Prevalence Of Β-thalassemia Trait Research Articles

PRE-MARITAL SCREENING TESTS OF β-THALASSEMIA TRAIT IN DAKSHINA KANNADA POPULATION OF KARNATAKA

<p class="Default"><strong>Objective: </strong>β-Thalassemia is one of the familiar single gene disorders which passes from parents to offspring. The prevalence of β-thalassemia trait varies from 1-14% in different regions of India. Every year almost 9000 β-thalassemic major children are being born in the Indian sub-continent. In the present study, the prevalence of β-thalassemia trait was checked and some screening tests were performed to detect it among the Dakshina Kannada population of Karnataka.</p><p class="Default"><strong>Methods: </strong>A total of 800 youngsters were selected for the study, males being above 21 y and females above 18 y. Two ml of blood was drawn and collected in K2 EDTA bottles and complete hemogram was immediately checked. Samples which have Mean Corpuscular Volume (MCV)<80 fico litres(fl) were selected for the study. Five discriminant functions were calculated. NESTROFT (Naked Eye Single Tube Red Cell Osmotic Fragility Test) was performed in all the samples. The samples which show positive for NESTROFT and at least 2 discriminant functions were further checked for HbA2 level using cellulose acetate electrophoresis to confirm the β-thalassemia trait. A comparison was made with the normal samples which have MCV ˃ 80fl.<strong></strong></p><p><strong>Results: </strong>Prevalence of β-thalassemia trait was found to be 5.125 % in this population. The obtained values were analyzed using unpaired Student’s‘t’ test using GraphPad prism (Version-3.0). Samples of β-thalassemia trait have significant changes in the white blood corpuscles (WBC p=0.1266), red blood corpuscles (RBC p=0.0130), hemoglobin (Hb p<0.0001), hematocrit (HCT p<0.0001), MCV(p<0.0001), mean corpuscular hemoglobin (MCH p<0.0001), mean corpuscular hemoglobin concentration (MCHC p<0.0001), platelets (PLT p=0.0005), HbA2(p<0.0001) compared to normal controls.<strong></strong></p><p><strong>Conclusion: </strong>The present study shows that the people with β-thalassemia trait have a significant variation in complete hemogram compared to normal; NESTROFT and discriminant functions can be used for the screening of β-thalassemia trait in the population.</p>

Prevalence of hemoglobinopathies among marrying couples in Erbil province of Iraq

Background: Thalassemia is the most common genetic disorders worldwide, widely spread throughout the Mediterranean region including Iraq. One effective method to reduce incidence of thalassemias and sickle cell disease is premarital screening. Objective: The aim of this study was to determine the prevalence of β-thalassemia trait and other hemoglobinopathies among subjects attending the premarital screening center in Erbil. Materials And Methods: Over a period of 1 year, 6224 couples were screened for hemoglobinopathies. Screened subjects were categorized according to the result of complete blood count, serum ferritin, and hemoglobin (Hb) electrophoresis into six groups, namely, normal, β-thalassemia carriers, α-thalassemia carriers, sickle cell carriers, Hb-H (HbH) disease, and iron deficiency anemia. Results: The prevalence of β-thalassemia trait was 6.94% (864/12448) with nearly equal proportions between male and female (male to female ratio = 1:1.1). HbH disease and sickle cell trait were less common. Iron deficiency anemia was reported in 52 subjects (0.4%). Conclusion: We found a relatively high prevalence rate of heterozygous β-thalassemia among the studied sample in comparison to prevalence figures from reports in the nearby geographic locations.

A study of thalassemia screening of 1000 medical students and comparison of various screening methods

Background: β-thalassemias are widespread throughout many countries including India. India has 3.5 crores thalassemic carriers with about 10,000 thalassemic birth every year in India. In Gujarat, there are about 6000 thalassemic children. The prevalence of β-thalassemia trait (BTT) is not uncommon in India and its incidence is rising in certain states including Gujarat. Objective: (1) To evaluate the prevalence of BTT among medical students above 18 years in C.U. Shah medical college; (2) To compare specificity of NESTROFT (Naked Eye Single Tube Red Cell Osmotic Fragility Test) with Hb-Electrophoresis method for screening of BTT; (3) To compare specificity of Mentzer’s index with Hb-Electrophoresis method for screening of BTT; (4) To create awareness among medicos about BTT. Materials and Methods: Blood (2 mL) was collected from 1000 medical students; complete blood count (CBC), peripheral smear examination, and NESTROFT were done on all samples. HbA2 levels were measured by fully automated cellulose acetate electrophoresis GENIOS-INTERLAB on suspected samples for BTT on basis of CBC, peripheral smear findings, and NESTROFT. HbA2 levels >3.5 were taken as gold standard for diagnosing BTT. Results: In this study, we found the incidence of BTT being 4.1% (41/1000), that of iron deficiency anemia being 7.3% (73/1000) and that of megaloblastic anemia being 5.4% (54/1000). Three students were found to be sickle cell trait and one to be Hb D. These four cases were confirmed by HPLC at higher center. Conclusion: Prevalence of BTT is high in India and aggressive control measures should be taken to prevent it. Government and NGOs should concentrate attention to educate MEDICOS and public at large. This will decrease financial burden on families of thalassemia major patients and society at large.

Prevalence of Beta-Thalassemia Trait Among Students of the University College of Science and Technology-Palestine

Thalassemias are a group of recessively inherited genetic disorders mostly common in the Mediterranean, the equatorial and near equatorial regions of Africa and Asia. Large number of mutations cause abnormal globin gene expression and result in complete absence or reduction of globin chain synthesis which lead to thalassemia. β-thalassemia is the result of deficient or absent synthesis of β-globin chains, leading to excess α chains. This study was conducted in order to determine the prevalence of β-thalassemia trait among students of University College of Science and Technology (UCST) in Khan Younis, Gaza Strip-Palestine. Allele Specific PCR (ASPCR) was used to determine the intervening sequence IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The study population consisted of 348 subjects recruited from the UCST (144 males: 41% and 204 females: 59%). Blood samples were collected in EDTA tube for CBC. Mentzer index was calculated for all samples. Blood film was done and stained using Giemza stain. DNA was isolated from 12 samples that had normal RBCs and low MCV and whose Mentzer index was >13. These samples were subjected to Allele Specific PCR in order to detect IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The hemoglobin level in females was found to be about 20% less than the level recorded in males (11.40±1.01 vs 14.30±0.79 g/dl). The results also revealed that there were significant differences in all measured CBC parameters and indices between males and females except that for WBC, RBC, MCHC and PLT. IVSI-6 (T →C) mutation was detected only in two samples and both were heterozygous. IVSI-110 (G →A) mutation was not detected in this study. The present results showed that the case of β-thalassemia carrier have normal RBC, MCH, Hb and normal Mentzer index which could be missed in routine screening test.

Prevalence of β-Thalassemia Trait and Abnormal Hemoglobins in Sanliurfa Province in Southeast Turkey

Thalassemia is one of the most common hereditary disorders in Turkey, especially in the Mediterranean region of the country. The purpose of this study was to determine the frequency of the β-thalassemia (β-thal) trait and abnormal hemoglobins (Hbs) in couples who applied for premarital screening in Sanliurfa Province, in the southeastern region of Turkey, a province with the first reported incidence of β-thal and abnormal Hbs. In the present study, in order to detect the prevalence of the β-thal trait and abnormal Hbs in Sanliurfa Province, Turkey, a total of 37,962 couples who applied for premarital screening were analyzed. From January 2011 through March 2014, red blood cell (RBC) counts and Hb fractionation were carried out by a cell counter and high performance liquid chromatography (HPLC), respectively. The prevalence of β-thal with high Hb A2 (>3.5%) values was found at rates of 2.44% (n = 1853) in Sanliurfa Province. Additionally, the abnormal Hb rate was 1.57% (1193/75,924), and Hb S (HBB: c.20T > A), Hb C (HBB: c.19G > A) and Hb D-Punjab (HBB: c.364G > C) were reported as 0.50, 0.38 and 0.69, respectively. This study is the first to establish the frequency of β-thal and abnormal Hbs in Sanliurfa Province, which has the highest birth frequency. We report that the frequency of the β-thal trait is at a high-risk level compared to other cities in Turkey. Due to the high risk of β-thal in Sanliurfa Province, a premarital screening program would be of great value in informing parents about offspring with β-thal.

Prevalence of β-Thalassemia Trait and Abnormal Hemoglobin in Premarital Screening in the Province of Izmir, Turkey

Background/Aims: Thalassemia is one of the most common hereditary disorders in Turkey. The aim of our study was to determine the prevalence of the β-thalassemia trait and abnormal hemoglobin in couples who applied for premarital screening in the third largest Turkish province of Izmir in the Aegean region. Methods: From January 2011 to March 2012, we tested 19,277 couples at the Karşıyaka Public Health Laboratory, Thalassemia Unit for the β-thalassemia trait and abnormal hemoglobin using a high-performance liquid chromatograph, a hematology analyzer. Results: The β-thalassemia trait with increased HbA2 (>3.5%) and abnormal hemoglobin was found in 4.96% (1912/38,554) and 0.53% (206/38,554) people, respectively. Of abnormal hemoglobin findings, HbS was determined in 128 people (0.33%), HbD in 50 (0.13%), HbE in 24 (0.06%), and HbC in four (0.01%). Furthermore, in 20 of the 19,277 couples (0.05%), both partners had the β-thalassemia trait and were referred to counseling. Conclusion: The prevalence of the β-thalassemia trait in the province of Izmir is high compared with other cities of Turkey. Izmir is a high-risk province for β-thalassemia and sickle-cell anemia. Therefore, premarital screening is essential to prevent new hereditary hemoglobinopaties.

Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study

The population of India is extremely diverse comprising of more than 3,000 ethnic groups who still follow endogamy. Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. The data on the prevalence of β-thalassemias and other haemoglobinopathies in different caste/ethnic groups of India is scarce. Therefore the present multicentre study was undertaken in six cities of six states of India (Maharashtra, Gujarat, West Bengal, Assam, Karnataka and Punjab) to determine the prevalence of haemoglobinopathies in different caste/ethnic groups using uniform methodology. Fifty-six thousand seven hundred eighty individuals (college students and pregnant women) from different caste/ethnic groups were screened. RBC indices were measured on an automated haematology counter while the percentage of HbA(2), HbF and other abnormal Hb variants were estimated by HPLC on the Variant Hemoglobin Testing System. The overall prevalence of β-thalassemia trait was 2.78% and varied from 1.48 to 3.64% in different states, while the prevalence of β-thalassemia trait in 59 ethnic groups varied from 0 to 9.3%. HbE trait was mainly seen in Dibrugarh in Assam (23.9%) and Kolkata in West Bengal (3.92%). In six ethnic groups from Assam, the prevalence of HbE trait varied from 41.1 to 66.7%. Few subjects with δβ-thalassemia, HPFH, HbS trait, HbD trait, HbE homozygous and HbE β-thalassemia as well as HbS homozygous and HbS-β-thalassemia (<1%) were also identified. This is the first large multicentre study covering cities from different regions of the country for screening for β-thalassemia carriers and other haemoglobinopathies where uniform protocols and methodology was followed and quality control ensured by the co-ordinating centre. This study also shows that establishment of centres for screening for β-thalassemia and other haemoglobinopathies is possible in medical colleges. Creating awareness, screening and counselling can be done at these centres. This experience will help to formulate a national thalassemia control programme in India.

Bayesian Estimates of the Prevalence of β-Thalassemia Trait in Voluntary Blood Donors of Central India: A Survey

Early detection of β-thalassemia (β-thal) trait is important. Voluntary blood donors represent an important group who are accessible and cooperative for this purpose. However, the usefulness of this population in β-thal trait detection programs has not been studied in India. We conducted a hematological survey of 5,045 blood donors who visited the Bhopal Memorial Hospital & Research Centre, Bhopal in central India. Using robust Bayesian methods, we estimated the prevalence of β-thal trait. The overall prevalence of β-thal trait in the study population was 9.59% [95% confidence interval (95% CI) 8.78–10.4%]. The prevalence of β-thal trait varied across the states of origin and within the state of Madhya Pradesh. We observed a cline effect for β-thal trait prevalence in relation to the latitude (p = 0.024). We conclude that blood donors offer an attractive adjunct to β-thal trait detection in national programs. Our study also offers insights into the β-thal trait gene flow and migration in India.

PREMARITAL SCREENING TEST RESULTS FOR β-THALASSEMIA AND SICKLE CELL ANEMIA TRAIT IN EAST MEDITERRANEAN REGION OF TURKEY

Hemoglobinopathies are common diseases in Mediterranean region of Turkey. In this study, the results of a 3-year premarital screening program are reported in Kahramanmaras province, which is located in East Mediterranean region. A total of 48,126 persons were screened in this program. Hematological analyses and electrophoresis were done to identify carriers. The prevalence of β-thalassemia trait and of sickle cell anemia trait, which were 2.1% and 0.5% in Turkey, were found to be 2.8% and 0.4%, respectively, in our study. Of the carriers of the β-thalassemia trait, 82% had high hemoglobin A2, 34% had high hemoglobin F, and 18% had both high hemoglobin F and hemoglobin A2. β-Thalassemia trait in Kahramanmaras is slightly higher than the average rate in Turkey. However, sickle cell anemia trait is similar to Turkey's averages.

Prevalence of β-Thalassemia Trait and Glucose-6-Phosphate Dehydrogenase Deficiency in Iranian Jews

beta-thalassemia is the most common inherited single gene disorder worldwide, and glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme deficiency. The goal of this study was to compare the frequency of beta-thalassemia trait and G6PD among the Moslem and Jewish populations in Shiraz, southern Iran. We examined 201 Moslems and 187 Jewish subjects who were selected by random sampling. For diagnosis of thalassemia, complete blood count and hemoglobin electrophoresis were carried out and for G6PD deficiency, fluorescent spot test methods were used as a screening test. Among Moslem subjects, 14 cases (7.0%) were diagnosed as carriers of beta-thalassemia minor, whereas no carriers were detected among Jewish subjects. Seven Moslems (7%) and eight Jewish subjects (7.5%) were found to have G6PD deficiency. Among both groups the most common mutation was the Mediterranean type (563 C>T). In one Moslem subject, the detected mutation was 1003 (G>A) and in two Jewish subjects the mutations were 1376 (G>T) and G6PD A-. Whereas the frequency of beta-thalassemia minor among Moslems is higher than in the Jews in Shiraz, the frequency of G6PD deficiency was not significantly different in the two populations. These findings suggest that obligatory premarital beta-thalassemia screening for Jews in the community is not necessary, whereas neonatal screening for G6PD could be useful for both Jews and Moslems.

PREVALENCE AND HEMATOLOGICAL CHARACTERISTICS OF β-THALASSEMIA TRAIT IN GAZIANTEP URBAN AREA, TURKEY

Thalassemia is one of the most common hereditary disorders in the Mediterranean region and studies have shown that the prevalence of β-thalassemia trait is high in the southern part of Turkey. Gaziantep is a city located near this region and, therefore, the authors investigated the prevalence and hematological characteristics of the β-thalassemia traits in primary school students in Gaziantep. Sixty primary schools were selected from a list of all primary schools using a systematic sampling method. Data were collected by a face-to-face questionnaire. Osmotic fragility testing (OFT) using single-tube 0.36% NaCl solution was used for the screening of β-thalassemia. Students who were positive in regard to OFT went through a series of testing, including a complete blood count, serum ferritin levels, serum iron, and hemoglobin electroforesis. Chi-square test was used in statistical analysis. Of the 2439 students enrolled to the study from the selected 60 classrooms, 1353 (55.5%) were male and 1086 (44.5%) were female. The OFT was positive in 115 (4.7%) of the participants. CEA and confirmatory HPLC results of the students who were positive OFT indicated that 70 (60.8%) had normal results, 33(28.7%) showed high HbA2 levels, 7 (6.1%) showed high HbA2 and HbF levels, 5(5.2%) showed high HbA2 and Fe-deficiency anemia, and none showed increased HbF levels. The overall prevalence of β-thalassemia trait was 1.84%. No gender differentials and highest rates among the Kahramanmaras (3.5%) and Sanliurfa (1.7%) born students were the other significant findings of this study. Implementation of a routine carrier-screening program offering genetic counseling, prenatal diagnosis, and selective termination of affected fetuses would be a wise approach to eliminate this disease from the region.

Premarital Screening of Beta-Thalassemia Trait in the Province of Denizli, Turkey

A premarital screening program aiming at reducing the incidence of thalassemia major was started under the auspices of the Regional Health Administration in 1995 in the city of Denizli in the Aegean region of Turkey. In this report we assessed the 4-year results of the screening program. All couples who applied for marriage procedures were screened for β-thalassemia trait by automatic red cell indices and Hb A₂ determination. The couples at risk were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus. From October 1995 to August 1999, a total of 19,804 subjects (9,902 couples) were recruited for this study. The prevalence of β-thalassemia trait with increased Hb A₂ was found to be 2.6% (514/19,804). In addition to the thalassemia trait, 22 patients (0.11%) had sickle trait. In 15 of the 9,902 couples, both partners were found to be carriers of the β-thalassemia trait. After genetic counseling, 2 of the 15 planned carrier marriages were canceled. Seven couples declared that they do not want to have a child at present. Prenatal diagnosis was sought by 6 couples. One fetus was found to be normal, 4 had thalassemia minor and 1 had thalassemia major; this pregnancy was terminated by elective abortion. This study indicated that premarital screening is a very useful tool for detecting carrier couples and an effective way of controlling thalassemia major.

Increase with Age in the Prevalence of β-Thalassemia Trait among Sicilians

Increase with Age in the Prevalence of β-Thalassemia Trait among Sicilians