Prevalence Of Beta-thalassemia Research Articles

DIAGNOSTIC VALUE OF MENTZER INDEX FOR THALASSEMIA PREDICTION IN SUSPECTED PATIENTS OF PUNJAB

Thalassemia is a genetic disease and became a worldwide problem. Worldwide, about 3-8% of population are suffered from beta thalassemia. The aim of this study was to use Mentzer index for predicting the beta thalassemia patients in the population of Punjab. This was a retrospective study conducted between 2021 September to 2022 June. In the current study, about n=1000 patients were selected to screen out for beta thalassemia in which n=607 were positive while the remaining were negative for the disease. Their sample were analyzed by using ABACUS 380 hematology analyzer for CBCs and hemoglobinpathies analysis and HPLC (high pressure liquid chromatography) for Hb analysis. Out of n=607 patients, 47 have beta thalassemia major in which 22 were male and 25 females respectively. In this study thalassemia positive females were 57.85% (n=350/605) and males were 65.06% (n=257/395). The prevalence of beta thalassemia was high (65.9%) in 16-30 years age group (P=<0.001).N=345 patients were positive for beta thalassemia minor in which 130 were male and 215 were female respectively. About n=179 patients were positive for beta thalassemia intermedia in which 89 were male and 90 were female patients. Thalassemia major was characterized by low level of Hb, HbA2 values between 3.5 to 9%, MCV between 50<70 fl and MCH >12<20 pg. But for beta thalassemia intermedia, the Hb were between 7 and 10 g/dl, MCV from 50-80fl and MCH between 16-24 pg. Thalassemia minor was categorized by slight low level of Hb, HbA2 values between 11.5-15.3%, RBCs between 4.8-5.3 million cells per microliter, MCV between 70<79 fl, MCH <27 pg and MCHC <30 g/dl respectively. Hemoglobinpathies such as Hb, HbA1, HbF and HbA were found significant (P=0.00) in both male and female patients This study recommends many diagnostic facilities, prevention centers to speed up the awareness camp and communicate with the family for screenings in regions of Punjab. Mentzer index could be used to predict the diagnosis of beta thalassemia.

The prevalence and genetic characterization of 22 750 cases of beta-thalassemia in Fujian Province

Objective To analyze the molecular characterization and prevalence of beta-thalassemia in Fujian Province. Methods RDBwas applied to identify 17 point mutations of beta gene and 3 point mutations of alpha gene. Gap-PCRwas applied to identify 3 deletions of alpha gene, MLPA and DNA sequecing were applied to identify the rare mutational genotype of beta-thalassemia. Results 3515 cases (15.45%)of β-thalassemia were confirmed. 15 genotypes were found in the studied subjects. βIVS-2-654(C→T)/βN , βCD41-42(-TCTT)/βN, βCD17(A→T)/βN, β-28(A→G)/βN, βCD27-28(+ C)/βN, and βCD26(G→A)/βN were the mostcommon genotypes in Fujian Province, accounting for 41.76%, 30.50%, 12.46%, 5.46%, 2.93% and 1.82% respectively , It was found that the total frequency of them was 94.93% in our study.13 cases of deletional β-thalassemia were detected, including 6 cases of Southeast Asia subtype (SEA-HPFH), 6 cases of Chinese subtype Gγ(Aγδβ)0 and 1 case of 1.35kb deletion(NG-000007.3: g.69997-71353 del 1357) in one subject. 13 cases of rare β-thalassemia were detected, including Hb J-Bankok in 8 subjects and Hb New York in 5 subjects were diagnosed. Conclusions As a high-risk area forβ-thalassaemia, the detection of deletional β-thalassemia and rare β-thalassaemia subtypes should be screened in addition to the common β-thalassemia genes, so as to demonstrate the results of β-thalassemia gene detection in this region. Those screening results are useful for genetic counseling and can effectively reduce the birth of children with moderate to severe β-thalassaemia. (Chin J Lab Med, 2018, 41: 928-933) Key words: beta-Thalassemia; Genetic testing; Genotype; Gene frequency

Beta-Thalassemia (BT) Prevalence and Treatment Patterns in Italy: A Survey of Treating Physicians

Background: BT is an important public-health challenge in Italy. Seminal work has begun to better characterize disease prevalence, treatment patterns, and institutional capabilities within Italy.Objective: Evaluation of current BT prevalence and treatment in Italy was done using proprietary IMS Health hospital audit data as the basis of a targeted survey of hematologists, pediatricians, and internists treating BT. We estimated the prevalence and distribution of patients with transfusion-dependent (TD) BT major (BT-M) and intermedia (BT-I), and non-transfusion-dependent BT (NTD BT), and characterized current treatment patterns.Methods: A preliminary list of possible BT-treating centers was extracted from the IMS Health audit of hospitals and treatment centers across Italy, covering 656 public hospitals and accounting for 205,021 beds (85% of hospital capacity in Italy).The IMS Health hospital audit also included 95% of the pharmaceutical Direct Patient Distribution channel. This list was reviewed to identify centers receiving iron-chelating agents, thus identifying a total of 365 potentially BT-treating hospitals. One hematologist or pediatrician in each potential hospital ward was contacted by telephone. The physician was asked to provide details about the number of TD BT-M, TD BT-I, and NTD BT patients managed in their ward. In case of refusal to provide the required information, telephone or in-person interviews were organized with other specialists in the same facility. We identified 124 treatment centers, 114 of which were successfully surveyed (92% completed the survey). Subsequently we used a web-based questionnaire to ask a geographically stratified sample of 60 treating physicians about general treatment patterns, with a focus on potential drivers of health-care resource utilization. Responding physicians each referenced 3-4 records for patients currently under their care to inform their responses to our survey, and 205 records were referenced in total: 162 TD and 43 NTD patients.Results: In the 114 treatment centers surveyed, a total of 5,748 TD BT patients under regular treatment were reported, plus 1,296 additional patients receiving occasional treatment (NTD BT). Distribution of TD patients was heterogeneous, with the highest prevalence in Sicily, Sardinia, and Puglia. These regions each had > 500 TD patients and hosted in total 3,051 TD patients (Table). National patient volume was highly concentrated with the 7 largest centers managing 1,766 TD patients.Based on the information in 205 patient records, complete blood count, ferritin level, echocardiography, and T2*-weighted MRI were the tests most commonly performed in the preceding 12 months. Of 162 TD patient records reviewed, 83 patients required 1-2 units of red blood cells per month, while 78 patients required ≥ 3 units per month (this information was not captured in 1 patient record). Deferasirox was the most commonly administered chelation treatment in TD patients, prescribed to 109 of 162 patients. Most TD patients (n = 126) had previously had a change of iron chelation treatment; 72 of these switched from deferoxamine to another agent. In-patient hospitalizations were estimated at 9 days/year, 7 days/year, and 4 days/year for TD BT-M, TD BT-I, and NTD BT patients, respectively. Endocrine pathologies were the most commonly reported comorbidity in all groups; 36 patients required medical treatment. Hepatitis C virus infection and hepatic and cardiac complications were also reported.Conclusions: Prevalence of BT is regionally focused and likely to consume significant health-care resources for management of the disease and associated comorbidities. Although the telephone and web surveys used for our project were not designed to be a clinical trial, we were able to assess practices by a number of physicians (n = 60) for patients (n = 205) that were representative of the distribution of BT across Italy. We also screened the overall BT caseload of up to 365 potentially BT-treating centers in the country. Our survey complements recent work to understand the burden of this disease in Italy. [Display omitted] DisclosuresAngelucci:Novartis Oncology: Honoraria, Membership on an entity's Board of Directors or advisory committees; Celgene Corporation: Honoraria, Membership on an entity's Board of Directors or advisory committees. Burrows:Celgene Corporation: Research Funding; IMS Health s.r.l.: Employment. Losi:IMS Health: Employment; Celgene Corporation: Research Funding. Bartiromo:Celgene Corporation: Employment, Equity Ownership. Hu:Celgene Corporation: Employment, Equity Ownership.

DAO-2, a New Software Tool for Multiple Differential Diagnoses with Probability. Application for the Screening of Rare Anemias in Sardinia

The increasing number of laboratory parameters and diagnostic information makes every day more difficult to remember the entire differential Diagnosis list for all of them. The high prevalence or rare anemias in the island of Sardinia (Italy) makes mandatory to screen the general population for the possible presence of hemoglobinopathies. In fact, the prevalence of Beta Thalassemia goes from 9.1 % of the population in the City of Nuoro to 11.7% in the City of Muravera. The prevalence of Alpha Thalassemia genetic mutations is much more frequent, going from 9.1% in the City of Tempio to 39% in the City of Alghero.DAO-2 is a software tool made using C## (C Sharp) and SQL relational databases, that permit to do Multiple Differential Diagnoses that consist in the Differential Diagnosis of more than one symptom at the same time. After, using the probabilistic theory called Bayes Theorem or Rule of Bayes, gives the probability of every possible disease or medical condition.We have checked the utility of DAO-2 as a software tool for the screening of the rare anemias in Sardinia. The Ospedale Pediatrico Microcitemico is a Hospital a Specialized in thalassemia and other rare anemias. We have cheked the utility of DAO-2 in 394 consecutive patients with a known anemia that came to our hospital and also in 195 persons in that we have excluded the presence of anemia or genetic conditions that predispose to a rare anemia (controls). TableDiagnosticnNON BETA (control)195HbH (alfa thalasemia intermedia)129Thalassemia intermedia Splenectomized33Alfa Thalassemia Trait diag.suspected32Beta Thalassemia Trait30Iron Deficiency Anaemia22Thalassemia intermedia (Beta-Thal Interm)18Alfa Thalassemia Heterozygous14Thrombopenia11microdrepanocitosi (Beta-S)8Thalassemia homozygous (young children Intermedia/Major)7Beta Thal Thalassemia major transfused7HbH (Alfa Thalassemia intermedia) transfused6Hereditary Spherocytosis Splenectomized5Blackfan-Diamond Anemia3Dyserithropoietic Anaemia type I (CDA I)3Sickle cell anaemia3Iron Deficiency Anaemia treated3Piruvate-Kinase deficiency3IRIDA iron-refractory iron deficiency anemia3Beta Thalassemia major3Fanconi’s Anaemia2Dyserithropoietic Anaemia type II (CDA II)2Hyporegenerative anemia2Anemia of Newborn2Megaloblastic Anemia1Piruvate-Kinase deficiency Splenectomized1Hemoglobinopaty (Taybe) + α- thalassemia1Hemoglobinopaty hyperunstable (Hb Cagliari)1Hemoglobinopaty Koln1Hemoglobinopaty E (Hb E)1Hemoglobinopaty G (Hb G-Copenaghen)1Hemoglobinopaty J (Hb J-SARDEGNA)1HbH (alfa thalasemia intermedia) Splenectomized1Leucopenia & Neutropenia1Metahemoglobinemia (MET-Hb)1Pyropoikilocytosis1Evans’s Syndrome1Hereditary Spherocytosis28Delta-Beta Thalassemia (Sardegna)1HbH (alfa thalasemia intermedia) + Beta Thalassemia Trait1Total394The use of this new software, called DAO-2 makes possible to predict in the majority of the cases the presence of a rare anemia or a heterozygous non clinical carrier of genetic changes that can provoke a rare anemia. It is necessary to do prospective studies to check the efficiency of this software before to use it in the clinical practice. DisclosuresNo relevant conflicts of interest to declare.

Coexistence of Haemoglobinopathies and Iron Deficiency in the Development of Anemias in the Tribal Population Eastern India

Iron deficiency is the most prevalent nutritional deficiency and the most common cause of anemia worldwide. Several hemoglobin disorders have also been found to modify the morbidity and mortality of a population. It has been established that coexistence of a and â thalassaemia with abnormal HbS and E may modify the level of haemoglobin in blood. Tribal communities in India constitute the largest tribal population in the world. The present study is the first to report on the interaction of Haemoglobinop athies and Iron deficiency in the development anemias in the tribal population Eastern India. Methods: A total of 450 unrelated subjects of some tribal groups of two states of Eastern India were randomly selected for the study. Blood was collected from the subjects after obtaining consents. Prevalence of anemia was screened followed by tests for hemoglobin disorders and iron study of selected cases. Beta thalassaemia mutations were screened in selected cases. Age and sex matched control groups were chosen for the study. HbE was the most common haemoglobinopathy among the studied groups of the North- east. Prevalence of Beta thalassaemia (1.6%) is almost nil in the tribal groups. HbE in homozygous states, sometimes in heterozygous states induced anameia among the Mishings, Deoris and Ahoms, but not in Sonowals. Iron deficiency anemia was pronounced among the females of Mishings and Sonowals. Incidence of hemoglobin disorders is very low among the Santhal (1.12%) and this group was the victim of iron deficiency anemias.

Prevalence of Beta-thalassemia and Sickle Cell Anemia Trait in Premarital Screening in Konya Urban Area, Turkey: Erratum

Prevalence of Beta-thalassemia and Sickle Cell Anemia Trait in Premarital Screening in Konya Urban Area, Turkey: Erratum

Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.

beta-Thalassemia is the most prevalent single-gene disorder. Since no viable forms of treatment are available, the best course is prevention through prenatal diagnosis. In the present study, the prevalence of beta-thalassemia was extensively investigated in the South Indian population, especially from the state of Andhra Pradesh. Screening for causal mutations was carried out on genomic DNA isolated from patient blood samples by using the routine reverse dot blot (RDB) and amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) techniques. DNA sequencing was performed wherever necessary. Among the nine mutations identified, four, including IVS-1-5 (G-C) (IVS1+5G>T), codon 41/42 (-TTCT) (c.124_127delTTCT), codon 15 (G-A) (c.47G>A), and HbS (sickle mutation) (c.20A>T) mutations, accounted for about 98% of the total positive cases. Two mutations viz. codon 8/9 (+G) (c.27_28insG) and HbE (codon 26 G-A) (c.79G>A) exhibited a very low frequency of occurrence, whereas the IVS-1-1 (G-T) (IVS1+1G>T) and the 619 bp deletion (c.366_494del) mutations were absent. We also identified certain rare mutations during the diagnostic evaluation. Gene sequencing confirmed the codon 30 (G-C) (c.92G>C) mutation and the rare codon 5 (-CT) (c.17_18delCT) and IVS-II-837 (T-G) (IVSII-14T>G) mutations. This is the first report of the IVS II 837 mutation in the Indian population. We also report a novel diagnostic application during RDB-based screening for the detection of the (c.92G>C) mutations. Such a comprehensive mutation screening is essential for prenatal diagnosis of beta-thalassemia and control of this highly prevalent monogenic disorder in the Indian population.

Hemoglobin A2 levels in malaria patients.

The influence of malaria on the hemoglobin A2 (Hb A2) level in humans was studied in a series of 94 imported cases in Belgium. Sixty-nine of the patients were natives of Western European countries, their results are reported separately since their origin and the results of their hematological examination made it unlikely that they carried the beta-thalassemia trait. The Hb A2 level of the 94 malaria patients (mean 2.76%; S.D. 0.51%) was not statistically different from that found in 60 healthy controls (mean 2.70%; S.D. 0.38%; P greater than 40). Likewise the level of the 65 Western European patients was not statistically different from that of the same controls (mean 2.81%; S.D. 0.42%; P greater than 0.10). There was also no significant difference between the level in patients infected with a particular species of Plasmodium and that of the controls. No correlation was found between the Hb A2 level and the intensity of the parasitemia or the concentration of total hemoglobin in the blood. These results are discussed in comparison with the divergent ones obtained by others and it is suggested that malaria has no significant influence on the results of surveys for the prevalence of beta-thalassemia in regions of malaria endemicity.