ABSTRACT
BACKGROUND: Hemoglobin (Hb), a red pigment of red blood cells (RBCs), carries oxygen from the lungs to different organs of the body and transports carbon dioxide back to the lungs. Any fault present in the Hb structure leads to undesirable functional effects of the RBCs, such as sickle cell anemia (SCA), thalassemia, etc. Hemoglobinopathies affect around 7% of people in both developed and developing countries globally. The aim of the present study was to determine the prevalence and carrier frequencies of hemoglobinopathies including SCA, thalassemia, and other abnormal Hb variants among Malayali tribes in the Jawadhu hills of Tiruvannamalai district, Tamil Nadu, India. METHODS: A community-based cross-sectional study was carried out among 443 Malayali tribes inhabiting the Jawadhu hills of Tiruvannamalai district from July 2022 to September 2022. The RBC indices were analyzed using an automated 5-part hematology analyzer (Mindray, BC-5150) and hemoglobin fractions were done using the HPLC system (Bio-Rad, D-10) following standard protocols. FINDINGS: A total of 443 participants were screened, out of whom 14.67% had an abnormal Hb fraction, 83.30% were identified as normal, and 2.03% were borderline. Notably, the study revealed a prevalence of 0.68% for the α-thalassemia trait and 13.99% for the ß-thalassemia trait. INTERPRETATION: Haemoglobinopathies, specifically the ß-thalassemia trait, were most prevalent among the Malayali tribal population of Tamil Nadu residing in the Jawadhu hills of Tiruvannamalai district. Hence, we need special attention for creating awareness, increasing hemoglobinopathies screening programs, and improving the importance of tribal health conditions by the government and non-governmental organizations (NGOs) for the betterment of the ethnic tribes.
Subject(s)
Hemoglobinopathies , Humans , India/epidemiology , Cross-Sectional Studies , Prevalence , Hemoglobinopathies/epidemiology , Male , Female , Adult , Adolescent , Middle AgedABSTRACT
Sickle cell diseases, ß-thalassemia, and other hemoglobinopathies are common in Africa. Their distribution differs from one region to another. There are higher frequencies in Western and Northern Africa. Their clinical complications presented a real public health problem in each country. For this, early treatment can improve the severity of these diseases. Hemoglobinopathies targeted by screening are associated with SCD, ß, and α thalassemia. Our study aim is to report our experience with newborn screening for hemoglobinopathy in Tunis. The 156 newborn's cord blood was collected at the time of childbirth in the center region (Farhat Hached Hôspital). We opted for hemoglobin exploration to achieve maximum efficiency and effectiveness in screening. After that, all patients suspected to have hemoglobinopathies are affected by molecular investigation. Our findings showed the presence of some hemoglobinopathies such as ß-thalassemia and α-thalassemia with the following frequencies: 12% and 0.33%. The molecular results show the presence of HBB: c.93-21G>A, IVS-I-110G>A, HBBc. -106G>A -56G>C, HBBc.404T>C, Hb Yaounde described for the first time in Tunisia and α 3,7 . In conclusion, newborn screening diagnoses neonates with different examples of hemoglobinopathies, which will be beneficial not only for the care of the child but also for genetic counseling of the potential risk's parents.
Subject(s)
Hemoglobinopathies , Neonatal Screening , Humans , Infant, Newborn , Tunisia/epidemiology , Neonatal Screening/methods , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Hemoglobinopathies/genetics , Female , Male , beta-Thalassemia/diagnosis , beta-Thalassemia/epidemiology , beta-Thalassemia/geneticsABSTRACT
REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years. An observational, descriptive, multicentre and ambispective study of adult and paediatric patients with haemoglobinopathies and rare anaemias registered in REHem was performed. The data are from a cross-sectional analysis performed on 1 June, 2023. The study population comprised 1,756 patients, of whom 1,317 had SCD, 214 had thalassaemia and 224 were diagnosed with another condition. Slightly more than one third of SCD patients (37%) were diagnosed based on neonatal bloodspot screening, and the mean age at diagnosis was 2.5 years; 71% of thalassaemia patients were diagnosed based on the presence of anaemia. Vaso-occlusive crisis and acute chest syndrome continue to be the most frequent complications in SCD. HSCT was performed in 83 patients with SCD and in 50 patients with thalassaemia. Since the previous publication, REHem-AR has grown in size by more than 500 cases. SCD and TM are less frequent in Spain than in other European countries, although the data show that rare anaemias are frequent within rare diseases. REHem-AR constitutes an important structure for following the natural history of rare anaemias and enables us to calculate investment needs for current and future treatments.
Subject(s)
Hemoglobinopathies , Registries , Humans , Spain/epidemiology , Male , Female , Child , Hemoglobinopathies/epidemiology , Hemoglobinopathies/diagnosis , Child, Preschool , Adult , Infant, Newborn , Cross-Sectional Studies , Adolescent , Infant , Rare Diseases/epidemiology , Neonatal Screening , Middle Aged , Young Adult , Follow-Up Studies , Thalassemia/epidemiology , Thalassemia/therapyABSTRACT
Thalassemia major is one of the health problems in Iraq, especially in Kurdistan. Pre-marriage mandatory preventive screening program was established in Kurdistan in 2008, which allowed us to study the prevalence of different hemoglobinopathies among newly married young adults in this region. A total of 1154 subjects (577 couples) attending the Koya district, premarital Health center, were screened using red cell indices. Those who had mean corpuscular volume (MCV)<80 fl and mean corpuscular hemoglobin (MCH)<27 pg had high-performance liquid chromatography and iron studies. Out of 1154 individuals that were evaluated, 183 (11.9%) had low MCV and MCH. Of the former 183 subjects, 69 (5.97%) had ß-thalassemia trait, 10 (0.86%) had δß-thalassemia trait, and no other hemoglobinopathies were recorded in our study. There was second-degree consanguinity in 4.7% of all 577 couples. In two couples, both partners had ß-thalassemia trait and both were consanguineous. Both couples decided to separate after counseling. Based on the current study, the role of the premarital screening program in decreasing the number of new thalassemia major cases among the Kurdish population is laudable. Therefore, mandatory premarital screening is advised in all parts of Iraq.
Subject(s)
Hemoglobinopathies , beta-Thalassemia , Young Adult , Humans , beta-Thalassemia/diagnosis , beta-Thalassemia/epidemiology , beta-Thalassemia/genetics , Iraq/epidemiology , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Hemoglobinopathies/genetics , Erythrocyte Indices , Mass Screening , Premarital ExaminationsABSTRACT
Data on hemoglobin (Hb) variants in southern Thailand are lacking. This study aimed to reassess the frequency of Hb variants and the clinical aspects of compound heterozygous Hb variant with other hemoglobinopathies. We enrolled 13,391 participants from ten provinces in southern Thailand during 2015-2022. Hb analysis was performed using capillary electrophoresis, and mutations in the HBA and HBB genes were identified using PCR or DNA sequencing. Hb variants were identified in 337 (2.5%) unrelated subjects. Nine ß-chain variants, namely Hb Malay (76.9%), Hb C (10.1%), Hb D-Punjab (2.9%), Hb G-Makassar (2.3%), Hb Dhonburi (2.3%), Hb Tak (1.4%), Hb J-Bangkok (1.4%), Hb New York (0.3%), and Hb Hope (0.3%), and four α-chain variants-Hb G-Georgia (HBA1) (0.9%), Hb G-Georgia (HBA2) (0.3%), Hb Q-Thailand (0.6%), and Hb St. Luke's-Thailand (0.3%)-were identified. The southern population exhibited a distinct spectrum of Hb variants compared to that observed in the populations from other areas. Several compound heterozygous genotypes were also identified. Combining Hb Malay with Hb E or high Hb F determinants did not require a blood transfusion. This study provides essential information for genetic counseling in thalassemia prevention and control programs in this region.
Subject(s)
Hemoglobins, Abnormal , Molecular Epidemiology , Humans , Thailand/epidemiology , Female , Male , Hemoglobins, Abnormal/genetics , Adult , Middle Aged , Hemoglobinopathies/genetics , Hemoglobinopathies/epidemiology , Adolescent , Mutation , Young Adult , Child , Heterozygote , AgedABSTRACT
Introduction. The first neonatal screening program in Colombia PREGEN was set up in the medical private sector of Bogotá in 1988. We report the results from recent years that, given the scarcity of similar information in our country, may help estimate the frequency of the evaluated neonatal disorders and which ones should be included in the neonatal screening programs in our country. Objective. To describe the results of PREGEN´s newborn screening program between 2006 and 2019. Materials and methods. We analyzed databases and other informative documents preserved in PREGEN from the 2006-2019 period. Results. One in every 164 newborns screened in our program had an abnormal hemoglobin variant, and one in every 194 carried some hemoglobin S variant. Glucose-6- phosphate dehydrogenase deficiency and congenital hypothyroidism are next as the more common disorders. Conclusions. Abnormal hemoglobin causes the most frequent monogenic disorder in the world. Glucose-6-phosphate dehydrogenase deficiency is the most common enzymopathy affecting nearly 400 million individuals worldwide. Since both disorders are more common in people of African descent and confer some resistance to malaria, we believe that screening for both disorders may be more relevant in the areas with African ancestry in our country.
Introducción. En Colombia, el primer programa de tamizaje neonatal, PREGEN, inició labores en el sector privado de Bogotá en 1988. En este artículo se presentan los resultados obtenidos en los últimos años, que, dada la carencia de estos estudios en el país, pueden servir para evaluar la frecuencia de aparición de los trastornos congénitos evaluados y estimar cuáles de ellos deben ser objeto de tamizaje neonatal a nivel nacional. Objetivos. Reportar los resultados del programa de tamizaje PREGEN entre el 2006 y el 2019. Materiales y métodos. Para este análisis se examinaron las bases de datos y otros documentos informativos de PREGEN para el periodo 2006-2019. Resultados. Uno de cada 164 recién nacidos tamizados en el programa PREGEN en Bogotá presentó una variante anormal de la hemoglobina y uno de cada 194 es portador de hemoglobina S. Los siguientes dos trastornos más frecuentes encontrados fueron la deficiencia de la enzima glucosa-6-fosfato deshidrogenasa (frecuencia 1:2.231) y el hipotiroidismo congénito (frecuencia 1:3.915). Conclusiones. Las hemoglobinopatías mostraron ser uno de los desórdenes monogénicos más comunes, seguidos por la deficiencia de glucosa-6-fosfato deshidrogenasa y el hipotiroidismo congénito. Se calcula que cerca de 400 millones de personas en el mundo están afectadas por la deficiencia de glucosa-6-fosfato deshidrogenasa, por lo cual es la enzimopatía más común en el mundo. Como ambos desórdenes son más frecuentes en poblaciones de origen africano y confieren algún grado de resistencia a la malaria, es de prever que su tamizaje debe ser de mayor importancia en las zonas con ancestros africanos en Colombia.
Subject(s)
Glucosephosphate Dehydrogenase Deficiency , Neonatal Screening , Colombia/epidemiology , Humans , Infant, Newborn , Glucosephosphate Dehydrogenase Deficiency/diagnosis , Glucosephosphate Dehydrogenase Deficiency/epidemiology , Glucosephosphate Dehydrogenase Deficiency/genetics , Private Sector , Congenital Hypothyroidism/diagnosis , Congenital Hypothyroidism/epidemiology , Anemia, Sickle Cell/diagnosis , Anemia, Sickle Cell/epidemiology , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiologyABSTRACT
AIMS: The importance of screening for hemoglobinopathies is well-documented in India. However, information on the distribution of hemoglobinopathies in Karnataka is lacking. The present study focuses on determining the spectrum of hemoglobinopathies for various districts of Karnataka. MATERIALS AND METHODS AND RESULTS: A retrospective analysis of samples registered for hemoglobinopathies for a period of 5 years (2017-2021) was carried out. A total of 17066 records registered only from the Karnataka region, were anonymized and retrieved. The data included gender, age, district, and results of the tests. The results were based on complete blood count, peripheral smear, and capillary electrophoresis (CE) pattern. The data were revalidated by pathologists, and the unambiguous data were analyzed for the study. One-fourth of the records (25%) showed abnormal hematological parameters. The number of female records (66%) was twice that of males and both genders showed higher distribution of thalassemia, followed by variants and double heterozygotes (DH). Several cases of thalassemia major were identified below the age of 17 years. The majority of thalassemia cases were ß thal and 93% of them were ß thal trait. Among the variants, HbS was more prevalent than HbE. Among the districts, Hassan had a 35.2% thal, Mysuru had a 7.2% variant, and Chitradurga had a 5.5% DH. Thalassemia, variants, and DH were distributed across several districts of Karnataka to various levels. CONCLUSION: The comprehensive retrospective analysis of the spectrum of hemoglobinopathies in various districts of Karnataka serves as evidence to carry out a prospective study on population screening where the incidence of thalassemia and structural variants is high.
Subject(s)
Hemoglobinopathies , Humans , Retrospective Studies , Male , Female , India/epidemiology , Hemoglobinopathies/epidemiology , Hemoglobinopathies/genetics , Hemoglobinopathies/diagnosis , Adolescent , Adult , Child , Child, Preschool , Young Adult , Infant , Middle Aged , Prevalence , Thalassemia/epidemiology , Thalassemia/genetics , Infant, NewbornABSTRACT
Hemoglobin (Hb) disorders are among the most common monogenic diseases affecting nearly 7% of the world population. Among various Hb disorders, approximately 1.5% of the world population carries ß-thalassemia (ß-Thal), affecting 40,000 newborns every year. Early screening and a timely diagnosis are essential for ß-thalassemia patients for the prevention and management of later clinical complications. However, in Africa, Southern Europe, the Middle East, and Southeast Asia, where ß-thalassemia is most prevalent, the diagnosis and screening for ß-thalassemia are still challenging due to the cost and logistical burden of laboratory diagnostic tests. Here, we present Gazelle, which is a paper-based microchip electrophoresis platform that enables the first point-of-care diagnostic test for ß-thalassemia. We evaluated the accuracy of Gazelle for the ß-Thal screening across 372 subjects in the age range of 4-63 years at Apple Diagnostics lab in Mumbai, India. Additionally, 30 blood samples were prepared to mimic ß-Thal intermediate and ß-Thal major samples. Gazelle-detected levels of Hb A, Hb F, and Hb A2 demonstrated high levels of correlation with the results reported through laboratory gold standard high-performance liquid chromatography (HPLC), yielding a Pearson correlation coefficient = 0.99. This ability to obtain rapid and accurate results suggests that Gazelle may be suitable for the large-scale screening and diagnosis of ß-Thal.
Subject(s)
Antelopes , Hemoglobinopathies , beta-Thalassemia , Infant, Newborn , Humans , Animals , Child, Preschool , Child , Adolescent , Young Adult , Adult , Middle Aged , beta-Thalassemia/diagnosis , beta-Thalassemia/epidemiology , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Chromatography, High Pressure LiquidABSTRACT
BACKGROUND: Hemoglobinopathies are a group of diseases that include those due to globin gene mutations, such as thalassemia major (TM) and thalassemia intermedia (TI) or due to alteration of hemoglobin structure such as sickle cell disease (SCD), as well as a combination of these conditions such as thalasso-drepanocytosis (TD). They constitute the most frequent hereditary anemias requiring blood transfusion. MATERIALS AND METHODS: In April 2022, a questionnaire was sent to the Transfusion Services (TS) of Sicily, Sardinia and the Maltese National Blood Transfusion (MNBT) service. The questionnaire was divided into a generic part including the number of patients followed and the type of hemoglobinopathy, and a section relating to transfusion therapy, including the number of units transfused, whether red blood cells (RBC) were washed and, finally, a section relating to the presence or absence of alloantibodies and their identification. RESULTS: Data was retrieved for 2,574 patients: 68.6% TM, 15.4% TI, 10.3% TD, 4.1% SCD, and 1.6% other hemoglobinopathies (OHA). The number of RBC units transfused was 76,974, equivalent to 24.5% of all the RBCU transfused from the total number of patients followed. The number of washed RBCU was 21.1% of all the units used; 337 patients (37%) were diagnosed with alloantibodies, the majority of which were patients with SCD (20.6%). Of the 485 alloantibodies found, 90.3% were identified. The antibodies found most frequently were related to the Kell system (41.7%) followed by antibodies to the Rhesus system (37.9%); 29.7% of patients had more than one antibody. DISCUSSION: From our study, certain indications can be formulated: complete the National Registry for patients with hemoglobinopathies; create a Registry of alloimmunized patients to ensure transfusion therapy is as safe as possible, considering antibody evanescence; and 3) increase the recruitment of blood donors of diverse ethnicities.
Subject(s)
Anemia, Hemolytic, Autoimmune , Anemia, Sickle Cell , Hemoglobinopathies , beta-Thalassemia , Humans , Isoantibodies , Sicily/epidemiology , Malta , Erythrocytes , Hemoglobinopathies/epidemiology , Hemoglobinopathies/therapy , Blood Transfusion , Anemia, Sickle Cell/therapyABSTRACT
The Danish national haemoglobinopathy screening programme seeks to determine parental haemoglobinopathy carrier state antenatally. In this retrospective register-based study, we evaluated the 16-year trajectory of this programme, utilising the Danish Red Blood Cell Centre's laboratory database, covering approximately 77% of the Danish population. During the study period, we observed a substantial increase in annual diagnostic examinations performed, from 389 in 2007 to 3030 in 2022. Women constituted 88% of these cases, aligning with the emphasis of the screening programme. Of these, 54% of women of reproductive age (15-40 years) and 10% of women >40 years were specified as pregnant. During our study period, 61 children were born with a severe haemoglobinopathy, out of which 23 children were born from mothers not residing in Denmark during their first trimester thus not included in the screening programme. Prenatal invasive testing was performed for 60 fetuses, identifying 12 with homozygous or compound heterozygous haemoglobinopathy. The Danish haemoglobinopathy screening programme has provided screening, information and reproductive choices for numerous families. During the study period, screening for haemoglobinopathies has been steadily increasing and is expected to continue to increase. Awareness of and adherence to the screening programme is subject of further investigation and optimisation.
Subject(s)
Hemoglobinopathies , Child , Pregnancy , Female , Humans , Adolescent , Young Adult , Adult , Prevalence , Retrospective Studies , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Surveys and Questionnaires , Denmark/epidemiologyABSTRACT
Accurate laboratory screening for sickle cell disease and other haemoglobin disorders is expanding worldwide. Two new reports describe different methods and strategies for screening in Mali and Denmark, respectively, and their encouraging results suggest that countries should tailor their screening programmes according to local needs, resources and opportunities. Commentary on: Guindo et al. Potential for a large-scale newborn screening strategy for sickle cell disease in Mali: a comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood. Br J Haematol 2024;204:337-345 and Gravholt et al. The Danish national haemoglobinopathy screening programme: report from 16 years of screening in a low-prevalence, non-endemic region. Br J Haematol 2024;204:329-336.
Subject(s)
Anemia, Sickle Cell , Hemoglobinopathies , Infant, Newborn , Humans , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Anemia, Sickle Cell/diagnosis , Anemia, Sickle Cell/epidemiology , Neonatal Screening/methods , Fetal Blood , HemoglobinsABSTRACT
BACKGROUND: In the last few decades, the life expectancy of patients with transfusion-dependent thalassaemia (TDT) and sickle cell disease (SCD) has improved significantly, in part because of improved iron chelation. Fertility challenges and pregnancy complications have historically limited reproductive options in this group; however, improved multi-disciplinary care has made infertility a chronic disease complication requiring attention. Despite this, there are very few reports and no Australian data describing fertility and pregnancy outcomes in this population. AIMS: To identify the rate of assisted reproductive technologies (ART) utilisation in our female transfusion-dependent haemoglobinopathy patients and to establish the nature of maternal and neonatal complications in this cohort. METHODS: A 20-year retrospective analysis (1997-2017) at an Australian centre captured data on conception rates, use of assisted reproductive techniques (ART), and pregnancy and neonatal outcomes in female transfusion-dependent haemoglobinopathy patients. RESULTS: Conception was attempted in 14 women (11 TDT and three SCD) during the study period. A total of 28 pregnancies resulting in 25 live births were recorded. ART supported 13 conceptions. A positive association was not identified between elevated mean serum ferritin and ART use; however, all patients with an established diagnosis of hypogonadotropic hypogonadism (HH) required ART. Maternal complications included gestational diabetes mellitus and post-partum haemorrhage. There were no cardiac complications. Two-thirds of women underwent lower segment caesarean section, with prematurity complicating 20% of births. There were no neonatal or maternal deaths. CONCLUSION: Pregnancy is an achievable goal for women with transfusion-dependent haemoglobinopathies, although the support of ART may be required in a subset of patients.
Subject(s)
Cesarean Section , Hemoglobinopathies , Infant, Newborn , Pregnancy , Humans , Female , Retrospective Studies , Australia/epidemiology , Reproductive Techniques, Assisted , Pregnancy Outcome/epidemiology , Hemoglobinopathies/complications , Hemoglobinopathies/epidemiology , Hemoglobinopathies/therapyABSTRACT
BACKGROUND: PCR, Sanger sequencing and NGS are often employed for carrier screening of thalassemia but all of these methods have limitations. In this study, we evaluated a new third-generation sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) to explore the prevalence of thalassemia in the Dongguan region of southern China. METHODS: 19,932 subjects were recruited for thalassemia screening and hemoglobin testing was performed for each of them. Routine PCR was performed for all the hemoglobin testing-positive subjects and CATSA was conducted for randomly selected subjects from hemoglobin testing-positive and negative subjects. RESULTS: In the 2716 subjects tested both by PCR and CATSA, 2569 had the same results and 147 had discordant results between the two methods. Sanger sequencing, specially designed PCR and MLPA confirmed the results of CATSA were all correct. In total, CATSA correctly detected 787 subjects with variants while routine PCR correctly detected 640 subjects with variants. CATSA yielded a 5.42% (147 of 2716) increment compared with routine PCR. In the 447 hemoglobin testing-negative subjects, CATSA identified pathogenic variants in 12 subjects. Moreover, CATSA identified a novel deletion (chr16:171262-202032) in the α-globin gene cluster. As a result, the deduced carrier frequency of α-thalassemia,ß-thalassemia and α-/ß-thalassemia was 5.62%, 3.85% and 0.93%, respectively. CONCLUSIONS: Our study demonstrated CATSA was a more comprehensive and precise approach than the routine PCR in a large scale of samples, which is highly beneficial for carrier screening of thalassemia. It provided a broader molecular spectrum of hemoglobinopathies and a better basis for a control program in Dongguan region.
Subject(s)
Hemoglobinopathies , alpha-Thalassemia , beta-Thalassemia , Humans , beta-Thalassemia/diagnosis , Prevalence , Hemoglobinopathies/epidemiology , Hemoglobinopathies/genetics , alpha-Thalassemia/diagnosis , alpha-Thalassemia/epidemiology , alpha-Thalassemia/genetics , Hemoglobins , China/epidemiology , Mutation , GenotypeABSTRACT
Hemoglobinopathies, including ß-thalassemia and sickle cell disease (SCD), are common genetic blood disorders. Endocrine disorders are frequent manifestations of organ damage observed mainly in patients with ß-thalassemia and rarely in SCD. Iron overload, oxidative stress-induced cellular damage, chronic anemia, and HCV infection contribute to the development of endocrinopathies in ß-thalassemia. The above factors, combined with vaso-occlusive events and microcirculation defects, are crucial for endocrine dysfunction in SCD patients. These endocrinopathies include diabetes mellitus, hypothyroidism, parathyroid dysfunction, gonadal and growth failure, osteoporosis, and adrenal insufficiency, affecting the quality of life of these patients. Thus, we aim to provide current knowledge and data about the epidemiology, pathogenesis, diagnosis, and management of endocrine disorders in ß-thalassemia and SCD. We conducted a comprehensive review of the literature and examined the available data, mostly using the PubMed and Medline search engines for original articles. In the era of precision medicine, more studies investigating the potential role of genetic modifiers in the development of endocrinopathies in hemoglobinopathies are essential.
Subject(s)
Anemia, Sickle Cell , Diabetes Mellitus , Hemoglobinopathies , beta-Thalassemia , Humans , Iron , beta-Thalassemia/pathology , Quality of Life , Hemoglobinopathies/complications , Hemoglobinopathies/epidemiology , Hemoglobinopathies/geneticsABSTRACT
OBJECTIVES: Hemoglobinopathies are a global public health problem with high mortality and morbidity and very expensive treatment. Disease can be reduced and prevented with hemoglobinopathy screening tests. It is possible to identify carriers with the hemoglobinopathy screening program applied in many countries of the world and in Turkey. This study aims to evaluate the results of the national premarital hemoglobinopathy screening program carried out in primary healthcare institutions. METHODS: The research is of epidemiological and cross-sectional type. Electrophoresis results examined within the scope of the premarital hemoglobinopathy screening program in Samsun between 1 January 2019 and 31 December 2021 were evaluated retrospectively. Age, gender, year of screening, and hemoglobinopathy screening results were obtained from the records. In the statistical analysis of the data, p < 0.05 was accepted. RESULTS: The median age of 52,338 people screened under the hemoglobinopathy screening program was 29.0 (16.0-86.0) years. About 54.1% (n = 28,309) of those who were screened were female, and it was found that the least screening was done in 2020 (n = 15,765 (30.1%)). As a result of the screening, the frequency of the ß-thalassemia (ß-thal) trait was 1.37% (n = 676), the frequency of the abnormal HbS was 0.04% (n = 20). The frequency of ß-thal trait was statistically significantly higher in 2020 (1.5%) compared to other years (p = 0.029). When the results were analyzed by gender, the rate of women with abnormal HbS (3.7%) was significantly higher than the others (p = 0.017). CONCLUSIONS: This study presents the results of the national hemoglobinopathy screening program in Northern Turkey and the ß-thal and the abnormal HbS rates were found to be low. The data obtained will be useful in monitoring hemoglobinopathy disorders and evaluating the current program's effectiveness in the future. It will allow decision-makers to implement policy changes and prioritize new programs.
Subject(s)
Hemoglobinopathies , beta-Thalassemia , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Black Sea , Cross-Sectional Studies , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Hemoglobinopathies/prevention & control , Premarital Examinations , Prevalence , Retrospective Studies , Turkey/epidemiology , Adolescent , Young AdultABSTRACT
Hemoglobinopathies are the most common single-gene disorders in humans. There are 1,424 variants of human hemoglobin described with 951 involving the ß-globin gene. Ancestry and geography play a significant role in the incidence and nature of hemoglobinopathies, with African, Asian, and Mediterranean populations and their descendants being amongst the most affected. Investigation of variants in individuals of Hispanic descent is needed to reflect the changing demographics of the United States. Hemoglobin ß-globin evaluation through gel electrophoresis, high-performance liquid chromatography, and HBB gene sequencing was performed on patients from Texas hospitals between 2010 and 2015 and demographic parameters (age, sex, ethnicity) was subsequently analyzed. A total of 846 patients underwent hemoglobinopathy evaluation. A ß chain variant was detected in 628 of the 846 total patients. Hispanic patients represented 37% (314/846 patients), which were equally distributed between females (50%; 156/314) and males (50%; 156/314). A ß-globin chain variant was found in 67% of Hispanic patients with a distribution across 10 variants seen in greater than 1% of patients. For hemoglobin variants, an understanding of the regional and ethnic prevalence will improve patient care through more effective screening and identification of the variant, early diagnosis, and appropriate treatment if necessary, and better genetic counseling.
Subject(s)
Hemoglobinopathies , Hemoglobins, Abnormal , Male , Female , Humans , beta-Globins/genetics , Hemoglobins, Abnormal/genetics , Texas/epidemiology , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Hemoglobinopathies/genetics , Hispanic or Latino/geneticsABSTRACT
Hemoglobinopathies are highly prevalent in Saudi Arabia, with varying incidence rates across different regions. The Eastern and Jazan regions have the highest incidence rates. To prevent hemoglobinopathies, the premarital screening program (PMS) has been established in Saudi Arabia to identify at-risk couples before marriage. This cross-sectional descriptive study aimed to evaluate the awareness and attitude of young adults towards PMS in Jazan, Saudi Arabia, which involved 875 individuals (560 men and 315 women). The current study report significant association between sex, personal and family history of disease, and attitude towards PMS among young adults (P< 0.05). The study concludes that while there is a substantial level of awareness and positive attitude towards PMS among the population, there is a need for more detailed health campaigns led by healthcare providers, rulers, and Islamic leaders to highlight the importance of PMS as a preventative measure to reduce the incidence of hemoglobinopathies in Jazan, Saudi Arabia.
Les hémoglobinopathies sont très répandues en Arabie saoudite, avec des taux d'incidence variables selon les régions. Les régions de l'Est et de Jazan ont les taux d'incidence les plus élevés. Pour prévenir les hémoglobinopathies, le programme de dépistage prénuptial (PMS) a été mis en place en Arabie saoudite pour identifier les couples à risque avant le mariage. Cette étude descriptive transversale visait à évaluer la sensibilisation et l'attitude des jeunes adultes envers le SPM à Jazan, en Arabie Saoudite, qui a impliqué 875 individus (560 hommes et 315 femmes). La présente étude rapporte une association significative entre le sexe, les antécédents personnels et familiaux de maladie et l'attitude envers le SPM chez les jeunes adultes (P < 0,05). L'étude conclut que bien qu'il existe un niveau substantiel de sensibilisation et d'attitude positive envers le SPM parmi la population, il est nécessaire de mener des campagnes de santé plus détaillées menées par les prestataires de soins de santé, les dirigeants et les dirigeants islamiques pour souligner l'importance du SPM en tant que mesure préventive. réduire l'incidence des hémoglobinopathies en Jazan, Arabie saoudite.
Subject(s)
Hemoglobinopathies , Male , Young Adult , Humans , Female , Saudi Arabia/epidemiology , Cross-Sectional Studies , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Hemoglobinopathies/prevention & control , Health Personnel , Health PromotionABSTRACT
Background: Thalassemia and hemoglobinopathies are a group of inherited conditions characterized by abnormalities in the synthesis or structure of hemoglobin (Hb). According to estimates, approximately 7% of the world population is a carrier of Hb disorders, leading to high morbidity and mortality. To reduce the burden of these highly prevalent monogenic disorders, detecting them in the carrier stage is crucial to prevent disease progression. Aim: We aimed to estimate the prevalence and spectrum of hemoglobinopathies in females in the reproductive (20-40 years) age group. Settings and Design: It was a retrospective observational study carried out for 2.5 years (from January 2018 till June 2020). Materials and Methods: All the females in the age group of 20-40 years age whose blood samples were received in the department for High-Performance Liquid Chromatography (HPLC) were included. The cases with abnormal HPLC findings were analyzed for hematological parameters including hemoglobin, RBC count, and RBC indices [mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), & red cell distribution width - coefficient of variation (RDW-CV)]. Statistical Analysis: Statistical package for social science (SPSS) statistics 21 version for Microsoft Windows (Chicago, USA) was used for statistical analysis of data. The data were described in terms of range, mean ± standard deviation (SD), frequencies (number of cases), and relative frequencies (percentage) as appropriate. Results: During the study period, 72.2% of the females were affected with ß-thalassemia trait, followed by HbD Punjab trait (17.8%), HbQ India trait (2.9%), ß-thalassemia major (1.8%), and two cases (1.2%) each of HbS trait, HbD Iran trait, and compound heterozygous of HbD Punjab and ß-thalassaemia, whereas HbE trait, compound heterozygous of HbQ and ß-thalassemia, compound heterozygous of HbJ-variant and ß-thalassemia had one case each (0.6%). Conclusion: Preventive strategies are cost-effective and include population screening, premarital screening, screening of spouses, genetic counseling, and prenatal diagnosis. Educating the carrier females about the potential risk and various screening methods may help in controlling the disease.