Prevalence of Thalassemia Traits and Iron Deficiency Anemia in Sindh,Pakistan

Among microcytic hypochromic anemias, the most common disorders are iron deficiency anemia and co-pathological conditions such as α- or β-thalassemia (α- or β-thal) traits. The aim of the present study was to determine the frequency and prevalence of iron deficiency anemia and α- or β-thal traits based on clinical laboratory data across different ethnic groups in five districts of Sindh Province, Pakistan. The present retrospective study analyzed 3 years (2012–2015) of encoded and unlinked clinical laboratory data, and identified 3030 microcytic hypochromic anemia cases. The data contained complete blood counts (CBCs) with smear morphology examinations, serum ferritin levels, and hemoglobin (Hb) electrophoreses. After reviewing the data, 994 confirmed subjects (iron deficiency anemia and α- and β-thal traits) were then selected for the present study. The prevalence of α- and β-thal traits was highest in Badin district (35.27%), while the prevalence of iron deficiency anemia was highest in Larkana district (30.73%). According to the ethnic-wise distribution, higher numbers of α- and β-thal trait cases were seen in the Sindhi ethnic group [375 (64.21%) and 283 (69.02%), respectively] than in the other ethnic groups. In addition, a higher distribution of β-thal trait cases was observed in the Sindhi ethnic group [n?=?327 (56%)] in α- and β-thal cases overall. Findings from the present study strongly suggested that screening is important not only for β-thal trait but also other traits as well. However, careful monitoring of CBC parameters, including red blood cell (RBC) indices and morphology, along with clinical findings are essential to diagnose carrier cases, especially in high prevalence areas.     

Evaluation of Applying a Combination of Red Cell Indexes and Formulas to Differentiate β-Thalassemia Trait from Iron Deficiency Anemia in the Thai Population

Red cell indexes and formulas have been established as simple, fast, and inexpensive tools to differentiate β-thalassemia (β-thal) trait from iron deficiency anemia. However, none of them showed 100.0% sensitivity and specificity. Moreover, one index may show greater sensitivity and specificity in one population but is ineffective in another population. This study evaluated the diagnostic reliability of a combination of two red cell indexes [red blood cell (RBC) and red blood cell distribution width (RDW)] and nine formulas called ‘11T score’ for differentiation of β-thal trait and iron deficiency anemia in the Thai population. A total of 103 cases, 67 β-thal trait and 36 iron deficiency anemia, Thai subjects with microcytic hypochromic anemia [mean corpuscular volume (MCV) <80.0?fL and mean corpuscular hemoglobin (Hb) (MCH) <27.0?pg] were involved in this retrospective study. The results showed that the 11T score with a cutoff value of 7 was able to discriminate between β-thal trait and iron deficiency anemia with sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and efficiency (EFF) higher than 70.0%. It also had 85.4% of correctly identified cases and the highest value of Youden’s Index (YI) (73.8%) when compared to the 11T score with other cutoff values (5, 6, 8 and 9) and other indexes. Thus, the 11T score with the cutoff value of 7 could be used to differentiate β-thal trait from iron deficiency anemia in the Thai population.     

Effectiveness of Prenatal Screening for Hemoglobinopathies in a Developing Country

Abstract

The thalassemias are among the most common monogenic diseases worldwide, a national health burden in India. There are estimated 7500–12,000 babies born with β-thalassemia major (β-TM) every year in this country. Couples who are at-risk of having children with hemoglobin (Hb) disorders desired to have the option of avoiding the birth of an affected child by prenatal diagnosis (PND). Thus, the prenatal women are a highly important target group for carrier screening and preventing the birth of thalassemic children in the country. The present study was conducted among 20,883 pregnant women, irrespective of gravida and duration of pregnancy, from the prenatal clinic of Nilratan Sarkar (NRS) Medical College & Hospital, Kolkata, West Bengal, India, from February 2009 to November 2012. Thalassemia carrier status was assessed by high performance liquid chromatography (HPLC) along with red blood cell (RBC) indices. Husbands of all thalassemia carrier women were advised and persuaded to undergo screening for hemoglobinopathies. The couples were counseled to undergo PND if both of them were detected to be thalassemia carriers. The data were statistically analyzed to evaluate the efficacy of this procedure.     

A Local Equation for Differential Diagnosis of β-Thalassemia Trait and Iron Deficiency Anemia by Logistic Regression Analysis in Southeast Iran

The most common differential diagnosis of β-thalassemia (β-thal) trait is iron deficiency anemia. Several red blood cell equations were introduced during different studies for differential diagnosis between β-thal trait and iron deficiency anemia. Due to genetic variations in different regions, these equations cannot be useful in all population. The aim of this study was to determine a native equation with high accuracy for differential diagnosis of β-thal trait and iron deficiency anemia for the Sistan and Baluchestan population by logistic regression analysis. We selected 77 iron deficiency anemia and 100 β-thal trait cases. We used binary logistic regression analysis and determined best equations for probability prediction of β-thal trait against iron deficiency anemia in our population. We compared diagnostic values and receiver operative characteristic (ROC) curve related to this equation and another 10 published equations in discriminating β-thal trait and iron deficiency anemia. The binary logistic regression analysis determined the best equation for best probability prediction of β-thal trait against iron deficiency anemia with area under curve (AUC) 0.998. Based on ROC curves and AUC, Green & King, England & Frazer, and then Sirdah indices, respectively, had the most accuracy after our equation. We suggest that to get the best equation and cut-off in each region, one needs to evaluate specific information of each region, specifically in areas where populations are homogeneous, to provide a specific formula for differentiating between β-thal trait and iron deficiency anemia.     

Molecular Epidemiology of Hemoglobinopathies in Cambodia

Determining the magnitude of the thalassemia problem in a country is important for implementing a national prevention and control program. In order to acquire accurate thalassemia prevalence data, the gene frequency of α- and β-thalassemia (α- and β-thal) in different regions of a country should be determined. The molecular basis of thalassemia in Cambodia was performed by polymerase chain reaction (PCR)-based techniques in a community-based cross-sectional survey of 1631 unrelated individuals from three regions, Battambang, Preah Vihear and Phnom Penh. Thalassemia mutations were detected in 62.7% of the three studied population of Cambodia. Hb E (HBB: c.79G?>?A) was the most common β-globin gene mutation with a frequency ranging from 0.139 to 0.331, while the most frequent α-globin gene mutation was the –α^3.7 (rightward) deletion (0.098–0.255). The other frequencies were 0.001–0.003 for β-thal, 0.008–0.011 for α-thal-1 (– –^SEA), 0.003-0.008 for α-thal-2 [–α^4.2 (leftward deletion)], 0.021–0.044 for Hb Constant Spring (Hb CS, HBA2: c.427T?>?C) and 0.009–0.036 for Hb Paksé (HBA2: c.429A?>?T). A regional specific thalassemia gene frequency was observed. Preah Vihear had the highest prevalence of Hb E (55.9%), α-thal-2 (24.0%) and nondeletional α-thal (15.1%), whereas Phnom Penh had the lowest frequency of thalassemia genes. Interestingly, in Preah Vihear, the frequency of Hb Paksé was extremely high (0.036), almost equivalent to that of Hb CS (0.044). Our results indicate the importance of micromapping and epidemiology studies of thalassemia, which will assist in establishing the national prevention and control program in Cambodia.     

Population Screening and Prevention Strategies for Thalassemias and other Hemoglobinopathies of Eastern India: Experience of 18,166 cases

Abstract

We evaluated population screening programs (1999–2011), conducted by the Thalassaemia Foundation, Kolkata, India, for the first time in Eastern India in different districts of West Bengal, for prevention of thalassemia comprising screening of heterozygotes and β-thalassemia intermedia (β-TI) cases [β⁺, β⁺⁺, β⁰/β⁺, β^E/β^E (codon 26 or HBB: c.79G?>?A), Hb-E-β-thalassemia (Hb E-β-thal)]. Among 18,166 cases, we found 2092 heterozygotes and 2245 β-TI individuals (who had no information about their disorders). Results were evaluated with standard hematological analyses including erythrocyte indices, hemoglobin (Hb) typing and quantification. Participants were divided into five groups (children, pre-marriage cases, pre-pregnancy cases, affected family members, pregnant women). The objectives of this evaluation were to fix cut-off values of red blood cells (RBCs), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), red blood cell distribution width (RDW) and Hb A₂, as the standard World Health Organization (WHO) guidelines were not strictly followed in mass-scale screening programs. We have observed many dilemmas in considering the status of the thalassemia subject, due to presence of some other clinical conditions such as iron deficiency anemia, α-thalassemia (α-thal), δ-thalassemia (δ-thal), clinically silent Hb variants, and some cases of non hemoglobinopathies (such as pregnancy) along with thalassemia. The MCV values varied greatly in different conditions of hemoglobinopathies, whereas MCH provided a more stable measurement. We found an MCH value of <27.0?pg is a suitable cut-off point for screening in this population. Participants with an MCH of <27.0?pg should be investigated further to confirm or exclude a diagnosis of β-thal trait.     

Prevalence and Predictive Signs for Gastrointestinal Lesions in Premenopausal Women with Iron Deficiency Anemia

Introduction The reported rates of gastrointestinal (GI) lesions among pre-menopausal women with iron deficiency anemia (IDA) vary considerably. Aim To assess the prevalence of significant gastrointestinal lesions among symptomatic and asymptomatic pre-menopausal women with IDA, and to shed light on potential predictors of their presence. Methods Clinical, endoscopic, and histological data was collected from 116 pre-menopausal women with IDA. All women underwent upper and lower gastrointestinal tract endoscopies, duodenal biopsies, and small bowel evaluation with small bowel series or computed tomography. Results The mean age was 33 years (range: 18–45). Clinically, significant lesions were demonstrated in 30%, the majority in the upper gastrointestinal tract. Helicobacter pylori gastritis was the most common finding (16%). Celiac disease was detected in 6%. No malignant lesions were detected. The prevalence of lesions was highest among women with symptoms of heartburn and regurgitation. The presence of upper gastrointestinal symptoms (OR: 3.67, 95%CI: 2.14–5.03; P = 0.002), MCV lower than 70 pg (OR: 1.88, 95%CI: 1.27–3.91; P = 0.04), and hemoglobin levels less than 10 g/dl (OR: 1.71, 95%CI: 1.19–4.07; P = 0.05) were associated with an increased likelihood of significant gastrointestinal lesions; history of heavy menstrual blood loss was associated with negative findings (OR: 0.46, 95%CI: 0.27–0.69; P = 0.002). Conclusions Upper GI findings, mainly HP gastritis and celiac disease, were the most common pathologic findings. Initial evaluation of IDA in premenopausal women may include urea breath test and celiac serology. Further endoscopic evaluation can be reserved for those women who are found to be negative in the initial evaluation, as well as in cases of failure of IDA remission after successful HP eradication.     

The Prevalence and Molecular Basis of Hemoglobinopathies in Cambodia

Blood counts, hemoglobin (Hb) high performance liquid chromatography (HPLC), and DNA analyses were performed on 260 children, aged 5 months to 16 years, at Siem Reap to assess the prevalence of thalassemia and other hemoglobinopathies in regional Cambodia. Hemoglobinopathies were present in 134 children (51.5%) with 20 abnormal genotypes identified. α-Thalassemia (thal) (35.4%) was the most prevalent disorder and the –α^3.7 gene deletion was the most common α-globin gene abnormality. The ? ?^SEA deletion and nondeletional forms of α-thal, Hb Constant Spring [Hb CS, α142, Term→Gln, TAA→CAA (α2)], Hb Paksé [α142, Term→Tyr, TAA→TAT (α2)] and triplicated α genes, were also present but at low frequencies. Hb E [β26(B8)Glu→Lys, GAG→AAG] (28.8%) was the most common β-globin gene abnormality, whilst β-thal was only detected in two children (0.8% of cases). Although hemoglobinopathies were common, the majority of abnormalities detected (heterozygous ?α^3.7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia.     

Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family

While knowledge of HBB gene mutations is necessary for offering prenatal diagnosis (PND) of β-thalassemia (β-thal), a genotype-phenotype correlation may not always be available for rare variants. We present for the first time, genotype-phenotype correlation for a compound heterozygous status with IVS-I-5 (G>C) (HBB: c.92+5G>C) and HBB: c.407C>T (Hb Alperton) mutations on the HBB gene in an Indian family. Hb Alperton is a very rare hemoglobin (Hb) variant with scant published information about its clinical presentation, especially when accompanied with another HBB gene mutation. Here we provide biochemical as well as clinical details of this variant.     

Predictors of Red Cell Alloimmunization in Kurdish Multi Transfused Patients with Hemoglobinopathies in Iraq

Abstract

Hemoglobinopathies are significant health problems in Iraq, including its Northern Kurdistan region. One of the essential components of management of these disorders is regular lifelong blood transfusions. The latter is associated with several complications including red cell alloimmunization. No study has looked at the frequency of alloimmunization and its associations in the country. To address the latter issue, 401 multi transfused patients [311 with β-thalassemia (β-thal) syndrome and 90 with sickle cell disease], registered at a large thalassemia care center in Iraqi Kurdistan had their records reviewed, and their sera tested for atypical antibodies using screening and extended red cell panels. Red cell alloimmunization was detected in 18 patients (4.5%) with a total of 20 alloantibodies, while no autoantibodies were detected. The most frequent alloantibody was anti-E, followed by anti-D, anti-K, anti-C^w, anti-C, anti-c and anti-Le^a. Ethnicity was an important predictor of alloimmunization, while age at start of transfusion (>2 vs. ≤2 years) (p?=?0.005), Rhesus D (RhD) negative status (p?=?0.0017) and history of previous transfusion reactions (p?=?0.007) showed a statistically significant higher rate of alloimmunization. However, patients’ age, gender, number of units transfused, underlying diagnosis and splenectomy were not significantly associated with alloimmunization. Based on our observations, measures to reduce alloimmunization rates may include extended matching for Rhesus and Kell antigens and early initiation of blood transfusions.     

Iron Metabolism and Oxidative Status in Patients with Hb H Disease

To evaluate the iron metabolism and oxidative status in patients with Hb H disease, we investigated 43 patients with Hb H disease, including eight deletional Hb H disease patients and 35 nondeletional Hb H disease patients and 20 healthy controls. The levels of hematological parameters, serum ferritin, hepcidin, superoxide dismutase (SOD), malondialdehyde (MDA) and total antioxidant capacity (TAC), were examined. We found higher serum ferritin levels and lower hepcidin, MDA and TAC levels in Hb H disease patients than in controls. The hepcidin level in Hb H disease patients was positively correlated with MDA and TAC levels but not with serum ferritin and SOD levels. The patients with nondeletional Hb H disease showed higher serum ferritin and Hb H concentrations than those patients with deletional Hb H disease. However, no statistically significant differences in SOD, MDA and TAC levels were found in patients with deletional and nondeletional Hb H disease. Oxidative stress and antioxidant defense were related to hepcidin levels. Our study indicated that hepcidin might be an important parameter for monitoring the iron metabolism and oxidative status of Hb H disease patients.     

Coexistence of Megaloblastic Anemia and Iron Deficiency Anemia in a Young Woman with Chronic Lymphocytic Thyroiditis

Pernicious anemia is a megaloblastic anemia caused by vitamin B12 deficiency, and is the end-stage of autoimmune gastritis that typically affects persons older than 60 years. It is the most common cause of vitamin B12 deficiency. Pernicious anemia can also be diagnosed concurrently with other autoimmune diseases. We report the occurrence of megaloblastic anemia in a 22-year-old woman with chronic autoimmune thyroiditis for 10.5 years. Recently, she presented with microcytic anemia, and iron deficiency anemia was diagnosed initially. After administration of ferrous sulfate, macrocytic anemia was revealed and vitamin B12 deficiency was detected. Pernicious anemia was highly suspected because of the endoscopic finding of atrophic gastritis, and high titer of antigastric parietal cell antibody, as well as elevated serum gastrin level. After intramuscular injections of hydroxycobalamine 100 microg daily for 10 days, and monthly later, her blood counts returned to normal.     

The Diagnostic Utility of Flow Cytometry in Celiac Disease Presented Isolated Iron Deficiency Anemia

Background: Flow cytometric analysis of intestinal intraepithelial lymphocytes contributes to the diagnosis of celiac disease. Celiac disease may present with iron deficiency anemia alone which is considered as one of the forms of atypical celiac disease. In this study, we have aimed to investigate the diagnostic utility of flow cytometric analysis of intraepithelial lymphocytes in this atypical form.Methods: Three groups were formed: the patients with unexplained iron deficiency (group 1), the patients with celiac disease (group 2), and the patients who underwent gastroduodenoscopy for other reasons (group 0). Duodenal biopsy samples were used for flow cytometric analysis of intraepithelial lymphocytes. T cell receptor gammadelta intraepithelial lymphocytes and CD3−/CD103+ intraepithelial lymphocytes were determined with relevant monoclonal antibodies. Sensitivity–specificity calculation was performed to evaluate the usability of flow cytometric variables as diagnostic tests.Results: Group 1 had 22 patients, group 2 had 14 patients, and group 0 had 56 patients. In the comparison of the 3 groups, CD3+/TCRγδ+ intraepithelial lymphocytes were found to be higher in celiac patients than other cases. CD3+/TCRγδ+ intraepithelial lymphocyte was evaluated for its usability as a diagnostic test. The cut-off value of CD3+/TCRγδ+ intraepithelial lymphocyte as 16.39% according to receiver operating characteristics curve analysis determined celiac disease in 14 of 22 patients in group 1 with 91.7% sensitivity and 80.4% specificity.Conclusions: Although celiac disease is diagnosed with serologic tests and histologic examination, successively, the increase in intestinal CD3+/TCRγδ+ intraepithelial lymphocytes may be used as a diagnostic test, and it may assist in revealing atypical forms of celiac disease.     

A Number of Cases in Iran Presenting with Coinheritance of Hemoglobin-H Disease and Beta-Thalassemia Minor

Thalassemias are a group of inherited hematological disorders caused by defects in the synthesis of one or more of the hemoglobin (Hb) chains. The β- and α-thalassemias are widespread throughout the Mediterranean region, the Middle East, and Southeast Asia including Iran. In this study, we report five patients known to carry a coinheritance of Hb H (β4) disease and β-thalassemia (β-thal) minor. There is a high prevalence of consanguineous marriages in our population and the high rate of thalassemia determinants can cause coinheritance of α- and β-thal. Therefore, it is of special interest to report coinheritance of Hb H disease and β-thal minor which could lead to misdiagnosis.     

Mutational Spectrum of Thalassemias and other Hemoglobinopathies in West Bengal,Eastern India

Thalassemia, an autosomal recessive blood disease, shows a variety of clinical expression in terms of asymptomatic to severe blood transfusion dependence. More than 500 alleles have been characterized in or around the β-globin region. Most of the geographical regions have their own characteristic alleles that predominantly circulate within the communities present in that particular region. In this article, we try to throw some light to explore the spectrum of β-thalassemia (β-thal) alleles present in West Bengal, the eastern part of India. This study comprises thalassemia carriers and diseased persons from different districts of West Bengal. We not only explored the complete mutational spectrum of this state but we also tried to fix the critical range of the values of different hematological parameters [Hb A₂, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH)] for the heterozygotes or carriers of β-thal with the same mutational background. At the same time, we also tried to evaluate the maximum weighted frequency of these parameters for the heterozygotes or carriers of β-thal with the same mutational background, so that by observing these cut-off values of standard hematological parameters, we were able to predict the carrier or diseased status for mass scale screening and also try to correlate the values of these parameters with different combinations of β-thal mutation-specific alleles that can be more informative in mass scale (carrier) screening.     

Knowledge and Attitudes Toward Mandatory Premarital Screening Among University Students in North Jordan

A mandatory National Premarital Thalassemia Screening Program was implemented in Jordan in 2004. This cross-sectional study aimed to assess the knowledge and attitudes of university students in North Jordan toward this program. Data was collected from 542 students from four universities (two public and two private universities) located in North Jordan, using a structured questionnaire. Results of t-test and analysis of variance (ANOVA) showed that while respondents had adequate knowledge of and positive attitudes toward the premarital screening program, there was still a lack of knowledge about the disease itself. Nearly half the respondents were under the impression that β-thalassemia (β-thal) is a disease that can be treated simply. One-third of the respondents believed that if both partners were carriers of β-thal they should proceed with marriage. Negative attitude was revealed when many respondents believed that diagnosing a family member as a carrier affects other family members’ future marriage opportunities. Significant associations were detected between the knowledge scores and gender, urban/rural residence, and the university where the students were enrolled. Students in private universities showed significantly lower attitude scores. Consideration of prenatal diagnostic services as part of a β-thal prevention program is necessary. It would also be helpful to include information about β-thal as a preventable inherited illness with a severe debilitating impact on the family in the high school curriculum. There is also a need for social marketing of the program.     

Comparison of a Combination Ferrous Fumarate Product and a Polysaccharide Iron complex as Oral Treatments of Iron Deficiency Anemia: A Taiwanese Study

Despite efforts to improve iron supplements for iron deficiency anemia, there is no consensus on products that balance efficacy, safety and tolerability, and cost. Ferrous products are effective, but they are associated with more gastrointestinal side effects than ferric products. Ferric products tend to have lower absorption. We present results from a 12-week study that randomized 72 people with uncomplicated iron deficiency anemia to receive a ferrous iron supplement (Ferall, a combination of ferrous fumarate with ascorbic acid, folic acid, and cyanocobalamin) or a ferric iron polysaccharide complex (Niferex, ferro-glycine sulfate) plus ascorbic acid. The ferrous product was significantly more effective, the primary and secondary endpoints including changes in levels of hemoglobin and serum ferritin. There was a slightly higher frequency of gastrointestinal side effects in patients taking the ferrous product, but both supplements were well tolerated. No participant withdrew from the study because of side effects. We concluded that the ferrous product is safe and effective for use in uncomplicated iron deficiency anemia. The lack of direct comparison between single-agent ferrous fumarate and the combination ferrous product limited interpretation of results in terms of possible effects due to other components, such as ascorbic acid.     

Detection of a Rare Mutation in An Iranian Family: Codons 37/38/39 (7 bp Deletion)

We recently found a rare β⁰-thalassemia (β⁰-thal) mutation, namely codons 37/38/39 (?GACCCAG), in a consanguineous family from southeast Iran. The first cousin couple was heterozygous for the mutation. They had a healthy 4-year-old daughter and were referred to us for prenatal diagnosis at 6 weeks gestation in the second pregnancy. The fetus, based on results of sequencing of the β-globing gene, was homozygous for the same mutation. Results of amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) on detection of this 7 bp deletion, and also restriction fragment length polymorphism (RFLP) analysis confirmed the homozygosity of the fetus.     

Anemia and iron deficiency in heart failure: a review of echocardiographic features

Anemia and iron deficiency are often associated with heart failure, influencing the symptoms and prognosis. Correction of anemia and iron deficiency improves functional capacity and decreases hospitalizations. Many studies have analyzed echocardiographic parameters in iron deficiency and anemia and their evolution after iron treatment; however, the heterogeneity of the results makes it difficult to draw conclusions. The aim of this paper is to review the echocardiographic parameters during anemia and iron deficiency, and their evolution after treatment. Available data suggest that they lead to ventricular and atrial remodeling, a decrease in ventricular contractility, and an alteration of ventricular relaxation, although in heart failure with preserved ejection fraction these changes are not significant. Anemia and iron deficiency also increase systolic pulmonary artery pressure. There is consistent evidence that correction of these comorbidities leads to a reduction in preload and left ventricular cavity dimensions, an improvement in diastolic and load‐independent ventricular systolic function parameters, and a decrease in systolic pulmonary artery pressure. However, the evidence is less consistent about the changes produced in ventricular hypertrophy, load‐dependent systolic function parameters, and E‐wave. Generally, anemia and iron deficiency affect the echocardiographic findings, and correcting these conditions often results in improvement in the affected echocardiographic parameters.     

Distinctive Mutation Spectrum of the HBB Gene in an Urban Eastern Indian Population

Hemoglobinopathies such as β-thalassemia (β-thal) and sickle cell anemia (or Hb S [β6(A3)Glu→Val]) impose a major health burden in the Indian population. To determine the frequencies of the HBB gene mutations in eastern Indian populations and to compare with the available data, a comprehensive molecular analysis of the HBB gene was done in the normal Odisha State population. Using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), amplification refractory mutation system (ARMS) and DNA sequencing techniques, β-thal and sickle cell anemia mutations were characterized in 267 healthy individuals. Entire HBB gene sequencing showed 63 different mutations including 11 new ones. The predominant mutation HBB: c.9T?>?C was observed at a high frequency (19.57%) in the normal population. In the urban population of Odisha State, India, carrier frequency of hemoglobinopathies was found to be 18.48%, and for β-thal, the carrier rate was 14.13%, which is very high indeed. In the absence of a complete cure by any expensive treatment and drug administration, this information would be helpful for planning a population screening program and establishing prenatal diagnosis of β-thal in order to reduce the burden of such a genetic disease.