Prevalence Of Thalassemia Research Articles

Genotypic spectrum of α-thalassemia and β-thalassemia in newborns of the Li minority in Hainan province, China.

To explore the genotypes and allele frequencies of α, β and α+β thalassemias in Li minorities, which resided in Hainan Province of China for a long time. In the present study, 1,438 newborns of the Li minority were collected from January 2020 to April 2021. The genotypes of thalassemia were detected by fluorescence PCR and verified by flow-through hybridization PCR analyses. Rare genotypes were detected by restriction fragment length polymorphism electrophoresis and Sanger DNA sequencing. Among 1,438 participants, 1,024 (71.2%) were diagnosed with any kind of thalassemia. Among all thalassemia carriers, 902 (88.09%) subjects were diagnosed with α-thalassemia, and 18 subtypes of α-thalassemia were detected, with the top three genotypes being -α4.2/αα (25.39%), -α3.7/αα (22.62%) and αWSα/αα (16.96%). Thirty-two (3.13%) patients were β-thalassemia carriers, and 6 types of β-thalassemia genotypes were detected. The top two genotypes were βCD41-42/βN (46.88%) and β-28/βN (18.75%). Additionally, 90 (8.79%) cases were α + β-thalassemia, and the top two genotypes were -α3.7/αα, βCD41-42/βN (30.00%) and -α4.2/αα, βCD41-42/βN (26.67%). Furthermore, two genotypes (-α4.2/HKαα and βCD76 GCT > CCT/βN) were first identified in Hainan Province, and βCD76 GCT > CCT/βN was first identified in China. Newborns of Li have a higher prevalence of thalassemia for a long period, and further education on the impact of thalassemia, follow-up studies of the clinical manifestation and treatment and proper intervention methods should be designed to reduce the burden of thalassemia and enhance the quality of life in Li newborns.

Educational Intervention to Improve Knowledge and Attitudes about Thalassemia Premarital Screening Surveys among Muslim Societies: A Pilot Study in Indonesia

Premarital screening is an effective preventive intervention to decrease the prevalence of thalassemia. However, the use of premarital screening is still low in Indonesia. This study assesses the effect of educational interventions on the knowledge and attitudes of Muslim couples regarding premarital screening for thalassemia in Indonesia. This pilot study used a pre-posttest design that included 17 premarital couples in Banyumas District. The participant’s knowledge and attitude regarding premarital screening for thalassemia were measured using a paper-based questionnaire before and after the intervention. The participants received a class-based lecture about thalassemia screening and were provided a handbook containing lecture material to read at home. The knowledge and attitude score was analyzed using Wilcoxon and Kruskal-Wallis test. The knowledge score significantly increased after the intervention, but the proportion of positive attitudes did not differ significantly. The participants knew that premarital screening for thalassemia was necessary; however, it did not affect their marriage decision. Thus, educational intervention increases the knowledge and shapes the attitude of couples toward thalassemia premarital screening but is inadequate for changing their behavior. Further exploration of the factors that affect the behavior of couples is needed to increase the use of premarital screening among couples in Indonesia.

Behind the Scene of the Prevalence of Anaemia: An Extended Way of Reporting.

To develop the methods for an extended reporting of anaemia and to measure the status of the key contextual underlying factors of anaemia. Statistical appraisal of haemoglobin vs. key influencers of anaemia in Bangladesh--the intake of animal source food (ASF), concentration of iron in the drinking groundwater (GWI) and the prevalence of congenital haemoglobin disorder (CH) are conducted. The primary data of the National Micronutrient Survey 2011-12 and the British Geological Survey 2001 are analysed to assess the intake of ASF and the GWI concentration respectively. The prevalence of thalassaemia from a national survey is used to appraise the CH. ASF is evaluated relative to the 97.5th percentile intake and group-scores are assigned. Association of the GWI and haemoglobin is examined by the linear-fit and the mspline-fit and the group-scores are allocated. Group-score is allocated for prevalence of thalassaemia. Inflammation adjusted ferritin is considered to report haemoglobin. A nationwide survey in Bangladesh. Preschool children (PSC, 6-59 months), School Age Children (SAC, 6-14 years) and Non-pregnant Non-lactating Women (NPNLW, 15-49 years). The extended reporting to the prevalence of anaemia in Bangladeshi preschool children, school children and women are -- anaemia 33% [ASF: 2.08; GWI: 1.75; CH: 2], anaemia 19% [ASF: 1.98; GWI: 1.56; CH: 2], and anaemia 26% [ASF: 2.16; GWI: 1.58; CH: 2] respectively. The extended reporting of anaemia is a useful tool to understand the status of the key influencers of anaemia, to design the context-customised intervention and to monitor the intervention.

Prevalence of thalassemia and sickle cell anaemia carriers among antenatal women– A first study from Telangana population

Beta thalassemia and sickle cell anaemia (SCA) are highly prevalent and inherited preventable blood disorders that require lifelong blood transfusions and contribute to infant and childhood morbidity and mortality. It is mandate to prevent these disorders to save the children from life long suffering by initiating stringent screening programs. A total of 2478 antenatal women visiting Modern Govt. Maternity hospital (MGMH), Petlaburz, Hyderabad (2000) and Primary Health Care centers of Balanagar (254) and Rajapur (224) in Mahbubnagar district were screened for thalassemia and SCA using Complete blood count followed by High Performance Liquid Chromatography to detect the carrier status. Husbands were screened in case of carrier women and if both the couple were carriers then they were advised for prenatal diagnosis. Out of the 2478 antenatal mothers screened, a carrier frequency of 3.05% and 4.6% was detected for different types of hemoglobinopathies from MGMH and PHC’s respectively. Of the different types of thalassemia, beta thalassemia was the predominant one with a frequency of 2.15% from MGMH and 2.9% from PHC’s. Three couples were found to be thalassemia carriers and went for prenatal diagnosis. In all the three cases the fetus was found to be normal and they are continuing with the pregnancy. The present study is the first one to report the carrier frequency of thalassemia and SCA among antenatal women from Telangana population. This study warrants the need for screening antenatal women for these disorders during their early trimester in order to reduce the incidence of affected births.

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.

Burden of Thalassemia in Iraq

Thalassemia is a common hereditary hemoglobinopathy that occurs all over the world, mostly in the middle and low-income countries. We set this study to study the demographic and clinical profile of thalassemia patients, and to highlight the burden of this disorder on the health system, in Iraq. This cross sectional survey was carried out during the period from January through June 2022 in the two major centers of thalassemia in Baghdad. All thalassemia patients that were attending those centers during a six-month period, were included. The direct and indirect annual cost of medicines and health services were computed. The prevalence of thalassemia is slopping up, with the estimated annual cost of health care regarding diagnosis, treatment, blood transfusions and other services for each thalassemia patients is $6815. The indirect health care services were $3995, making the total annual cost for each thalassemia patient $10810. It is proven that consanguineous marriages increase the prevalence of Thalassemia. Public policies aimed at clarifying this for the population would be relevant. The annual cost for thalassemia patients in Iraq is relatively high, most of which is covered by the Ministry of Health and its institutions. This causes a burden on the health system. Also, adopting new policies to reduce the costs especially through finding substitutes (or less costly therapy) for blood chelating agents, is crucial on the long term strategy

Complications during Delivery Hospitalizations in Women with Thalassemia: An Analysis of the National Inpatient Sample Database (2002-2019)

Background: Women with thalassemia generally have some degree of anemia that is exacerbated during pregnancy. A few studies have shown an association of thalassemia with adverse pregnancy outcomes like intrauterine growth restriction and low birth weight. However, there is a paucity of data regarding the burden of maternal complications during hospitalization for delivery. Methods: The National Inpatient Sample Database (NIS) was queried with the International Classification of Disease, Ninth Revision, and Tenth Revision (ICD-9, ICD-10) codes to identify delivery hospitalizations and thalassemia diagnosis. To strengthen the statistical analysis, case-control matching was performed for age, race, and general co-morbidities like diabetes, hypertension, hypothyroidism, liver disease, obesity, smoking, drug abuse, alcohol use disorder, and electrolyte abnormalities to match delivery hospitalizations with thalassemia to delivery hospitalizations without thalassemia. With the matched data, thalassemia hospitalizations were further subclassified into 'alpha-thalassemia', 'beta-thalassemia’ and 'thalassemia-other'. A secondary multinominal logistic regression was performed to account for median income, admission type, insurance type, preterm and/ or c-section deliveries in addition to the previously mentioned comorbidities to generate the odds ratio for the preselected outcomes. We also compared the cost-of-care for delivery hospitalization with among the three groups of thalassemia patients compared to those without thalassemia. Results: A data sample that constituted of 14,514,439 (14.5 million) delivery hospitalizations without thalassemia and 19,764 hospitalizations with thalassemia (0.1% of the sample) between 2002-2019 was taken. Unadjusted analysis revealed patients with thalassemia were older than those without thalassemia (30.1 years vs 28.3 years, p<0.001), had higher prevalence of obesity (4.7% vs 1.9%, p<0.001), hypothyroidism (4.6% vs 2.6%, p<0.001), liver disease (0.7% vs 0.2%, p<0.001), diabetes mellitus (1.2% vs 1.0%, p<0.001), chronic hypertension (0.4% vs 0.2%), and multiple gestation (2.7% vs 1.9%, p<0.001). Patients with thalassemia were also more likely to be black (24.4% vs 14.1%, p<0.001), or Asian/ Pacific Islanders (27.4% vs 5.5%, p<0.001) (Figure 1). A total of 17944 hospitalizations with thalassemia were matched with their 17944 counterparts by case-control matching. A multinominal logistic regression assessing for major outcomes revealed that patients with thalassemia of any type had higher odds of requiring a blood transfusion during the hospitalization- alpha thalassemia: odds ratio (OR)= 3.52, (95% CI: 2.57-4.83; p<0.001), beta-thalassemia: OR= 4.77, (95% CI: 3.62-6.28; p<0.001), thalassemia-unspecified: OR= 3.03, (95% CI: 2.58-3.55; p<0.001). Patients with thalassemia of any type also had a statistically higher risk of coagulopathy, preeclampsia, post-partum hemorrhage, and cardiac arrhythmias. An independent-samples Mann-Whitney U test revealed patients with thalassemia had a statistically higher median cost of hospitalization ($15,565 v $12,400; p<0.001). There was no statistical difference in length of stay or all cause mortality between patients with thalassemia compared to those without thalassemia. Conclusion: Despite an overall low prevalence of thalassemia in the US, these results suggest that pregnant women with thalassemia are at a higher risk of complications during hospitalization for delivery. This is especially important when considering that thalassemia is disproportionally more prevalent in minority groups. Though anemia is strongly associated with poor pregnancy outcomes, whether the genetic abnormalities with thalassemia confers additional risk merits further study. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

Anemia, iron deficiency, and thalassemia among the Thai population inhabiting at the Thailand-Lao PDR-Cambodia triangle

Anemia is a major public health problem in many areas of Southeast Asia. Ascertaining anemia and defining its underlying causes is essential for providing appropriate care, management, and establishment of a control program. Limited studies on these have been carried out on people living at the borders of Thailand, Lao PDR, and Cambodia. This cross-sectional study was done in four areas along the borders of Thailand, Lao PDR, and Cambodia. Blood specimens were collected from subjects aged 15–18 years in four districts including Kantharalak, Si Sa Ket province (n = 36), Nam Khun (n = 109), Nam Yuen (n = 98), and Na Chaluai (n = 128), Ubon Ratchathani province, Thailand. RBC parameters were recorded, and serum ferritin (SF) level was measured. Diagnosis of thalassemia and hemoglobinopathies was based on hemoglobin (Hb) and DNA analyses. Measurement of C-reactive protein was performed to exclude false-negative result of iron deficiency. The prevalence of anemia was found to be 25.1%. ID accounted for only 10.5%. Various types of thalassemia were identified in 67.7% of the subjects. The overall prevalence of thalassemia included 3.5% α0-thalassemia, 0.8% β-thalassemia, 47.7% Hb E, and 53.6% α+-thalassemia. The proportions of ID, thalassemia and combined ID and thalassemia among anemic subjects were 6.5%, 66.6%, and 20.4%, respectively. The results indicate that thalassemia and hemoglobinopathies rather than ID are major causes of anemia in Thailand-Lao PDR-Cambodia triangle. This information should prove useful for implementing an anemia control program in the regions.

A prospective study on prevalence of thalassemic gene disorder and hemoglobinopathies in pregnancy: Antenatal and intranatal outcome in a hospital-based population of Eastern India

Background: Thalassemia syndromes are autosomal recessive disorders and the most commonly inherited hemoglobinopathies in the world. Among these, β-thalassemia is the most common type of thalassemia in Eastern India and in West Bengal. Thalassemic mothers are more predisposed to maternal complications such as hypertensive disorders, gestational diabetes mellitus (GDM), and adverse neonatal outcome in terms of low birth weight, prematurity, etc. This study was to assess the effect of thalassemia gene disorder and hemoglobinopathies (thal-hbpathy) on fetomaternal health. Aims and Objectives: This study was done to evaluate the effect of thal-hbpathy on fetomaternal health and to compare their antenatal, intranatal outcome with control unaffected mothers, and with anaemic non-thalassemic mothers. Materials and Methods: This is a prospective and observational study of 150 women who attended tertiary care hospital during 18 months, fulfilling pre-defined inclusion and exclusion criteria. All women were evaluated during antenatal and intranatal period. Observations were recorded and interpreted. Results: Among 150 participants, 80(53.3%) were having normal hemoglobin (Hb) level and normal hemoglobin high performance liquid chromatography(Hb-HPLC), 54(36.7%) had anemia (Hb &lt;10.9g/dl) with normal Hb pattern on HPLC, and 16(10.66%) had thal-hbpathy. Hb-HPLC revealed β-thalassemia trait in 7.3%, E β-thalassemia trait in 0.7%, whereas HbE heterozygous 2.7% in our study population. Majority (15/16) of thal-hbpathy patients were anemic. Oligo-hydramnios was detected in 18.7% of thalassemic women as compared to anemic (3.7%) and normal group (3.7%), which were significant. Obstetric cholestasis (OC) 12.5%(2/16) and intrauterine growth restriction (IUGR) were observed in thal-hbpathy group antenatal patients which were statistically significant P&lt;0.05. Conclusion: Overall prevalence of thalassemia was 10.7%. The important fetomaternal complications observed were prematurity, IUGR, OC, oligohydramnios, OC(PIH), and GDM.

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family

AimsHb Akron (HBB:c.158A>T) is a rare β-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations...

Mental Stress of Parents Having Thalassemic Children

Background: Thalassaemia is an emerging global public health concern. It is considering as a rapidly growing major health burden for low- and middle income countries. The prevalence of thalassaemia is increasing in Bangladesh, indicates that thalassemia will be an emerging health burden for our country. Objective: To assess the level of mental stress among parents with a thalassemic child. Materials and Methods: A cross-sectional study was conducted among the 141 parents with a thalassemic child in the purposively selected two hospitals’ Dhaka Shishu Hospital and Bangladesh Thalassemia Hospital in Dhaka. ‘Parental stress scale’ (PSS) was used to measure the level of stress. Results: The mean age of the parents was 36.2±8.8 years and nearly two-thirds (63.8%) of them were aged below 40 years. Almost half of the participants (49.6%) and their spouses (59.6%) completed their education upto the higher secondary level. The mean monthly family income was 27,113.5±46,696.9 taka. More than half of the parent’s (53.2%) had low level of mental stress. The education, occupation, monthly family income, presence of &gt;1 thalassaemic child in family, received blood from a voluntary blood donor, normal growth of thalassaemic child and history of thalassaemic child death were significantly associated with the level of mental stress by PSS scores of the parents (p&lt;0.05). The level of stress was low among the parents, whose educational level was up to primary level (68.6%), occupation as a business (68.4%), monthly family income ≥50,001 taka (85.7%), presence of &gt;1 beta thalassaemia major child (47.6%), received blood from a voluntary blood donor (50.0%), had a history of normal growth of thalassaemic child (60.4%) and had no history of thalassaemic child death (50.0%). Conclusion: Existence of the children with thalassemia in a family cause massive stress and anxiety for parents. Psychological supports for them are essential as a part of comprehensive medical care along with clinical management of the thalassemic child. The burden of disease can be reduced through effective preventive approaches, such as carrier screening, prenatal counseling and diagnosis. KYAMC Journal Vol. 13, No. 02, July 2022: 102-107

Prevalence and Genetic Analysis of Thalassemia and Hemoglobinopathy in Different Ethnic Groups and Regions in Hainan Island, Southeast China.

Background: There are limited studies on the molecular profile of thalassemia in Hainan, the free trade island in China. Our aim was to reveal the prevalence and molecular mutation spectrum of thalassemia in different ethnic groups and regions of Hainan through a large sample study for the first time. Methods: A total of 231,596 individuals from 19 cities and counties in Hainan were screened by hematological parameter analysis, and further genetic analysis was performed on individuals with MCV less than 82 fL. Results: Totally, 31,780 (13.72%) subjects were diagnosed as thalassemia carriers. The overall prevalence of α-thalassemia, β-thalassemia, and α+β-thalassemia were 11.04%, 1.48%, and 1.20%, respectively. We further analyzed the molecular profiles of thalassemia in various ethnic groups and mainly compared the difference between Han and Li. The results showed that the frequency of thalassemia in the Li population (47.03%) was much higher than that in Han (9.37%). Except for β-thalassemia (1.31% of Li vs. 1.47% of Han), the frequencies of α-thalassemia (39.59% of Li vs. 7.35% of Han) and α+β-thalassemia (6.13% of Li vs. 0.56% of Han) in the Li were obviously higher than those in Han. The high-frequent genotypes of α-thalassemia in Han were αα/--SEA (25.55%), -α3.7/αα (22.17%), -α4.2/αα (21.59%), αWSα/αα (8.93%), and -α3.7/-α4.2 (4.17%) and those of Li were -α4.2/αα (17.24%), -α3.7/αα (17.16%), -α3.7/-α4.2 (15.09%), αWSα/αα (9.69%), and αWSα/-α3.7 (8.06%), respectively. The αα/--SEA was the highest genotype of α-thalassemia in Han but only accounted for 1.87% in Li. For β-thalassemia, the top three high-frequent genotypes in both Han and Li were βCD41/42(-TTCT)/βN, β-28(A>G)/βN, and βIVS-Ⅱ-654(C>T)/βN, but the frequency of βCD41/42(-TTCT)/βN in Li (90.96%) was much higher than that in Han (56.32%) and the data reported in other provinces of China. Additionally, the prevalence of thalassemia ranged from 8.16% to 34.35% in Hainan, Wuzhishan, Baoting, Qiongzhong, and Baisha have a higher prevalence than other areas. Conclusion: Our study revealed the characteristics of ethnic and regional differences in the prevalence of thalassemia in the childbearing age population of Hainan for the first time, indicating that the prevalence of thalassemia among Li nationality is the highest in China. Those findings will be useful for genetic counseling and the prevention of thalassemia.

Prevalence and molecular characterization of common thalassemia among people of reproductive age in the border area of Guangxi-Yunnan-Guizhou province in Southwestern China

ABSTRACT Objectives: Thalassemia, the most common global monogenetic disorder, is highly prevalent in southern China. Epidemiological and molecular characterization of thalassemia is important for designing appropriate prevention strategies in high-risk areas, especially the border area of Guangxi-Yunnan-Guizhou province in southwestern China. Methods: We recruited 38812 reproductive age couples and screened them for thalassemia. Routine blood tests as well as hemoglobin components and levels were evaluated. In addition, suspected thalassemia were identified by gap polymerase chain reaction (Gap-PCR) and PCR-based reverse dot blot (PCR-RDB). Results: The overall prevalence of thalassemia was 26.76%. Specifically, incidences of α-thalassemia, β-thalassemia, and concurrent α- and β-thalassemia were 17.52%, 6.92%, and 2.32%, respectively. The diagnosed α-thalassemia anomalies were associated with six gene mutations and 25 genotypes. The β-thalassemia anomalies were associated with 12 gene mutations and 15 genotypes. Moreover, among the 1799 concurrent mutated α- and β-thalassemia genes, 95 different genotypes were identified. Couples in which both partners were positive for α-thalassemia and β-thalassemia isotypes were 8.80% and 2.08%, respectively. The proportion of couples at a risk of having children with thalassemia major or intermedia was high. Conclusions: This study elucidates on the prevalence and molecular characterization of thalassemia in the border area of Guangxi-Yunnan-Guizhou provinces. These findings provide valuable baseline data for genetic counseling and prenatal diagnosis, with the overarching goal of preventing and controlling severe thalassemia.

Screening of Thalassemia Carrier Traits in Students Using the One Tube Osmotic Fragility Method

Thalassemia is an inherited disorder resulting from a mutation or deletion of a gene that causes one of the globin chains to experience a decrease or cessation in the rate of synthesis. This leads to a decrease in the rate of haemoglobin synthesis. The highest prevalence of thalassemia in the world is found in tropical countries. The incidence of thalassemia carriers in Indonesia ranges from 6-10%. Thalassemia screening can be carried out by several examinations, including one tube osmotic fragility (OTOF) examination, red blood cell index, peripheral blood morphology and electrochemistry of haemoglobin. This study aimed to examine the screening of thalassemia carriers in undergraduate students using osmotic fragment examination of the OTOF method. This study used descriptive methods with 100 TLM D3 female students not yet known to have thalassemia. Univariate analyses were carried out. The results of the capillary blood samples indicated that 12% of the students were positive (indicating a suspected carrier of thalassemia) and 88% were negative according to the OTOF method using a hypotonic solution of 0.36% NaCl. From the positive OTOF results, the percentage of haemolysis was measured with varying results (17% - 65%). Those who had positive OTOF results in general were without significant symptoms. The findings accentuate that early detection of thalassemia is important.&#x0D; Keywords: thalassemia, OTOF, microcytic, hypochromic

Epidemiologic Trends of Thalassemia, 2006-2018: A Nationwide Population-Based Study.

Thalassemia is the most common form of hereditary anemia. Here, we aimed to investigate the 13-year trend of the epidemiologic profiles and risk of comorbidities in thalassemia using a nationwide population-based registry in Korea. Diagnosis of thalassemia, the comorbidities and transfusion events in patients with thalassemia were identified in the Korean National Health Insurance database, which includes the entire population. The prevalence of thalassemia increased from 0.74/100,000 in 2006 to 2.76/100,000 in 2018. Notably, the incidence rate has nearly doubled in the last 2 years from 0.22/100,000 in 2016 to 0.41/100,000 in 2018. The annual transfusion rate gradually decreased from 34.7% in 2006 to 20.6% in 2018. Transfusion events in patients with thalassemia were significantly associated with the risk of comorbidities (diabetes: odds ratio [OR] = 3.68, 95% confidence interval [CI] = 2.59–5.22; hypertension: OR = 3.06, 95% CI = 2.35–4.00; dyslipidemia: OR = 1.72, 95% CI = 1.22–2.43; atrial fibrillation: OR = 3.52, 95% CI = 1.69–7.32; myocardial infarction: OR = 3.02, 95% CI = 1.09–8.38; stroke: OR = 3.32, 95% CI = 2.05–5.36; congestive heart failure: OR = 2.83, 95% CI = 1.62–4.97; end-stage renal disease: OR = 3.25, 95% CI = 1.96–5.37). Early detection of comorbidities and timely intervention are required for the management of thalassemia.

The prevalence and outcomes of α- and β-thalassemia among pregnant women in Hubei Province, Central China: An observational study.

There is no information concerning the prevalence of thalassemia among pregnant women in Hubei Province currently. This study is aimed to explore the prevalence of α- and β-thalassemia genotypes among pregnant women in Hubei Province, and to explore the clinically applicable screening approach, as well as to investigate the pregnancy outcomes of α- and β-thalassemia carriers.Pregnant participants were recruited from 4 hospitals for the screening of α- and β-thalassemia mutations in Hubei Province. Polymerase Chain Reaction and flow cytometry methods were used to examine α- and β-thalassemia mutations. The hematological parameters and pregnancy outcomes of α- and β-thalassemia carriers were obtained from the hospital information system. The chi-square tests were used to evaluate the difference in hematological parameters between pregnant thalassemia carriers and the control group.Among 11,875 participants, 414 (3.49%) were confirmed with α-thalassemia carriers, 228 (1.92%) were confirmed with β-thalassemia carriers, and 3 (0.03%) were confirmed with both α- and β-thalassemia carriers. The frequency of –α3.7 accounted for 2.05% and it was the most frequent genotype of α-thalassemia; the proportion of IVS-II-654 was 0.85% and it was the most frequent genotype of β-thalassemia in Hubei Province. Furthermore, the proportion of patients with low mean corpuscular volume (MCV) or mean cell hemoglobin (MCH) values was accounted for 36.64% and 93.97% among α-thalassemia and β-thalassemia carriers, respectively. And participants with normal MCV and MCH values were accounted for 95.07% among non-thalassemia participants. High prevalence of pregnancy-induced diabetes (16.97%), preterm birth (9.96%), pregnancy-induced hypertension (8.12%), and low birth weight (5.90%) were observed among pregnant thalassemia carriers.MCV and MCH values were suggested to apply on the preliminary screening of pregnant β-thalassemia; however, it's unpractical on that of α-thalassemia. Furthermore, thalassemia carriers might have a high risk of negative pregnancy outcomes. These findings could be useful for the preliminary screening of thalassemia and perinatal care for the pregnant thalassemia carriers.

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.

Study of Blood Groups and Rhesus Factor in Beta Thalassemia Patients Undergoing Blood Transfusions

Beta thalassemia is the most common genetic blood disease, affecting millions of people in both developing and developed countries including Iraq. Patients with thalassemia require frequent blood transfusions, which can cause a variety of complications. Several researches have looked into the link between ABO blood groups and diseases. The associations of ABO blood group with thalassemia have not been extensively studied. In order to know the prevalence of thalassemia according to age, gender and blood group frequency, a study was conducted on 200 individuals, 100 of them were a control sample, which was considered a standard sample, while the rest 100 individuals were infected with beta thalassemia. The study aims to find out any relationship between the frequency of blood group phenotypes and susceptibility to thalassemia compared to the control sample. Our findings indicate that the prevalence of thalassemia was higher in female patients than in male patients. Found in the lowest age group 15-19 years. There was a significant difference (P 0.05) in the frequency of ABO blood groups that was O>B>A>AB. A significant difference of Rh factor (P<0.01) was found in the patients compared with the control group. The current study indicated the importance of the studied blood groups, as they are sources for detecting the risks of inheriting beta thalassemia or the variability in the likelihood of its appearance, and they can be used with other laboratory tests in genetic counseling.

The differences of lactate dehydrogenase and activin A levels among thalassemia major and non-thalassemia

Background: Indonesia is located in the global thalassemia belt region, with major thalassemia prevalence that increase every year. Ineffective erythropoiesis (IE) is a condition that is commonly found in major thalassemia. An increase in lactate dehydrogenase (LDH) level and Activin A level was found in major thalassemia patient, that is caused by ineffective erythropoiesis (IE) and other factors. However until now, there is still no known studies that compare LDH level and Activin A level in major thalassemia and non-thalassemia. The aim of the study is to evaluate difference between LDH level and Activin A level in major thalassemia and non-thalassemia.Methods: An observational analytical study with cross sectional design was conducted in March – September 2020, which consist of 25 major thalassemia patients in Dr. R. Soedjati Grobogan Public Hospital and Dr. R. Soetrasno Rembang Public Hospital, and 25 healthy population with equivalent age. LDH levels were measured using photometry and Activin A levels were measured using ELISA. Differences between LDH levels and Activin A levels in major thalassemia and non-thalassemia were analyzed using Independent Sample T test, which p &lt; 0.05 was considered significant.Results: There is a significant difference (p=0.00) between LDH levels in major thalassemia (524.48 ± 167.44 U/L) and non-thalassemia (294.48 ± 131.24 U/L). There is a significant difference (p = 0.04) between Activin A levels in major thalassemia (118.75 ± 45.47 pg/ml) and non-thalassemia (95.66 ± 26.26 pg/ml).Conclusion: Hypoxia due to IE and the formation of ROS due to repeated transfusions causes an increase in LDH levels and Activin A levels in thalassemia major patients, indicated by a significant difference between LDH levels and Activin A levels in thalassemia major and non-thalassemia.