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![Most common beta-thalassemia mutations in at-risk populations. Highlighted regions displaying the highest gene mutation frequencies of beta-thalassemia on a global scale. Mutations listed are those which are most common and represent 91-95% of affected individuals from these regions (or 75-80% of the population for individuals of African/African-American descent). Listed in brackets are the approximate upper ranges of beta-thalassemia carrier frequencies in each region [1-5].](profile/Robert-Hegele/publication/228620312/figure/fig1/AS:340328650428416@1458152081148/Fig-1-Most-common-beta-thalassemia-mutations-in-at-risk-populations-Highlighted.png)
Most common beta-thalassemia mutations in at-risk populations. Highlighted regions displaying the highest gene mutation frequencies of beta-thalassemia on a global scale. Mutations listed are those which are most common and represent 91-95% of affected individuals from these regions (or 75-80% of the population for individuals of African/African-American descent). Listed in brackets are the approximate upper ranges of beta-thalassemia carrier frequencies in each region [1-5].
Source publication
Beta-thalassemia is one of the most prevalent autosomal disorders in the world. Mutations in the HBB gene un-derlie deficiencies in hemoglobin production, which can interfere with oxygen delivery resulting in wide range of disease severity. Although >535 mutations have been characterized in the HBB gene, beta-thalassemia is broadly classified into...
Citations
... Thalassemia can be classified into three different clinical categories based on its severity: major, which requires lifelong blood transfusions; intermedia, which causes non-fatal anemia on its own; and mild thalassemia, also known as thalassemia trait, which typically presents with no observable symptoms [6][7][8] . The type of gene mutation responsible for thalassemia is linked to its phenotype. ...
... Beta thalassemia intermedia is a moderately severe form of the condition, and some individuals with this form may require blood transfusions and other medical treatment [9] . Beta thalassemia minor (also known as trait) results in mild anemia, and most individuals with this form do not require any medical intervention [6] . Beta thalassemia is characterized by a deficient or absent β-globin chain [10] . ...
The objective of this research was to determine the change in hepcidin levels and other biochemical markers, including total iron binding capacity (TIBC), serum iron, testosterone, and specific vitamins in the blood of individuals with β-Thalassemia. Here, 140 participants were involved in the study, of whom 110 were affected by β-thalassemia and 30 were healthy. The samples were obtained from Baqubah Teaching Hospital, the blood bank and blood donation center. The study was carried out from May 2022 to August 2022, and the patients were housed in Diyala Provence, Baquba City and its suburbs. The participants in this investigation were split into three groups: A: 55 male patients with β-thalassemia; B: 55 female patients with β-thalassemia; and C: 30 healthy individuals that were set as a control group. The findings of the study showed that the levels of HbA1 in males and females were 93.44 ± 0.71 and 93.53 ± 0.91, respectively, while the levels of HbA2 in males and females were 4.99 ± 0.59 and 5.29 ± 0.72, respectively. In contrast, the control group had HbA1 levels of 97.33 ± 0.40 in males and 97.66 ± 0.46 in females, but HbA2 levels were 2.32 ± 0.33 in males and 2.24 ± 0.24 in females. The study revealed remarkable differences (P < 0.05) between these variables. Hematological measures, such as hemoglobin concentration and percentages of mean corpuscular volume (MCV), packed cell volume (PCV), and mean corpuscular hemoglobin (MCH) were substantially reduced (P < 0.05) in β-thalassemia patients when compared to the controls. Serum iron and TIBC were significantly increased (P < 0.05), while Hepcidin levels were markedly decreased (P < 0.05) in the serum of β-thalassemia patients compared to controls. Therefore, as a conclusion the reduction of hepcidin levels and increase in iron levels are correlated with β-thalassemia and can be used as a biomarkers in monitoring β-thalassemia disease.
... β-thalassemia, one of the most widespread genetic disease in the world, is an autosomal hematological disorder that is the result of genetically absent or deficient synthesis of the beta-globin chains of hemoglobin (1,2) . β-thalassemia affects many population groups all over the world with about 5% carrier rate (3) . ...
β-thalassemia is an inherited blood disorder in hemoglobin synthesis that results in anemia, growth retardation and certain pathological changes. The treatment of choice for β-thalassemia is the repeated blood transfusion, but unfortunately it results in an iron overload with additional risk factors. The present study aims to evaluate iron profile in transfusion dependent β-thalassemia patients and the effects of repeated blood transfusion on serum ferritin level and the possibility of using the total number of blood transfusion to predict serum ferritin level. 40 transfusion dependent β-thalassemia patients were included in the present study all dependent on blood transfusion only with age range 1-4 years old. A control group of 20 apparently healthy children with age range 1-4 years old was used for comparison. Blood sample of 5 ml was collected from each individual and tested for serum levels of iron, TIBC, % saturation, and serum ferritin. The present study revealed significant changes in the levels of iron profile parameters between patients and control subjects manifested by significantly elevated serum iron and ferritin levels with significantly decreased serum TIBC. Iron status and iron overload in transfusion dependent β-thalassemia patients revealed a significant correlation between serum ferritin level and the number of transfused RBCs units. However this correlation is a rough correlation and some times unpredictable and it could not be used to assess the level of serum ferritin as used by some physicians.
... [1][2][3] Individuals belonging to the South-East Asian, Middle East, and Mediterranean region were affected mainly with thalassemia. 4,5 As per the World Health Organization (WHO) statement, among all hemoglobinopathies, beta-thalassemia is the most fatal worldwide and requires strict attention. 6 In different regions of the world, the prevalence of thalassemia has been discovered to be varied. ...
Beta-thalassemia is one of the most frequently occurring hematological disorders in [Removed for blinded peer-review]. Regular blood transfusion is required in almost all cases for management. However, this is associated with significant major complications like red blood cell (RBC) alloimmunization. This retrospective cross-sectional is conducted to evaluate the RBC alloimmunization frequency in children with beta-thalassemia aged between 6 months and 16 years in [Removed for blinded peer-review]. Antibody screening was performed using the Dia clon3 cell antigen panel. If the screening came back positive, a detailed panel was created for the identification of specific antibody. In our sample, the frequency of RBC alloimmunization was found in 22 (26.19%) patients. Of these 22 patients, the Rhesus system was found in most patients 17 (77.3%), followed by Kell 5 (22.7%). RBC alloimmunization was significantly associated with a family history of a blood disorder and splenectomy.
... The genetic abnormality in thalassemia, which can be either a mutation or a deletion, causes a decrease in one of the globin chains that makes up hemoglobin synthesizes at a fast rate. This might result in the development of aberrant hemglobin molecules, resulting in anemia., the thalassemia's classic giving sign [2,3]. The thalassemia are caused by a high mutations numbers that cause aberrant globin genes appearance, resulting in globin chain synthesis being completely absent or significantly reduced.. Alphathalassemia it is described by the reduction or lack of the α-globin chain resulting from the removal or alteration of α-globin-genes. ...
Objectives: To evaluate the relationship between trace elements and thalassemia. Methodology: This is a case control study involving fifteen-samples of patients suffering from Beta Thalassemia. The patient's samples were collected from Al-Sadder Hospital center / Najaf-Ashraf among October /2021 to December/2021. This study also involved fifteen volunteers served as control group. Both patients and the control group are informed about the study. Results: In comparison to controls, men and females had a highly significant drop (P0.001) in HHCT) and HGBThe iron and ferritin were increased significantly, while trace elements (zinc and copper) were decreased. Conclusion: Patients with thalassemia are at a Due to deposited iron in the organs, there is a higher risk of iron overloading and tissue damage. The results demonstrate a highly significant rise in ferritin in the major and intermedia, but no differences in the minor when compared to the controls.
... Additionally, regular blood transfusions cause iron overload, leading to progressive cardiac damage and death. The annual cost of blood transfusions for β-thalassemia major patients in the Middle East has been estimated at USD 3,200 per patient (2015) (11)(12)(13)(14)(15). ...
... The prevalence of β-thalassemia in the Middle East is high, where 1-15% of the population carries the trait (12,15). A major contributor to the high β-thalassemia prevalence in the Middle East is the high prevalence (25-60%) of consanguineous marriages, particularly among first cousins (16,17). ...
Thalassemia are inherited hematological disorders considered among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean Region. The WHO estimates that Beta-thalassemia affects 2.9% of the world’s population. In Jordan, the carrier prevalence rate of thalassemia is from 2-4%. Patients with thalassemia need a lifelong care, devastating their quality of life and imposing overwhelming psychological and financial burden on patients and their families. The Jordanian Ministry of Health (MOH) is the sole facility responsible for treating these patients from the pre-marital program until required medications regardless of their nationality. This study aimed to estimate the economic burden of thalassemia in Jordan in 2019. All 680 thalassemia patients admitted to thalassemia centers in Jordan and coming to out-patients’ clinics from July 1st to Aug 31st, 2019 are included. Data were collected using a pre-developed questionnaire from the electronic medical records. The economic burden was estimated from MOH perspective and societal perspective. The average annual cost was estimated to be 2,674 JOD for a single thalassemia Jordanian insured patient and 4,627 JOD for un-insured, while the non-Jordanian patient’ annual cost was estimated 4,751 JOD if insured and 6,651 JOD if un-insured. The total economic burden of thalassemia in Jordan in 2019 was estimated to be 2,148,741 JOD. Of this amount, 1,393,329 JOD was for Jordanians and 755,412 JOD for non-Jordanians. In conclusion, this high burden of thalassemia in Jordan requires adopting new controlling policies; pre-marriage counseling, education and raising awareness should be encouraged.
... The HEPC title role, as the principal iron-regulating molecule, is undeniable and is the subject of concern and the vantage point for researchers working on iron homeostasis and disorders all over the world. Because b-thalassemia (b-thal) is one of the rapidly growing inherited disorders in our region, especially Duhok City [15], and iron overload is the major secondary complication of this illness while causing the most morbidity and mortality [16], we decided to assess the concentrations of the HEPC-to-FER ratio and its components in comparison to the healthy controls to Table 1. Case-control difference of serum hepcidin, serum ferritin, iron study, and hepcidin-to-ferritin ratio. ...
Hepcidin (HEPC) hormone production is expected to be elevated in cases accompanying iron overload, but the opposite impact of ineffective erythropoiesis in b-thalassemia major (b-TM) patients overrides this effect. The role of the HEPC-to-ferritin (FER) ratio and its components in iron metabolism along with their diagnostic cutoff values, sensitivity, specificity, and accuracy in b-TM patients with iron overload, were examined in this study. This was a 1:1 case-control study with 120 participants, ages ranging from 2 to 30 years of both sexes, who were assigned into two groups: 60 b-TM patients with iron overload, and a control group, comprising 60 healthy individuals matched by gender and age. In the present study, we found slightly elevated serum HEPC concentration (21.9 ng/mL) compared to the
controls (9.9 ng/mL), which was not statistically significant (p ¼0.1), and the median HEPC-to-FER ratio of the cases was significantly lower than the controls, with the median case-control difference of
(–0.366; p < 0.001). Our results revealed a statistically significant impact (p < 0.001) of mean age on the serum HEPC level with the inverse linear correlation of (–0.487, p < 0.001). The area under the curve of the HEPC-to-FER ratio was 0.999 and the optimum cutoff value was 0.046 ng/mL (p < 0.001) with 100.0% sensitivity and 98.3% specificity. In conclusion, we found that serum HEPC-to-FER ratio, with an accuracy of 99.2%, may serve as an excellent index for the diagnosis of iron overload in b-TM patients differentiating them from nonthalassemic controls.
... In some patients, death would result without chronic blood transfusions. Laboratory abnormalities include microcytic anemia with abnormally shaped RBCs and abnormal Hb electrophoresis (17) . A Preptin hormone serum level was decreased significantly high in patients group than control group. ...
Background Beta thalassemia syndromes are a set of hereditary blood disorders marked by a deficiency of beta-globin chain synthesis, result in decrease hemoglobin in red blood cells, anemia, and a reduced RBC production. Iron overload is a common finding in chronically transfused beta thalassemia major patients with possible effect on beta cell function and secretion. This study aimed to assess preptin level in the serum in beta major thalassemic patients, in order to indicate the effect of oxidative stress on preptin secretion. And explain preptin effect on bone cells. Subject and methods; A case-control study that was performed in the Ibn Albaladi Hospital (during the period from 1st of September 2020 to the end of January 2021. It included 48 beta major thalassemic patients and 36 subject as healthy control. Information was taken from each subject including age, diseases. Subjects with any cardiovascular diseases, hyperemesis gravidram, liver diseases, kidney diseases, bone disease, diabetes mellitus, and patients take corticosteroid as well as patients in childhood were excluded in this study. The biomarkers studied were: fasting serum preptin, insulin were assessed. Serum preptin and insulin were measured by ELISA technique. Results; The mean values of (Preptin, Insulin) in patients group were less than control group. There was a moderate direct significant correlation P<0.01 between preptin and insulin. Conclusion; The mean value of serum preptin was less in thalassemic major group than control group. And direct correlated with insulin level which is also reduced in thalassemic patients.
... It was comparable to other regions of the country and the prevalence of sickle cell disease hemoglobin was obviously low 0.56%, which is not representing the true figure of sickle cell carriers in Karbala governorate [14] because there is no definitive cure for these hereditary diseases. Apart from bone marrow transplantation, which is expensive and risky; moreover, it is difficult to identify a suitable donor, and the required infrastructure is unavailable in most Middle Eastern countries, in addition the cost of blood transfusions for βthalassemia major patients in the Middle East has been estimated approximately USD 3,200 [15], add the cost of chelating therapy which is again costly, for that the World Health Organization (WHO) has suggested a control program comprising culturing of the public, screening for carriers, prenatal diagnosis and genetic counselling, which would result in the prevention of the births of an affected children. ...
Background: Thalassemia and sickle cell disease are common autosomal recessive disorders and are the most widespread single gene disorder that considered important public health problems. Premarital screening is important step in prevention of hemoglobinopathies. Aim: to evaluate the outcome of 2 years of the premarital screening program in Karbala and options to improve that program. Methods: A descriptive cross-sectional study by assessment of 2 years of premarital screening in Karbala Blood Disease Center started from January 2019 till December 2020. Total number of individuals screened for hemoglobinopathies in that period was 1306 (653 couples) referred from five marital clinics, Complete blood count was done for all screened couples. Results: The bulk number of tested individuals was in 2019 because of the corona pandemic, nearly half of those couples were relatives, the majority was referred from Al-Husseini hospital, about 5% of these marriages were contraindicated to be accomplished and 3 % were cautious. β-Thalassemia minor was the main type of abnormal hemoglobinopathies discovered. Conclusion: Some risky marriages were prevented by doing the premarital screening but still we need other concerted efforts to improve the outcome of the program.
... Patients with thalassemia suffer from varying degrees of anemia, that is, a shortage of red blood cells. (2,3) Classification of thalassemia: The two main types are called Alpha and Beta thalassemia, depending on which part of globin chain is produced in reduced amounts. Normally, alpha globin chain is made by four genes (two from each parent), two on each strand of chromosome 16. ...
This research including the study of some hematological and biochemical changes in children suffering thalassemia in the province of Karbala. To achieve this aim 50 samples was arranged in two groups first group include 40 patient with thalassemia male and female attending Imam Hussein medical city and second group include 10 healthy children as control. The results appear decrease in concentration of packed cell volume (PCV), Red Blood cell count and Hb. Also the results appear decrease in biochemical parameters represented by (GOT) and (GPT). While there is increase in WBC count in patients as compared with control. The result also shown that thalassemia mostly occurs in male than in female.
... β-thalassemia is prevalent in 60 countries; the high prevalence of β-thalassemia has been reported from the countries where consanguineous marriages are common (Vichinsky et al. 2005). The majority of these countries are in the Middle East and North Africa and South Asia particularly India and Pakistan (Zahed et al. 2001;Lahiry, Al-Attar et al. 2008;Haj et al. 2010;Qurat-ul-Ain, et al. 2011). ...
