Prevalence Of Beta-thalassemia Trait Research Articles

Incidence of Facial Nerve Injury in Extracapsular Dissection vs Superficial Parotidectomy of Benign Parotid Lesions

Background: Anemia is the most common health problem during a woman life span. It has serious threats to pregnant women all over the world. Its prevalence in Pakistan is 75%. Thalassemia trait a common cause of anemia is usually diagnosed in pregnancy after workup of anemia. Objective: To find out the frequency of beta thalassemia trait in pregnant anemic women. Study Design: Cross-sectional study. Settings: Gynecology Unit, Hayatabad Medical Complex, Peshawar Pakistan. Duration: 6 months from 9th September 2020 to 8th march 2021. Methods: A total of 193 pregnant anemic women of age 17-40 years with a gestational age of 8-28 weeks were included in the study through a non-probability sampling technique. Those with known liver, and kidney diseases and hypothyroidism and those with pregnancy-related bleeding were excluded. Blood samples were sent for peripheral smear and Hb-electrophoresis and all the parameters were noted in the proforma. Results: Means ±SD for age was 28.35 ± 6.713 years, for gestational age was 17.08 ± 4.620 weeks and for Hb level was 7.71 ± 1.425 g/dl. 25.9% of patients were observed in 21-25 years of age. Cousin marriages were recorded in 71.5% of patients. 60.6% of patients were having a family history of thalassemia while the Beta thalassemia trait was recorded in 58.5% of patients. Conclusion: 58.5% prevalence of Beta thalassemia trait in pregnant women was observed. It was more common in age group 21-25 years. Cousin marriages and family history are the major causes of thalassemia.

Prevalence of Beta Thalassemia Trait Among Anemic Pregnant Patients

Background: Anemia is the most common health problem during a woman life span. It has serious threats to pregnant women all over the world. Its prevalence in Pakistan is 75%. Thalassemia trait a common cause of anemia is usually diagnosed in pregnancy after workup of anemia. Objective: To find out the frequency of beta thalassemia trait in pregnant anemic women. Study Design: Cross-sectional study. Settings: Gynecology Unit, Hayatabad Medical Complex, Peshawar Pakistan. Duration: 6 months from 9th September 2020 to 8th march 2021. Methods: A total of 193 pregnant anemic women of age 17-40 years with a gestational age of 8-28 weeks were included in the study through a non-probability sampling technique. Those with known liver, and kidney diseases and hypothyroidism and those with pregnancy-related bleeding were excluded. Blood samples were sent for peripheral smear and Hb-electrophoresis and all the parameters were noted in the proforma. Results: Means ±SD for age was 28.35 ± 6.713 years, for gestational age was 17.08 ± 4.620 weeks and for Hb level was 7.71 ± 1.425 g/dl. 25.9% of patients were observed in 21-25 years of age. Cousin marriages were recorded in 71.5% of patients. 60.6% of patients were having a family history of thalassemia while the Beta thalassemia trait was recorded in 58.5% of patients. Conclusion: 58.5% prevalence of Beta thalassemia trait in pregnant women was observed. It was more common in age group 21-25 years. Cousin marriages and family history are the major causes of thalassemia.

Thalassemia and Hemoglobinopathy Screening in Women Attending Antenatal Clinic at a Tertiary Care Center in Uttarakhand, India: A Re-look at the Laboratory Parameters Mandating High-Performance Liquid Chromatography Workup.

Thalassemia and hemoglobinopathies are the most common inherited hematological disorders. Of these, β thalassemia is the commonest disorder reported in India, followed by certain hemoglobinopathies encountered in different regions of the country. The data pertaining to the incidence of these disorders in the Uttarakhand region of India are sparse. To ascertain the prevalence and spectrum of thalassemia/hemoglobinopathies amongst antenatal women in Uttarakhand. The study also aimed to analyze the ability of red cell indices in differentiating beta thalassemia trait (BTT) from mild iron deficiency anemia (IDA). A total of 460 pregnant women in the first trimester of pregnancy were screened by cation exchange high-performance liquid chromatography. Retention time and proportions of normal/abnormal hemoglobin peaks were documented in all cases. Hemoglobin A2 (HbA2) values of ≥4% were taken as a cut-off for diagnosing BTT. Blood samples were also collected for complete blood counts, reticulocyte counts, and serum ferritin. The ability of the various discriminatory indices to differentiate between IDA and BTT was also assessed. The prevalence of BTT and hemoglobin D-Punjab trait amongst pregnant women was found to be 2.6% and 0.2%, respectively. RBC count, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH) were found to be moderately strong predictors of BTT, with an area under the curve of 0.860, 0.857, and 0.842, respectively, which were comparable to the discriminatory indices found to be most useful in this study. In view of the 2.6% prevalence of BTT in antenatal women in this region of Uttarakhand, a routine screening will be helpful in detecting carriers early in the antenatal period. Careful interpretation of red cell indices is crucial to the distinction between BTT and IDA. Discriminatory indices are reasonably accurate in differentiating BTT from mild iron deficiency, but for practical purposes, MCV and MCH provide equivalent information to identify cases that require further workup.

Pre-Marital Screening: Thalassemia Trait and Iron Deficiency Anemia in Rahim Yar Khan, Pakistan

Objective: β- thalassemia Minor (BTM) and Iron Deficiency Anemia (IDA) are the main causes of microcytic hypochromic anemias currently in Asian subcontinent. Healthcare facilities in Pakistan have to encounter massive number of patients with anemias every day, where we need to distinguish between (IDA) and (BTM). A number of discrimination indices have been suggested for rapid differentiation of these entities over parameters achieved from automated blood-count analyzers. Objective. To determine the prevalence of β-thalassemia and IDA amongst the unmarried youngsters of Rahim Yar Khan. Methods: A cross-sectional study performed in Sheikh Zayed Medical College/Hospital Rahim Yar Khan, Pakistan in 04 months from October 2021 to February 2022, 506 unmarried youngsters were included in the study. CBC, Serum Ferritin and Hb Electrophoresis were performed in Hematology Section, Pathology Department of SZMC Rahim Yar Khan. Results: Out of 506 subjects, the prevalence of beta thalassemia trait was found 3.3% in males followed by 2.2% in females whereas the prevalence of IDA was 1.7% in males followed by 1.3% in females. Conclusion: These results indicates that intensive education and awareness strategies are necessary to increase consumption of iron-rich dietary sources. This screening program is beneficial in prevention of high-risk marriages. Screening of spouses by pre-marital screening program is an actual way to control β-thalassemia major. Keywords: βeta-thalassemia trait (BTT), iron deficiency anemia (IDA), premarital screening.

English

BACKGROUND Among microcytic hypochromic anaemias, the most common disorders are iron deficiency anaemia (IDA) and co-pathological conditions such as α- or βthalassemia (α- or β- thalassemia) traits. Thalassemia minor is often an asymptomatic carrier state but exhibit marked microcytosis that can be mistaken for iron deficiency. About 1.5 % of the global population (80 to 90 million people) are carriers of thalassemia and more than 200 mutations are described in thalassemia, the only effective way to reduce burden of thalassemia is to prevent birth of homozygotes. The purpose of this study was to estimate the prevalence of beta thalassemia trait (BTT) in adult individuals with microcytic hypochromic anaemia and among antenatal mothers visiting the Obstetric Department of SDMCMSH. METHODS In this prospective descriptive study, 101 adult patients between 18 and 40 years who were in in-patient department (IPD) or attending out-patient department (OPD) from department of general medicine and department of haematology were studied during a period of one year from October 2018 to October 2019 and their blood sample was sent for complete blood count (CBC), iron studies and haemoglobin electrophoresis. All the data was entered in Microsoft Excel software and analysis was done using Minitab software. P value of less than 0.05 was considered statistically significant. RESULTS Out of the 101 microcytic hypochromic anaemia patients analysed, 7 patients have beta thalassemia trait. 4 of the 7 are females. Their haemoglobin electrophoresis report showed high HBA2 value of > 3.8. There were no carriers among the pregnant individuals tested. A regression model was fitted for predicting HBA2 based on values of serum iron, serum ferritin, and mean corpuscular volume (MCV). CONCLUSIONS In conclusion, identification of thalassemia gene mutations in our population is necessary because of the country’s multiracial population. This will prevent unnecessary treatment with iron supplements in thalassaemic patients and also helps in pregnant women to prevent thalassemia major children. Molecular genotyping provides a rapid and reliable method for identification of common, and unknown α - and β - gene mutations, which help to diagnose unexplained microcytosis and thus prevent unnecessary iron supplementation. We conclude that microcytosis due to thalassemia is common in north Karnataka. This illustrates the importance of adequate prenatal and laboratory investigation for these abnormalities. KEYWORDS Beta Thalassemia Trait, Microcytosis, Haemoglobin Electrophoresis, Antenatal Screening, Thalassemia

Utility of screening tools to differentiate beta thalassemia trait and iron-deficiency anemia - do they serve a purpose in blood donors?

BackgroundThe aim of this study was to estimate the prevalence of the beta thalassemia trait (BTT) and differentiate it from iron-deficiency anemia (IDA) among blood donors.MethodsA total of 1,000 samples from blood donors were subjected to complete hemogram with red blood cell indices. Further, Mentzer index (MI) was calculated for samples with mean corpuscular volume (MCV) below 80 fL and mean corpuscular hemoglobin (MCH) below 27 pg. Samples with Mentzer index <12 were subjected to naked-eye single-tube red cell osmotic fragility test (NESTROFT) followed by hemoglobin electrophoresis in positive cases. Serum ferritin was assessed in NESTROFT-negative cases.ResultsThe prevalence of BTT among blood donors was 3.7% and that of microcytosis among donors was 8.6%. The prevalence of BTT among microcytic donors was 41.8% while that among those with IDA was 11.6%. A value of MI <13 was highly sensitive in the diagnosis of BTT. MI >13 was found to have both high specificity and high sensitivity for diagnosing IDA.ConclusionA moderately high prevalence of BTT was observed among blood donors. Presently, no screening program is mandatory for screening of BTT among blood donors. Indices like MCV, MCH, and Mentzer Index were thus found to be effective to screen for BTT and IDA among blood donors, and NESTROFT was a cost-effective mass screening method to differentiate BTT and IDA.

Pattern of hemoglobinopathies and thalassemia in Manipur, India

Background: Hemoglobinopathies are the commonest genetic disorders worldwide. Thalassemia Major, Thalassemia Intermedia and Sickle Cell Disease are the major disorders that require lifelong management and are to be considered for prevention. In India, Beta-Thalassemia is prevalent across the country, with an average frequency of carriers being 3-4%.Methods: This is a cross sectional study conducted between June 2016 - May 2017 in the Department of Medicine, RIMS Imphal in 453 patients as a workup for anemia and clinically suspected cases of Hemoglobinopathy or beta thalassemia. Blood samples were collected and sent for Haemoglobin Electrophoresis using cellulose alkaline technique.Results: Among the 453 cases of the population surveyed, 35% showed the presence of abnormal hemoglobin. 16% were found to be beta thalassemia carrier, 11.69% HbE trait, 6.62% Homozygous HbE, 0.4% beta thalassemia and 0.7% had Hereditary persistence of HbF.Conclusions: High prevalence of Beta Thalassemia trait occurred more frequently than other Hemoglobinopathies. The study concludes that it is immensely important epidemiologically to explore the haemoglobin variants in Manipur so that the carriers can be detected for prevention of more serious disorder in the future generations.

Prevalence of Beta Thalassemia Trait in the Population of Garhwal (Uttarakhand): An Alarming Call for the Himalayan Region

Prevalence of Beta Thalassemia Trait in the Population of Garhwal (Uttarakhand): An Alarming Call for the Himalayan Region

A Review on Situation of Congenital Disorders and Access to Community Genetics Services in Bangladesh

About 2-3% of all live births suffer from congenital abnormality globally and 70% of those are preventable through community genetics services. There is no population-wide data on congenital disorders in Bangladesh. The objectives of this article are: to identify the prevalence of the common congenital disorders, to assess the factors influencing congenital disorders and to assess the situation of access to the community genetics services in Bangladesh. A review has been conducted with formal and informal searches. The estimated prevalence of congenital abnormalities is about 2-4% in live births along with still born and aborted fetus. Neural tube defects are the commonest congenital abnormality. Other common defects involve gastrointestinal, cardiovascular, genitourinary and musculoskeletal system. Down’s syndrome shares majority, nearly 71%, of all chromosomal abnormality. The ethnic variations in the prevalence of Beta thalassemia trait and HbE trait are respectively 4.1% and 6.1% in Bengali students of nine and ten grade and that in the tribal students of same grade 4.2% and 41.7%. The electrophoretic patterns and distributions of hereditary hemoglobin disorders in cases are: thalassemia trait-47.14%, HbE-beta thalassemia-30.47%, HbE trait-13.3%, HbE disease-5.71% and thalassemia major-3.33%. The prevalence of haemophilia-A is 0.4/100,000 males that of congenital hypothyroidism is 1/(1300-1353) newborns. Key factors associated with the burden of congenital disorders in Bangladesh are: high prevalence of carriers of genetic diseases along with consanguineous marriage, inadequate antenatal check-up, high rate (nearly 72%) of unskilled home delivery and lack of community genetics services. Political and professional prioritization of community genetics services through the existing primary health care resources is a priority social, health and economic interest for effectively addressing the problem of congenital disorders in Bangladesh.

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 Beta-Thalassemia Trait and Abnormal Hemoglobins in the Province of Adıyaman, Turkey

Background/Aims: Thalassemia is one of the most common hereditary disorders in Turkey. The aim of this study was to determine the prevalence of the beta-thalassemia trait and abnormal hemoglobins in the province of Adıyaman in Turkey. Methods: The study included 3571 high school students of both sexes; aged 12–22 (mean 16.59 ± 1.34). After they received information about thalassemia, they were screened for beta-thalassemia and abnormal hemoglobin using complete blood count (CBC) and quantification of hemoglobin. Hemoglobin was fractionated using HPLC. Results: The beta-thalassemia trait was found in 38 students (1.06%), and abnormal hemoglobin in seven students (0.20%). Of the latter, four carried HbD Los Angeles, two HbS, and one HbE-Saskatoon. Conclusion: The prevalence of the beta-thalassemia trait and abnormal hemoglobin in the province of Adıyaman is low, compared to the rest of Turkey. Our results seem to reflect the heterogeneity of beta-thalassemia in the province of Adıyaman and may be of value for genetic counseling and premarital screening.

A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population

In Iran, the prevalence of beta-thalassemia trait is approximately 4–8% in most areas, and in Mazandaran province 10% of the population are carriers. Twenty four beta-globin gene mutations were identified in 1635 persons with beta-thalassemia trait using reverse dot blot and restriction fragment length polymorphism analysis. The predominant mutations included IVSII-1 (G-A) (61%), codon 30 (G-C) (7.5%), codon 22 (− 7 bp) (6.2%), codon 8 (− AA) (5.4%) and IVSI-5 (G-C) (3.6%). These mutations were in different haplotypes, with IVSII-1 being the most heterogeneous. Other less frequent mutations included IVS-II-745 (C-G), codon 44 (− C), codon 39 (C-T), codon 5 (− CT), IVS I-110 (G-A), IVSI-130 (G-C), Fr8/9 (+ G), IVSI-1 (G-A), and IVSI (− 25 bp). All rare mutations except IVSI-130 were encountered in a unique haplotype. The diversity of these mutations reflects the historical admixture of genes in the region. The high prevalence of IVSII-1 (G-A) compared to other parts of the country and the world suggests a founder effect. Our data provide a basis for genetic counseling and prenatal diagnosis.

Prevalence of beta-thalassemia trait in premarital screening in Al-Hassa, Saudi Arabia.

BACKGROUNDThe Al-Hassa area is one of the regions in Saudi Arabia where hemoglobinopathies are prevalent. The Saudi Ministry Of Heath designed a protocol for premarital testing after the royal decree in December 2003. The protocol was implemented in a February 2004 order. The aim of this study was to determine the prevalence of β-thalassemia trait among subjects coming for premarital screening in the Al-Hassa area.SUBJECTS AND METHODSFrom February 2004 to November 2004, healthy subjects coming to six marriages consultation centers in the Al-Hassa area underwent routine mandatory tests. Subjects were considered to have β-thalassemia trait if they had a mean corpuscular volume (MCV) <80 fL and/or a mean corpuscular hemoglobin (MCH) <27 pg and a hemoglobin A2 level >3.2%. Venous blood was taken into an EDTA tube and the complete blood count and red blood cell indices were measured by a Coulter automated cell counter on the same day of hemoglobin collection. Electrophoresis was done on cellulose acetate.RESULTSAll Saudi participants (n=8918), including 4218 (47.3%) males and 4700 (52.7%) females were screened. The prevalence of β-thassemia trait with high hemoglobin A2 and microcytic hypochromic anemia was 3.4% (307/8918).CONCLUSIONIn countries with a high prevalence of hemoglobinopathies, a premarital screening program is helpful for identification and prevention of high-risk marriages. With a 3.4% prevalence of β-thalassemia trait in premarital couples, future comprehensive programs are needed to know the actual prevalence of β-thalassemia in Al-Hassa.

Impact of a national β-thalassemia carrier screening program on the birth rate of thalassemia major

In Taiwan, the prevalence of beta-thalassemia trait is at least 1.1%. The Taiwan government initiated a National Screening Program in 1993. Herein we examine the differences before and after the initiation of this program. Data consisting of the total number of patients and the birth prevalence beta-thalassemia major were collected. Ninety-one patients with transfusion-dependent thalassemia treated in our hospitals were included for analysis. DNA analysis was performed for 86 patients. In Taiwan 361 patients exist. The birth prevalence of per 100,000 births was 5.6% in 1994 and declined to 1.21 in 2002. Fourteen patients were born after the program's initiation. DNA analysis of them revealed a new mutation (IVS-1-5 (G-C)), which was introduced through an inter-racial marriage. Otherwise, the remainder was the common beta-thalassemia mutations found in Taiwan. Despite how successful the National Screening Program is, a few doctors still failed to detect parents at risk. In addition, we are concerned about the emerging problem of the increase of interracial marriages where parents may not have appropriate screening. Hence, postgraduate education programs for physicians, health education for the general population, and timely screening of inter-racial marriage should become a priority.

Hematological status of beta-thalassemics in Madras.

Although rapid technical advances have taken place in the diagnosis of beta-thalassemia, still the hematological factors were found to be suitable screening test in areas like Indian subcontinent where a high prevalence of beta-thalassemia trait was observed. Among various thalassemias reported in Asian Indians, beta-thalassemia account for about 80% and is responsible for very high infantile mortality. Despite this, little is known about the hematological status of beta-thalassemias among this ethnic group which is associated with more than five different predominant beta-globin mutation with high frequency and variable number of rare ones. The present study is the first report of hematological status of beta-thalassemia among this ethnic group particularly from Tamil Nadu, Southern India, who are still practising high degree of consanguinity. In the present study, a total number of 364 beta-thalassemics were investigated. This includes 84 cases of homozygous beta-thalassemias and the remaining 280 were heterozygotes. The hematological factors such as red cell indices, hemoglobin F and hemoglobin A2 were assessed. The results revealed a wide spectrum of hematological variables ranging from severe form as that of Mediterranean thalassemias to very mild form of anemia as that of African Negro population.