High Prevalence Of Thalassemia Research Articles

Health-related quality of life and associated factors among children with Transfusion-dependent β-thalassaemia: a cross-sectional study in Guangxi Province

BackgroundTransfusion-dependent β-thalassemia (TDT) is a severe inherited disorder. Without regular treatment, patients with TDT experience complications that can significantly shorten life expectancy and severely impact both their quality of life and that of their families. The condition has attracted significant attention in global health discussions. Due to the challenges of blood supply shortages, the high costs of iron chelation therapy, and hematopoietic stem cell transplantation (HSCT), TDT presents a serious health risk to patients and imposes a substantial burden on families and society. However, research on the health-related quality of life (HRQoL) of thalassemia patients in China remains limited. This study evaluated the factors affecting the HRQoL of these patients, with the goal of developing strategies to improve their quality of life.MethodsIn this cross-sectional study, children with TDT were recruited from five treatment centers in Guangxi, a province with a high prevalence of thalassemia in China. Structured questionnaires were employed to gather relevant data on sociodemographic variables, disease characteristics, treatments, and associated costs. The HRQoL was assessed using the Transfusion-Dependent Quality of Life (TranQoL) questionnaire, with a proxy version for patients aged 0–11 years and a child version for those aged 12–18 years.ResultsThe study included 418 participants, yielding an overall TranQoL score of 60.6 ± 16.3 among thalassemia patients. Multiple linear regression analysis revealed a negative correlation (P < 0.05) between overall TranQoL scores and several factors: increasing patient age, the presence of multiple thalassemia patients within a family, and undergoing HSCT. Conversely, adherence to regular treatment was positively correlated with higher TranQoL scores (P < 0.05).ConclusionThe study demonstrates that HRQoL among Chinese patients with TDT is at a low level. Age, treatment adherence, family support, and socioeconomic status were identified as key determinants influencing HRQoL. It is essential to further enhance and optimize health insurance policies and medical services to support comprehensive treatment strategies for these patients.

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.

Prevalence of HIV, hepatitis B and hepatitis C infections among patients with thalassemia attending a tertiary care (rural) hospital.

The Sunderban area of West Bengal is home to tribal and religious minorities inhabiting various islands. There is a high prevalence of thalassemia among poverty-stricken residents of this region living with meagre health care facilities. This work was planned to determine the proportion of four viral transfusion-transmitted infections (TTIs): HIV-1, HIV-2, hepatitis B virus (HBV) and hepatitis C virus (HCV) among thalassemia patients attending the sole rural medical college in the region. Thalassemia patients (n = 359, age ranging from 1 year to 60 years) attending the thalassemia clinic or being admitted to the indoor facilities for better management were included in the study. Only patients diagnosed with high-performance liquid chromatography (HPLC) and with classical clinical features were included in the study. Blood samples of these patients were tested for HIV as per NACO protocol. For HBV and HCV, samples were first tested serologically; reactive samples were collected and sent in the cold chain to a higher centre for nucleic acid amplification testing (NAAT) for qualitative and quantitative estimation. Clinical and laboratory data was collected, patients were followed up for complications and hospitalisation during the study period, and statistical analysis was performed. Majority of our patients had E-beta-thalassemia (245, 59.81%), followed by beta-thalassemia major (102, 28.30%). NAAT-confirmed HCV infection (14.21%) infection was the most common, followed by HBV (2.51%), and lastly by HIV-1 (0.58%) infection. Among infected thalassemia patients, the mean HCV RNA was 741063 ± 438514.67 IU/ml while the mean HBV DNA level was 4082863 ± 7298514 IU/ml. Co-infections of HIV-1 and HCV and that of HBV and HCV were noted in one patient each (0.28%). HCV-related liver disease (14.21%) and growth retardation (10.31%) were the most typical complication noted, and death occurred in five patients (1.39%) during the study period. Primary care physicians should know HCV infection is the most common TTI among thalassemia patients in rural eastern India.

Justification of Universal Iron Supplementation for Infants 6-12 months in Regions with a High Prevalence of Thalassemia.

Many clinicians hesitate to adopt a universal infant iron supplementation program due to the risk of increased iron absorption for those with thalassemia. We aimed to determine thalassemia prevalence in 6- to 12-month-old infants, along with the iron status of those with and without thalassemia. We performed a cross-sectional descriptive study of infants attending the Well Baby Clinic at Thammasat University Hospital for routine checkups. Complete blood count, hemoglobin electrophoresis, iron parameters, and molecular genetics for common α- and β-thalassemia were evaluated. Overall, 97 of 206 (47%) participants had thalassemia minor, the majority having Hb E traits. None had thalassemia intermedia or major. Familial history of anemia or thalassemia presented an increased risk of detecting thalassemia minor in offspring (OR 5.18; 95% CI 2.60-10.33, p=0.001). There were no statistical differences in transferrin saturation, serum ferritin and hepcidin between iron-replete infants with thalassemia minor and those without. However, one-third of infants with thalassemia minor (31/97) also had iron deficiency anemia (IDA), with a similar risk of having iron deficiency to infants without thalassemia. There was no hepcidin suppression in our infants with thalassemia minor as compared to controls. Both thalassemia and IDA are endemic to Southeast Asia. Infants with thalassemia minor, particularly with Hb E and α-thalassemia traits, are at risk of IDA. Our short-term universal iron supplementation program for 6- to 12-month-old infants does not appear to increase the risk of those with thalassemia minor developing iron overload in the future.

Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China

BackgroundThalassemia is an extremely prevalent monogenic inherited blood disorder in southern China. It is important to comprehensively understand the molecular spectrum of thalassemia in an area with such a high prevalence of thalassemia before taking appropriate actions for the prevention and treatment of this disorder. Herein, we explored the clinical feasibility of using next-generation sequencing (NGS) for large-scale population screening to illustrate the prevalence and spectrum of thalassemia in Southern Jiangxi.MethodsBlood samples collected from 136,312 residents of reproductive age in Southern Jiangxi were characterized for thalassemia by NGS. A retrospective analysis was then conducted on blood samples determined to be positive for thalassemia.ResultsIn total, 19,827 (14.545%) subjects were diagnosed as thalassemia carriers, and the thalassemia prevalence rate significantly varied by geographical region (p < 0.001). A total of 40 α-thalassemia genotypes including 21 rare genotypes were identified, with -@-SEA/αα being the most prevalent genotype. 42 β-thalassemia genotypes including 27 rare genotypes were identified, with the most common mutation IVS II-654 C > T accounting for 35.257% of these β-thalassemia genotypes. Furthermore, 74 genotypes were identified among 608 individuals with combined α- and β-thalassemia. Notably, most individuals with rare thalassemia mutations had mildly abnormal hematologic parameters including microcytic hypochromia.ConclusionsOur findings demonstrate the great heterogeneity and diverse spectrum of thalassemia in Southern Jiangxi, emphasizing the importance and necessity of persistent prevention and control of thalassemia in this region. Additionally, our findings further suggest that NGS can effectively identify rare mutations and reduce the misdiagnosis rate of thalassemia.

Effective screening of hemoglobin Constant Spring and hemoglobin Paksé with several forms of α- and β-thalassemia in an area with a high prevalence and heterogeneity of thalassemia using capillary electrophoresis

Background and aimsWe aimed to evaluate the efficiency of identification and quantification of hemoglobin (Hb) Constant Spring (CS) and Hb Paksé by capillary electrophoresis (CE). Materials and methodsBlood samples collected from 2057 patients were used for identifying and quantifying Hb by CE. Molecular analysis of α- and β-thalassemia, Hb CS, and Hb Paksé was performed. ResultsHb CS and Hb Paksé were identified in 573 samples (27.86%) with diverse genotypes. Thirty-eight samples (6.6%) showed no Hb CS peak. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of Hb CS by CE were 93.37, 95.96, 89.92, 97.40, and 95.24%, respectively. The amount of Hb CS in those carrying Hb CS was 0.2–6.5% which showed an increasing trend according to the number of defective α-globin genes, in contrast to Hb A2 levels, which decreased. Hb CS level ≥1.0% accurately excluded heterozygotes and that of ≥2.0% could identify homozygotes. ConclusionCE has the high potential for identifying and quantifying Hb CS and Hb Paksé, especially in an area with a high prevalence of thalassemia. Hb CS levels can be used as a potential marker to distinguish the genotype of individuals carrying Hb CS.

Predictors of health state utility values using SF-6D for Chinese adult patients with β-thalassemia major.

Patients with β-thalassemia major (β-TM), predominantly adult patients, are associated with physical, mental, and social problems, that result in decreased quality of life (QoL). However, there is a paucity of data on QoL and health status utility (HSU) among adult patients with β-TM in mainland China. Our study aimed to evaluate the QoL by short form 36 questionnaire (SF-36) of adult patients with β-TM in mainland China and to estimate their HSU by SF-6D. In addition, we aimed to identify predictors of HSU. In this cross-sectional descriptive study, a total of 75 adult patients with β-TM were included by the snowball sampling method that applied involving seven provinces with a relatively high prevalence of thalassemia across mainland China between September 1, 2021 and January 31, 2022. The collected information included social-demographic characteristics, health conditions, treatment, social support (social support rating scale), caregiver burden (Zarit burden interview), and QoL (SF-36). HSU scores were calculated for each adult patient from their SF-36 responses using the SF-6D algorithm with Hong Kong's tariff. The frequency of participants' responses to the SF-6D for each item of the options was described. Mean HSU scores between different subgroups were calculated. Ordinary least squares (OLS) regression modeling was performed to identify factors associated with HSU. A total of 75 adult patients with β-TM were included in this study. The mean SF-36 score was 50.2 ± 10.70, of which physical and mental scores were 47.57 ± 11.28 and 52.85 ± 14.21, respectively. In addition, the mean SF-6D utility score was estimated to be 0.598 ± 0.112, ranging from 0.391 to 0.962. Univariate analyses showed that interruption of iron chelation treatment significantly affected HSU values (P = 0.038); diagnosis with comorbidity very slightly affected HSU values (P = 0.0996). In the multivariate analysis, diagnosis with comorbidity (P = 0.042) was significantly negatively associated with HSU values; the minimum pre-transfusion hemoglobin concentration (P = 0.047) and social support (P = 0.068) were positively associated with HSU values. This study presents poor QoL and HSU outcomes in Chinese adult patients with β-TM. The study also highlights the importance of social support and treatment compliance, which can increase hemoglobin content and reduce comorbidities, further to ensure the QoL of patients. These findings can be used for future clinical and economic studies.

COVID-19 in Patients with Transfusion Dependent Thalassemia (TDT) in Indonesia: Characteristics of the Disease and Patients, and Comparison between Epidemiological Data for COVID-19 and Thalassemia in Indonesia and Southeast Asia.

Background: People living with transfusion dependent thalassemia have a high risk of becoming infected with COVID-19. This can be caused by both internal factors, namely the formation of alloantibodies and autoimmune disorder, and external factors such as routine visits for blood transfusions. Chronic complications of thalassemia also render them more vulnerable to infectious diseases, including COVID-19. However, anecdotal data shows that thalassemia patients experience less incidence of COVID-19 compared to the general population. Purpose: This study aims to find the correlation between COVID-19 in thalassemia-dependent transfusion patients in Indonesia and Southeast Asia. Patients and Methods: This study used a cross-sectional design. The study was conducted at the Division of Hematology and Medical Oncology of the Cipto Mangunkusumo Hospital in Jakarta from May 2020–August 2021. The total sampling method was used involving all thalassemia major patients who had been infected with COVID-19 (obtained directly from medical record and through the thalassemia patients-parents foundation). Results: From 10,397 patients with thalassemia, 67 (0.64%) people were infected by COVID-19 and 2 (2.9%) were deceased. Meanwhile, the incidence of COVID-19 in the general population of Indonesia was 0.87% (more than in the thalassemia population). This means that thalassemia might provide additional protection against COVID-19 due to several mechanisms. This phenomenon has also been seen in other countries with a high prevalence of thalassemia, wherein there are less COVID-19 cases despite the pandemic. On the contrary, countries with low rates of thalassemia had experienced deadly surges of the pandemic. Conclusion: Indonesia and other countries with a high prevalence of thalassemia have lower COVID-19 incidence than countries with low prevalence of thalassemia. Thalassemia might provide additional protection against COVID-19. Well-designed studies are needed to provide better evidence on the protective effect of thalassemia on COVID-19.

COVID-19 in patients with transfusion dependent thalassemia in Indonesia: characteristics of the disease and patients, and comparison between epidemiological data for COVID-19 and thalassemia in Indonesia and South-East Asia

People living with transfusion dependent thalassemia have a high risk of getting infected by COVID-19. This can be caused both by internal factors, namely the formation of alloantibodies and autoimmune disorders, and external factors such as routine visits for blood transfusions. Chronic complications of thalassemia also render the patients more vulnerable to infectious diseases, including COVID-19. However, anecdotal data shows that thalassemia patients have less incidence of COVID-19 if compared to the general population. This study aims to find the correlation between COVID-19 in thalassemia-dependent transfusion patients in Indonesia and South-East Asia. This research used a cross-sectional design. The study was conducted at the Division of Haematology and Medical Oncology of the Cipto Mangunkusumo Hospital in Jakarta, from May 2020 to August 2021. Total sampling method was used involving all thalassemia major patients who had been infected with COVID-19 obtained directly from medical records and through the thalassemia patients’ parents foundation. In 10,397 patients with thalassemia, 67 (0.64%) people were infected by COVID-19 and two (2.9%) died. Meanwhile, the incidence of COVID-19 in the general population of Indonesia was 0.87%, more than in the thalassemia population. This means that thalassemia might provide additional protection against COVID-19 due to several mechanisms. This phenomenon is also seen in other countries with a high prevalence of thalassemia, which show less COVID-19 cases despite the pandemic. On the contrary, countries with low rates of thalassemia carriers had experienced deadly surges of the pandemic. Indonesia and other countries with a high prevalence of thalassemia have lower COVID-19 incidence than countries with a low prevalence of thalassemia. Thalassemia might provide additional protection against COVID-19. Well designed studies are needed to provide better evidence on the protective effect of thalassemia against COVID-19.

Evaluation of diagnostic accuracy tests of erythrocyte indexes in the differential diagnosis of beta thalassemia minor and iron deficiency anemia: A preliminary report

Purpose: The most common anemias are iron deficiency anemia (IDA) and beta-thalassemia minor (BTm). A correct differantiation of them is important in terms of preventing unnecessary iron treatment and also preventing thalassemia disease. Considering the financial limitations specifically in countries with high prevalence of thalassemia, mathematical indices, which are simpler solutions, have been used to achieve a differential diagnosis. &#x0D; Materials and Methods: Total of 71 cases eligible for inclusion criteria were included in the study and 11 indices were examined. 46 of the cases were in the BTm-group and 25 of the cases were in the IDA-group. The BTm-group were accepted as positive-patient-group and the IDA-group were accepted as control-group. Diagnostic criteria were evaluated with erythrocyte indices.&#x0D; Results: The highest Youden Index was seen in the Sirdah index (89.48%), followed by two identical performances of the Ehsani and the Mentzer indices (84.%), indicating that these three indices showed the best diagnostic performance. There were two indices with a low performance (DOR

Developing a databank for multiple transfusion patients: Rh antigen and phenotype distribution among 3000 regular blood donors in Iran

BackgroundRhesus (Rh) blood group system is clinically the most significant protein-based grouping system. The Rh system is of vital importance in blood transfusion, and incompatibility between the donor and recipient leads to alloimmunization. Alloimmunization is commonly seen in multiple-transfusion recipients (e.g. thalassemia patients). There are a few studies about the prevalence of Rh antigens, except for D, in Iran; and regarding the high prevalence of thalassemia in the country, in this study we have determined antigens and phenotypes of the Rh among population of regular blood donors with the aim of developing a detailed Rh databank. Materials and methodsThis cross-sectional study randomly enrolled 3000 regular blood donors from three provinces of Sistan-Balouchestan, Khuzestan and Gilan in Iran, from September 2018 to May 2019. A fully automated system, based on hemagglutination, was used to Rh typing of blood samples. ResultsThe prevalence of Rh antigens were as follows: D: 88.9 %; E: 30.9 %; C: 74.1 %; e: 96.2 %; and c: 72.8 %. The most common antigen and phenotype were "e" and R1r (DCcee), respectively. ConclusionDue to the high rate of alloimmunization incidence against Rh blood group antigens among multiple transfusion recipients, development of regular blood donor's Rh databank can facilitate extensive matching for the Rh antigens and it likely reduces the risk of alloimmunization.

Hb S (HBB: c.20A>T) and α- and β-Thalassemia Coinheritance in Iranian Patients

Hb S (HBB: c.20A>T) and α- and/or β-thalassemia (α- and/or β-thal) coinheritance is a common genetic disorder in regions with a high prevalence of thalassemia and sickle cell disease. The clinical manifestations of this coinheritance vary from mild to severe complications. Iran is a country with a high incidence of thalassemia and sickle cell disease. This study aimed to evaluate the coinheritance of sickle cell disease with α- and/or β-thal in Iranian patients. In this cross-sectional study from 2018–2019, a total of 47 participants with the Hb S abnormality, who were referred to the Zafar Thalassemia Clinic (Tehran, Iran), were selected as a study group. Molecular analysis for the evaluation of α and β gene mutations was performed in all participants. Hb SS, Hb S/β-thal and Hb S/Hb D-Punjab (also known as Hb D-Los Angeles, Hb D-Chicago, Hb D-North Carolina, Hb D-Portugal and Hb Oak Ridge) (HBB: c.364G>C) were detected in 21 (44.7%), 23 (48.9%) and three (6.4%) patients, respectively. α Gene mutations were also detected in five patients with Hb S/β-thal, four patients with sickle cell disease and one patient with Hb S/Hb D-Punjab. In the current study, –α3.7/αα with β gene abnormalities was the most common genotype. Our study showed that the coinheritance of sickle cell disease with α- and β-thal is common and evaluation of these disorders, especially in pre marriage screening is important for diagnosis and management strategies.

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia.

BackgroundThalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but an increasing number of cases from northern China have been recently reported.MethodsDuring 2012 to 2017, suspected thalassemia people were detected for common α‐ and β‐thalassemia mutations by gap‐Polymerase Chain Reaction (PCR) and reverse dot blot (RDB) analysis in Peking Union Medical College Hospital. One thousand and fifty‐nine people with thalassemia mutations were analyzed retrospectively. We picked mutated individuals who originally came from northern areas, and conducted telephone follow‐up survey in order to collect their ancestral information. Besides, we used “thalassemia”, “mutation”, and “Southeast Asian countries” as keywords to search the relevant studies in PubMed and Embase databases.ResultsAll carriers included in our study were resided in northern China. Among them, 17.3% were native northerners and 82.7% were immigrants from southern China. Although substantial difference was found in α‐ and β‐thalassemia ratio and detailed spectrum of α‐ and β‐globin mutation spectrum between our data and data obtained from a previous meta‐analysis literature focused on southern China, the most common gene mutations were the same. Similar β‐thalassemia mutation spectrum was found among Thai, Malaysian Chinese, and Guangdong people, however, no other similarities in gene profile were found between Chinese and other ethnic groups in Southeast Asia.ConclusionChinese people in different areas had similar gene mutation, whereas they had significantly different mutation spectrums from other ethnic groups in Southeast Asia.

Marital status and paternity in patients with Transfusion- Dependent Thalassemia (TDT) and Non Transfusion-Dependent Thalassemia (NTDT): an ICET - A survey in different countries.

Background: More than five decades ago, thalassemia major (TDT) was fatal in the first decade of life. Survival and quality of life have improved progressively thanks to the implementation of a significant advance in diagnostic and therapeutic methods, consisting mainly of a frequent transfusion program combined with intensive chelation therapy. Improvement also includes imaging methods used to measure liver and cardiac iron overload. Improved survival has led to a growing number of adults requiring specialised care and counselling for specific life events, such as sexual maturity and acquisition of a family. Aims of the study: The main aim is to present the results of a survey on the marital and paternity status in a large population of adult males with TDT and NTDT living in countries with a high prevalence of thalassemia and a review of current literature using a systematic search for published studies. Results: Ten out of 16 Thalassemia Centres (62.5%) of the ICET-A Network, treating a total of 966 male patients, aged above 18 years with β- thalassemias (738 TDT and 228 NTDT), participated in the study. Of the 966 patients, 240 (24.8%) were married or lived with partners, and 726 (75.2%) unmarried. The mean age at marriage was 29.7 ± 0.3 years. Of 240 patients, 184 (76.6%) had children within the first two years of marriage (2.1 ± 0.1 years, median 2 years, range 1.8 - 2.3 years). The average number of children was 1.32 ± 0.06 (1.27 ± 0.07 in TDT patients and 1.47 ± 0.15 in NTDT patients; p: >0.05). Whatever the modality of conception, 184 patients (76.6%) had one or two children and 1 NTDT patient had 6 children. Nine (4.8%) births were twins. Of 184 patients, 150 (81.5%) had natural conception, 23 (12.5%) required induction of spermatogenesis with gonadotropins (hCG and hMG), 8 (4.3%) needed intracytoplasmic sperm injection (ICSI) and 3 adopted a child. 39 patients with TDT and NTDT asked for medical help as they were unable to father naturally: 7 TDT patients (17.9%) were azoospermic, 17 (37.7%) [13 with TDT and 4 with NTDT] had dysspermia and 15 (33.3%) [13 with TDT and 2 with NTDT] had other “general medical and non-medical conditions”. Conclusions: Our study provides detailed information in a novel area where there are few contemporary data. Understanding the aspects of male reproductive health is important for physicians involved in the care of men with thalassemias to convey the message that prospects for fatherhood are potentially good due to progressive improvements in treatment regimens and supportive care. (www.actabiomedica.it)

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of carriers compared with traditional tests. The aim of this study was to assess the potential value of ECS for clinical application in Southern China, a region with high prevalence of thalassemia and with diverse ethnic groups, and to provide a reference for future implementations in areas with similar population characteristics. A total of 10,476 prenatal/preconception couples from 34 self-reported ethnic groups were simultaneously tested and analyzed anonymously for 11 Mendelian disorders using targeted next-generation sequencing. Overall, 27.49% of individuals without self-reported family history of disorders were found to be carriers of at least 1 of the 11 conditions, and the carrier frequency varied greatly between ethnic groups, ranging from 4.15% to 81.35%. Furthermore, 255 couples (2.43%) were identified as carrier couples at an elevated risk having an affected baby, sixty-five of which would not have been identified through the existing screening strategy, which only detects thalassemia. The modeled risk of fetuses being affected by any of the selected disorders was 531 per 100,000 (95% CI, 497–567 per 100,000). Our data demonstrate the feasibility of ECS, and provide evidence that ECS is a promising alternative to traditional one-condition screening strategies. The lessons learned from this experience should be applicable for other countries or regions with diverse ethnic groups.

The burden of thalassemia in Punjab: A roadmap forward

β-thalassemia is one of the commonest monogenic disorders in India and Punjab is significantly impacted with an estimated 4700 patients with thalassemia major. Like several other states in India with a high prevalence of thalassemia, Punjab is confronted with the fact that the magnitude of the problem is poorly defined, and there is no clear roadmap for thalassemia control within the context of a National Thalassemia Control Program. There is a paucity of clinical research in the state of Punjab with respect to the incidence, prevalence, morbidity and mortality related to thalassemia, and this project is intended to generate exact data with regards to the above. This article looks at a “Project Rainbow”, a potential strategy by which the Central and Punjab Governments, NGOs, Parents-Patients Societies and Corporate Houses can work together to intervene at each stage of the thalassemia care giving process and reduce the burden of Thalassemia in Punjab.

Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A] Compromises the Molecular Diagnosis of β-Thalassemia in a Chinese Family

The combination of β-thalassemia (β-thal) and a hemoglobin (Hb) variant is not uncommon in regions with a high prevalence of thalassemia. Although most of the β-globin chain variants will not aggravate the β-thal, some can compromise the accurate molecular diagnosis. In this study, we present a rare case of coinheritance of β-thal and Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A], that compromises the molecular diagnosis of homozygous β-thal.

Urinary Iodine in Egyptian Patients with Thalassemia Major: A Focus on its Potential Contributing Impact on Consequent Hypothyroidism

Background: Primary hypothyroidism is one of the most frequent endocrine complications observed in patients suffering from thalassemia where iodine deficiency is a major contributing factor. We aim at assessing the iodine status in multitransfused pediatrics with thalassemia major, compliant to iron chelation, to evaluate its contributing role to the occurring hypothyroidism for the potential future replacement therapy. Procedure: Sixty young thalassemia patients (31 males, 29 females; aged 14.4 ± 3.83 years) were randomly selected from the hematology clinic of the Children’s Hospital, Cairo University, added to 36 age and sex matched control subjects. Results: The study revealed a highly significant difference in urinary iodine, FT3, FT4 and TSH between the thalassemic group and their controls (P 10 uIU/ml), and 34/36 had normal urinary iodine level. Severe iodine deficiency was manifested in 9/60 patients (15%), moderate deficiency in 27/60 patients (45%) and mild deficiency in 24/60 patients (40%). A negative correlation was found between urinary iodine and both serum ferritin and TSH (r=-0.413 at P<0.001, r=-0.881 at P<0.001; respectively). Conclusion: To this end, iodine deficiency is at least partially responsible for the high prevalence of thalassemia–induced hypothyroidism among Egyptian young patients.

High prevalence of thalassemia in migrant populations in Guangdong Province, China.

BackgroundThe objectives of this study were to estimate the prevalence of thalassemia and to analyze the need for public health services for migrant populations in different cities in Guangdong Province, China.MethodsA cross-sectional survey was conducted in 21 cities of Guangdong Province. Twenty-three types of a- and β-globin gene mutations were detected in a total of 14,230 pregnant women and 14,249 husbands.ResultsThere was a 16.45% prevalence of thalassemia among the 28,479 individuals, and the prevalences of α-, β-, and combined α-/β- thalassemia were 12.03%, 3.80%, and 0.63%, respectively. Compared with the native city residents in the province, the migrants from within the province and the immigrants from outside the province had lower prevalences of thalassemia, but the prevalence values were >11%.ConclusionsThe prevalence values for thalassemia gene mutations were high in all three population groups studied in Guangdong Province. The results indicate that all segments of the Guangdong population should be screened for thalassemia.

Prevalence of Anemia and Underlying Iron Status in Naive Antiretroviral Therapy HIV-Infected Children with Moderate Immune Suppression

Anemia is common in HIV-infected children and iron deficiency is thought to be a common cause. This study investigates the prevalence of anemia, thalassemia, and underlying iron status in Thai and Cambodian children without advanced HIV disease to determine the necessity of routine iron supplementation. Antiretroviral (ARV)-naive HIV-infected Asian children aged 1-12 years, with CD4 15-24%, CDC A or B, and hemoglobin (Hb) ≥7.5 g/dl were eligible for the study. Iron studies, serum ferritin, Hb typing, and C-reactive protein were assessed. Anemia was defined as Hb <11.0 g/dl in children <5 years of age or <11.5 g/dl in children 5-12 years. We enrolled 299 children; 57.9% were female and the mean (SD) age was 6.3 (2.9) years. The mean (SD) CD4% and HIV-RNA were 20% (4.6) and 4.6 (0.6) log(10) copies/ml, respectively. The mean (SD) Hb and serum ferritin were 11.2 (1.1) g/dl and 78.3 (76.4) μg/liter, respectively. The overall iron deficiency anemia (IDA) prevalence was 2.7%. One hundred and forty-eight (50%) children had anemia, mostly of a mild degree. Of these, 69 (46.6%) had the thalassemia trait, 62 (41.8%) had anemia of chronic disease (ACD), 9 (6.1%) had thalassemia diseases, 3 (2.0%) had iron deficiency anemia, and 5 (3.4%) had IDA and the thalassemia trait. The thalassemia trait was not associated with increased serum ferritin levels. Mild anemia is common in ARV-naïve Thai and Cambodian children without advanced HIV. However, IDA prevalence is low; with the majority of cases caused by ACD. A routine prescription of iron supplement in anemic HIV-infected children without laboratory confirmation of IDA should be discouraged, especially in regions with a high prevalence of thalassemia and low prevalence of IDA.