and gene chip results were normal. Thalassemia gene testing showed an αCSα/αCSα genotype in four patients with anemia and/or mild edema, while two patients with severe fetal edema had one--SEA/αCSα genotype and one--SEA/--GX genotype. Using the cut-off points of 74.6fL and 24.4pg as criteria for identifying α0-thalassemia carriers and HbH disease, the detection rate of missed diagnoses in high-risk couples is consistent with national guidelines for standards, potentially saving 10,217,700 ¥. Routine molecular testing for α-thalassemia in high-risk prenatal populations effectively prevented severe α-thalassemia births. Despite the high cost, the cutoff points proposed by this study suggest that implementing screening using a new parameter has the potential to reduce current expenses.

Analysis of the Gene Mutation Type and Frequency of Thalassemia Patients in Jingzhou Area

To analyze the gene mutation types and frequence of thalassemia patients in Jingzhou area. A total of 721 suspected thalassemia patients who were visited in Jingzhou Central Hospital from June 2019 to June 2022 were selected as the research objects. There were 204 males and 517 females. PCR-reverse dot hybridization method was used to analyze the types and frequencies of 23 common α or β thalassemia gene mutations. Among the 721 patients with suspected thalassemia, 228 cases were positive for α or β thalassemia gene, with a total positive rate of 31.62%, including 87 cases of α-thalassemia, accounting for 38.16%, and 140 cases of β-thalassemia, accounting for 61.40%. There was 1 case of α β complex thalassemia, accounting for 0.44%. A total of 4 types of α-thalassemia gene mutations were detected, all of which were deletion types, including αα/--SEA (64/87, 73.56%), αα/-α3.7 (14/87, 16.09%), --SEA /-α3.7 (7/87, 8.05%), αα/-α4.2 (2/87, 2.30%). Among 140 patients with β-thalassemia, 138 were pure heterozygotes, and the genotypes of IVS-II-654M (63/140, 45.00%), CD41-42M (34/140, 24.29%), CD17M (18/140, 12.86%) and CD27-28M (10/140, 7.14%) accounted for 89.29% of all mutations (125/140), 2 cases of double heterozygosity (2/140, 1.43%) were found, no homozygous β-thalassemia were detected; 1 case of αβ complex thalassemia with genotype -α3.7/IVS-II-654M was found. The incidence of difference types of thalassemia was statistically significant (χ2=194.250, P < 0.001). The percentage of positive thalassemia genes was not significantly difference between male and female suspected patients (χ2=0.199, P =0.655). The α-thalassemia gene mutation in Jingzhou area is dominated by αα/--SEA, and the IVS-II-654M mutation is more common in β-thalassemia, and α β complex thalassemia is relatively rare, which can provide a reference for the formulation of prevention and treatment measures for thalassemia in Jingzhou area.

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.

Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing.

Hemoglobin (Hb) Lepore is a rare deletional δβ-thalassemia caused by the fusion between delta-beta genes, and cannot be identified by traditional thaltassemia gene testing technology. The aim of this study was to conduct molecular diagnosis and clinical analysis of Hb Lepore in four unrelated Chinese families using third generation sequencing. Decreased levels of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and an abnormal Hb band were observed in the probands of the four families. However, no common α and β-thalassemia variants were detected in the enrolled families using polymerase chain reaction-reverse dot blot hybridization based traditional thalassemia gene testing. Further third-generation sequencing revealed similar Hb Lepore-Boston-Washington variants in all the patients, which were resulted from partial coverage of the HBB and HBD globin genes, leading to the formation of a delta-beta fusion gene. Specific gap-PCR and Sanger sequencing confirmed that all the patients carried a similar Hb Lepore-Boston-Washington heterozygote. In addition, decreased levels of MCH and Hb A2 were observed in the proband's wife of family 2, an extremely rare variant of Hb Nanchang (GGT > AGT) (HBA2:c.46G > A) was identified by third-generation sequencing and further confirmed by Sanger sequencing. This present study was the first to report the similar Hb Lepore-Boston-Washington in Chinese population. By combining the utilization of Hb capillary electrophoresis and third-generation sequencing, the screening and diagnosis of Hb Lepore can be effectively enhanced.

Genotype and Phenotype in Pregnant Women with Both Alpha and Beta Thalassemia Mutations Attended at Vietnam National Hospital of Obstetrics and Gynecology

Introduction: The number of studies that explore people with both alpha and beta thalassemia mutations is still low, not only in Vietnam but around the world as well. We conducted this study to explore genotypes and phenotypes of pregnant women who have both alpha and beta thalassemia mutations in comparison to those who don’t have any thalassemia mutations and those who have either alpha or beta thalassemia mutations. Methods: This was a cross-sectional study conducted in the National Hospital of Obstetrics and Gynecology from September 2020 to July 2021 on medical records of 6929 pregnant women who attended the hospital between 2015 and 2021. Mutation analysis was performed by the α-Globin Strip Assay (Vienna Lab, Austria) and Strip Assay MED (Vienna Lab, Austria). Results: There were 18 pregnant women with both alpha and beta thalassemia genes, in which only SEA mutation caused alpha thalassemia and nearly 70% of beta thalassemia was caused by CD26 mutation. In comparison with pregnant women who didn’t have any thalassemia genes, those with both mutations had higher RBC, RDW, HbA2 and lower HGB, HCT, MCV, MCH, MCHC, and HbA1. We only see the statistically significant difference in HbA1 and HbA2 between those with both mutations and those with either alpha or beta thalassemia mutations. Conclusion: In conclusion, our study showed that there were differences in genotype and phenotype between pregnant women with both alpha and beta thalassemia mutations and other types of thalassemia as well as those without thalassemia.

Study of the types of mutations of Thalassemia in Shanghai area

To analyze the mutations of globin genes among patients suspected for thalassemia from the Shanghai area. A total of 4 644 patients diagnosed at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine between June 2016 and December 2019 were selected as the study subjects. The patients were tested for common mutations associated with thalassemia gene by Gap-PCR and reverse dot blotting (RDB). Patients were suspected to harbor rare mutations based on the inconsistency between hematological phenotypes and results of common mutation detection, and were further analyzed by Gap-PCR and Sanger sequencing. Among the 4 644 patients, 2 194 (47.24%) were found to carry common thalassemia mutations, among which 701 (15.09%) were α-thalassemia, 1 448 (31.18%) were β-thalassemia, and 45 (0.97%) were both α- and β-thalassemia. Forty six samples were found to harbor rare mutations, which included 17 α-globin gene and 29 β-globin gene mutations. CD77(CCC>ACC) (HBA2: c.232C>A) of the α-globin gene, NG_000007.3: g.70567_71015del449, codon 102(-A) (HBB: c.308_308delA) and IVS-Ⅱ-636 (A>G) (HBB: c.316-215A>G) of the β-globin gene were previously unreported new types of globin gene mutations. Among the 4 644 patients, the detection rate for common thalassemia mutations was 47.24%, whilst 46 samples were detected with rare gene mutations. The type of gene mutation types were diverse in the Shanghai area. The study has provided more accurate results for genetic diagnosis and counseling.

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.

Constructing a novel clinical indicator model to predict the occurrence of thalassemia in pregnancy through machine learning algorithm

Thalassemia is one of the inherited hemoglobin disorders worldwide, resulting in ineffective erythropoiesis, chronic hemolytic anemia, compensatory hemopoietic expansion, hypercoagulability, etc., and when a mother carries the thalassemia gene, the child is more likely to have severe thalassemia. Furthermore, the economic and time costs of genetic testing for thalassemia prevent many thalassemia patients from being diagnosed in time. To solve this problem, we performed least absolute shrinkage and selection operator (LASSO) regression to analyze the correlation between thalassemia and blood routine indicators containing mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), and red blood cell (RBC). We then built a nomogram to predict the occurrence of thalassemia, and receiver operating characteristic (ROC) curve was used to verify the prediction efficiency of this model. In total, we obtained 7,621 cases, including 847 thalassemia patients and 6,774 non-thalassemia. Among the 847 thalassemia patients, with a positivity rate of 67.2%, 569 cases were positive for α-thalassemia, and with a rate of 31.5%, 267 cases were positive for β-thalassemia. The remaining 11 cases were positive for both α- and β-thalassemia. Based on machine learning algorithm, we screened four optimal indicators, namely, MCV, MCH, RBC, and MCHC. The AUC value of MCV, MCH, RBC, and MCHC were 0.907, 0.906, 0.796, and 0.795, respectively. Moreover, the AUC value of the prediction model was 0.911. In summary, a novel and effective machine learning model was built to predict thalassemia, which functioned accurately, and may provide new insights for the early screening of thalassemia in the future.

Progress in the Genetic Detection of Thalassemia Based on Third-Generation Gene Sequencing --Review

Thalassemia is most widely distributed single gene autosome recessive genetic disease in the world, whose clinical manifestation was changed from asymptomatic anemia to severe anemia requiring continous blood transfusion to maintain life, thus resulting in a serious economic burden to society and families. Therefore, it is necessary to carry out the corresponding prentatal screening and diagnosis. Most of the conventional detection methods can only detect the common thalassemia genotype, it can easy to cause misdiagnosis or missed diagnosis for those rate genetic variantions. The third-generation sequecing (TGS) has been applied to the detection of thalassemia genes, which is more accurate, reliable and superior to the converntional detection methods. This article reviews the latest research progress of the TGS technology in genetic testing of thalassemia.

Prevalence of Thalassemia in Nigeria: Pathophysiology and Clinical Manifestations

There is evidence linking genes for thalassaemia, sickle cell diseases, and glucose-6-phosphate dehydrogenase (G6PD) deficiency to a high prevalence of malaria infection. Haemoglobinopathies are hereditary conditions that mostly results in thalassaemia and sickle-cell anaemia. The current global haemoglobin gene carrier population (i.e., healthy individuals who have acquired only one mutant gene from one parent) is between 1 and 5%. Some haemoglobinopathy genes (alpha-thal, beta-thal and HbS) cause alpha-thalassaemia, beta-thalassaemia and sickle-cell anaemia, respectively. Nigerians have a prevalence of 25–30% for sickle cell anaemia (SCA), G6PD, but both alpha thalassaemia and beta thalassaemia are at the lower limit. Thalassaemia and SCA have comparable clinical manifestations. which is quite prevalent in Nigeria? This could lead to underdiagnosis of thalassaemia, which accompany hypochromia and microcytosis, that could be mistaken for iron deficiency anaemia. Depending on the levels of foetal haemoglobin and haemoglobin A2, thalassemia, iron deficiency anaemia, and sickle cell disease continue to be the most common chronic types of anaemia. This review provides details information on the prevalence of thalassaemia in Nigeria and molecular mechanisms in the expression of thalassaemia genes. The authors also suggest various possible way to minimize the occurrences of thalassaemia in Nigeria

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.

Splenic abscess, a rare complication in a case of sickle cell thalassemia

Sickle cell disease (SCD) is an inherited autosomal recessive haemoglobinopathy. Sickle cell beta thalassemia is a variant syndrome of SCD characterised by the compound heterozygosity for sickle and beta thalassemia genes. We present a case of 12 year old male child diagnosed case of sickle cell thalassemia at the age of 2 years with complaints of fever, yellowish discolouration of eyes and drowsiness. USG abdomen was done suggestive of splenomegaly, multiple ill-defined, heterogeneously hypo-echoic, areas scattered throughout the splenic parenchyma with no vascularity within likely representing as splenic micro-abscesses. Child was started on antibiotics covering anaerobic and gram-positive organisms (vancomycin, meropenem, amikacin and metronidazole). Currently child is doing well with huge relieve to his symptoms.

Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China.

To analyze the composition of abnormal hemoglobin and the relationship between genotype and phenotype by screening abnormal hemoglobin in a subpopulation of Guizhou, China. Routine blood evaluation, capillary electrophoresis of hemoglobin, and mutation of α - and β - thalassemia genes were evaluated in 19,976 individuals for thalassemia screening in Guizhou. Sanger sequencing of HBA1, HBA2 and HBB genes was performed in samples with abnormal bands or unexplained increases of normal bands. The types of abnormal hemoglobin were obtained by sequence analysis. Abnormal hemoglobin was detected in 84 individuals (detection rate, 0.42%). Ten types each of α and β globin chain variants were detected, including most commonly Hb E, Hb New York and Hb Port Phillip. In this study, the abnormal Hb Mizuho was identified for the first time in a Chinese population, and a novel abnormal hemoglobin Hb Guiyang (HBA2: c.151C > A) was detected for the first time. Except for Hb Mizuho, other abnormal hemoglobin heterozygotes without thalassemia or iron deficiency had no significant hematological changes. This study enriched the molecular epidemiological data of abnormal hemoglobin in Guizhou, China and provided reference data for genetic counseling and prenatal diagnosis of abnormal hemoglobin.

A multifunctional organophosphonic ligand-templated poly(polyoxotungstate) with potential in building a genosensor for thalassemia gene detection

An organophosphonic ligand-templated PV–SbIII double-heteroatom-intercalated polyoxotungstate 1 was synthesized and the ability of the 1-based genosensor to detect the β-thalassemia gene was evaluated.