scholarly journals Phenotyping of Rh, Kell, Duffy and Kidd blood group antigens among non-tribal and tribal population of South Gujarat and its implication in preventing alloimmunisations in multitransfused patients.

2018 ◽  
Vol 10 ◽  
pp. e2018070
Author(s):  
Avani Shah ◽  
Kanjaksha Ghosh ◽  
Preeti Sharma ◽  
Kanchan Mishra

Background:Sickle cell anaemia is common amongst Tribal population of south Gujrat. Alloimmunisation in multitransfused sickle cell anaemia patient is 10 times commoner in these patients than beta Thalassemia  major  patients from regular blood donor communities. Study design & methodology: Red cell antigen typing of Rh (D,C,E,c,e ), Kell (K, k), Duffy (Fya, Fyb) and Kidd (Jka, Jkb) were carried out in 222 regular voluntary blood donors who belonged to non-tribal population and in 113 samples of tribal population using conventional antisera.  Results: Rh D antigen frequency was 96.6% in non-tribal and 96.5% in tribal population. 2.4% of K antigen was found in non-tribal population whereas the antigen was absent in tribal population  .Amongst Rh antigens, e was the most common (100%) followed by D, C (91.0%, 85.8%), c (50.5%, 44.2%) and E (16.5%, 17.0%) with DCe/DCe (R1R1, 48.0%, 55.8%) being the most common phenotype in both the groups. In Kell antigens  k antigen was 100% ,Kidd and Duffy antigens  Jk (a+b-) (39.2%, 46.9%) and Fy (a+b-) (64.2%, 52.2%) were the most common phenotypes in non-tribal and tribal population respectively.  Conclusion: There is significant difference in Duffy , Kidd and Kell (k) antigen distribution between non tribal and tribal population . Total absence of Kell antigen in tribalsalong with. E antigen in a significant portion of blood donors and its absence in large number of tribals also increase the risk of alloimmunisation.   

Author(s):  
Zari Tahannejad Asadi ◽  
Reza Yarahmadi ◽  
Najmaldin Saki ◽  
Mohammad Taha Jalali ◽  
Ali Amin Asnafi ◽  
...  

AbstractBackgroundBeta (β)–thalassemia major is a genetic disorder with anemia and an increased level of erythropoietin by Janus kinase/signal transducers and activators of transcription (JAK/STAT) signaling pathway. JAK plays an important role in cell signaling, and the common mutation in the JAK2 gene in myeloid disorders is called JAK2V617F.MethodsA total of 75 patients with beta (β)-thalassemia major patients, including 34 males (45%) and 41 females (55%), were enrolled in this study. The presence of the JAK2V617F mutation was assessed using the amplification-refractory mutation–polymerase chain reaction (ARMS-PCR) technique.ResultsAmong the 75 patients, 14 patients (19%) tested positive and 61 patients (81%) tested negative for JAK2V617F mutation. We observed no statistically significant difference in sex, age, genotype, and JAK2V617F mutation among patients (P> .05). However, a significant difference between blood-transfusion frequency and JAK2V617F mutation was observed (P <.05).ConclusionDue to the low prevalence of JAK2V617F mutation in thalassemia, using a larger population of the patients to investigate this mutation in ineffective erythropoiesis can be useful.


2021 ◽  
Vol 9 (2) ◽  
Author(s):  
Uni Gamayani ◽  
Titin Junaidi ◽  
Nushrotul Lailiyya ◽  
Nur Suryawan ◽  
Nanan Sekarwana

Vitamin B9 (folic acid) and B12 (cobalamin) are essential vitamins that play roles in the process of hematopoiesis and maintaining the function of peripheral nerves. Therefore, these deficiencies may create a risk for peripheral neuropathy in beta-thalassemia major patients. The purpose of this study is to determine the relationship between vitamin B9 level, vitamin B12 level, and peripheral neuropathy in beta-thalassemia major children. It was an observational analytical study with a case-control design has been conducted at Dr. Hasan Sadikin General Hospital Bandung, Indonesia, in May–July 2019. There were 47 beta-thalassemia major children with peripheral neuropathy (case) and 41 healthy children (control). All subjects completed a general demographic questionnaire, underwent neurological examination, and were tested for vitamin B9 and B12 serum levels. Data were then analyzed using the unpaired t test to compare the vitamin levels between both groups and Spearman’s rank correlation test to investigate the correlation between vitamin levels and the number of affected nerves in the case group. Comparison of folic acid levels in the case group (21.52±6.22 ng/mL) and the control group (23.81±7.51 ng/mL) showed no significant difference (p=0.19). In contrast, cobalamin in the case group (288.57±168.61 ng/mL) and the control group (385.95±197.48 ng/mL) showed a significant difference (p=0.01). In addition, there was a moderate correlation (p=0.004, r=0.41) between folic acid level and the number of motoric nerves affected in the case group. In conclusion, cobalamin level correlates with peripheral neuropathy in beta-thalassemia major patients, and folic acid level correlates with the number of affected nerves, especially motoric nerves. HUBUNGAN ANTARA VITAMIN B9 (ASAM FOLAT), VITAMIN B12 (KOBALAMIN), DAN NEUROPATI PERIFER PADA ANAK DENGAN TALASEMIA BETA MAYORVitamin B9 (asam folat) dan B12 (kobalamin) merupakan vitamin esensial yang berperan dalam proses hematopoiesis dan menjaga fungsi saraf tepi. Defisiensi vitamin ini dapat menimbulkan risiko neuropati perifer pada pasien talasemia beta mayor. Tujuan penelitian ini mengetahui hubungan antara kadar vitamin B9, vitamin B12, dan neuropati perifer pada anak talasemia beta mayor. Metode penelitian ini adalah analitik observasional dengan rancangan studi kasus kontrol yang dilakukan di RSUP Dr. Hasan Sadikin Bandung, Indonesia pada Mei–Juli 2019. Terdapat 47 anak talasemia beta mayor dengan neuropati perifer (kelompok kasus) dan 41 anak sehat (kelompok kontrol). Seluruh subjek penelitian mengisi kuesioner demografi umum, menjalani pemeriksaan fisis neurologis, serta dilakukan tes kadar vitamin B9 dan B12 serum. Uji t test tidak berpasangan digunakan untuk membandingkan kadar vitamin pada kedua kelompok dan uji korelasi Spearman untuk membandingkan kadar kedua vitamin tersebut dengan jumlah saraf yang terkena pada kelompok kasus. Perbandingan kadar asam folat kelompok kasus (21,52±6,22 ng/mL) dan kelompok kontrol (23,81±7,51 ng/mL) menunjukkan perbedaan yang tidak bermakna (p=0,19), sedangkan perbandingan kadar kobalamin kelompok kasus (288,57±168,61 ng/mL) dan kelompok kontrol (385,95±197,48 ng/mL) menunjukkan perbedaan yang bermakna (p=0,01). Selain itu, terdapat korelasi sedang (p=0,004; r=0,41) antara kadar asam folat dam jumlah saraf motorik yang terkena pada kelompok kasus. Kesimpulan, kadar kobalamin berhubungan dengan neuropati perifer pada penderita talasemia beta mayor dan kadar asam folat berhubungan dengan jumlah saraf yang terkena, terutama saraf motorik.


Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 3086-3086
Author(s):  
Alessia Pepe ◽  
Luigi Barbuto ◽  
Laura Pistoia ◽  
Vincenzo Positano ◽  
Francesco Massei ◽  
...  

Abstract Background: Chronically transfused homozygous sickle cell disease (HbSS) patients were shown to have higher kidney iron deposition than thalassemia major patients, not associated to total body iron and mainly caused by chronic hemolysis. Kidney iron deposition has not been explored in sickle beta-thalassemia (Sβ-thal), resulting from the inheritance of both sickle cell and beta-thalssemia genes. Aim: This multi center study aimed to study frequency, pattern, and associations of renal iron accumulation in sickle beta-thalassemia. Methods: Thirty-three Sβ-thal patients (36.49±14.72 years; 13 females) consecutively enrolled in the Extension-Myocardial Iron Overload in Thalassemia (E-MIOT) network were considered. Moreover, 20 healthy subjects, 14 HbSS patients and 71 thalassemia major (TM) patients were included as comparison groups. Hepatic, cardiac, pancreatic, and renal iron overload was quantified by the gradient-echo T2* technique. In each kidney T2* was measured in anterior, posterolateral, and posteromedial parenchymal regions and the global T2* value was calculated as the average of the two kidneys T2* values. Results. Global renal T2* were significantly higher in healthy subjects versus both Sβ-thal patients (49.68±10.09 ms vs 43.19±8.07 ms; P=0.013) and HbSS patients (49.68±10.09 ms vs 26.21±17.07 ms; P&lt;0.0001). Sβ-thal patients showed comparable age, sex, frequency of regular transfusion, hematochemical parameters, and hepatic, cardiac and pancreatic iron load than HbSS patients, but they had a significant lower frequency of renal iron overload (global renal T2*&lt;31 ms) (9.1% vs 57.1%; P=0.001). Regularly transfused patients (16 Sβ-thal and 10 HbSS) were compared with TM patients, homogeneous for age and sex, but TM started regular transfusions significantly earlier and they were more frequently chelated. No significant difference was detected in terms of hepatic and cardiac iron levels, but TM patients had significantly lower pancreas T2* values than both the other two groups and significantly higher global renal T2* values than HbSS patients (42.87±9.43 ms vs 24.39±15.74 ms; P=0.001). In Sβ-thal patients no significant difference was detected between T2* values in left and right kidneys, and global renal T2* values were not associated to age, gender, splenectomy, and they were comparable between regularly transfused and non transfused patients. No correlation was detected between renal T2* values and serum ferritin levels or iron load in the other organs. Global renal T2* values were not associated with serum creatinine levels but showed a significant inverse correlation with serum lactate dehydrogenase (Figure 1). Conclusion. Renal iron deposition is not common in Sβ-thal patients, with a prevalence significantly lower compared to that of HbSS patients, but with a similar underlying mechanism due to the chronic hemolysis. Figure 1 Figure 1. Disclosures Pepe: Bayer S.p.A.: Other: no profit support; Chiesi Farmaceutici S.p.A: Other: no profit support. Maggio: Novartis: Membership on an entity's Board of Directors or advisory committees; Celgene Corp: Membership on an entity's Board of Directors or advisory committees; Bluebird Bio: Membership on an entity's Board of Directors or advisory committees.


2021 ◽  
Vol 15 (2) ◽  
Author(s):  
Parastoo Namdar ◽  
Atena Shiva ◽  
Tahura Etezadi ◽  
Jamshid Yazdani Charati ◽  
Hossein Karami ◽  
...  

Background: Iran lies in the world's thalassemia belt; accordingly, the beta‐thalassemia gene is carried by 4% of the Iranian population. Due to the dearth of research and literature available on the prevalence of malocclusions in the Iranian population with beta-thalassemia major, this study was conducted to determine the prevalence and severity of facial abnormalities among patients who were referred to Bu-Ali Sina Hospital, Sari, Iran. Methods: This descriptive cross-sectional study was conducted on 200 patients with thalassemia major who were referred to the care unit of Bu-Ali Sina teaching and therapeutic Hospital, Sari, Iran, in 2018. The patients were then visited by a trained dentist who had been given the necessary theoretical and practical training. Malocclusion was classified based on Angle's classification. Spacing, overcrowding, overjet, and overbite were measured, and the distances were recorded based on a checklist. Results: The prevalence of malocclusions obtained was 87.5%, which included malocclusions of Class I (34%), Class II (31%), and Classes III (22%) amongst patients. There was no significant relationship between the type of malocclusion and gender (P = 0.77). Moreover, no significant difference was observed among patients with thalassemia major and different classes of malocclusions in terms of age both in males (P = 0.49) and females (P = 0.58). Conclusions: Malocclusions are common among adolescents and adults with thalassemia, which is not associated with age or gender. Therefore, patients should be regularly visited and followed up by a dentist to manage and control their dental problems. In addition, effective and preventive measures, as well as health education should be seriously considered in these patients.


Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4377-4377
Author(s):  
Irma O. Szymanski

Abstract Abstract 4377 In men blood group incompatibilities between a donor and blood transfusion recipient may stimulate RBC antibody production, whereas in women both transfusion and pregnancies play a role. Immunogenicities of various RBC antigens correlate with their ability to induce a specific antibody response. These parameters were calculated on data obtained previously in 711 patients found to be immunized in pre-transfusion tests using the method of Giblett (Transfusion 1961), and corrected for the fraction of antibody decline in time by the method of Torney and Stack (Blood 2009). Immunogenicities of RBC antigens expressed as a fraction of that of the K antigen (Potency = 1) are shown in columns IV & VII (method of Giblett) and in V & VIII (method of Torney & Stack) of the following table. I Antigen X II Anti-X, N III Anti-X, Females, N IV Females Potency vs. K V Females, Corrected Potency VI Males, Anti-X, N VII Males, Potency Vs. K VIII Males, Corrected Potency C 71 51 0.227 0.156 20 0.108 0.075 c 37 27 0.164 0.141 10 0.074 0.063 E 220 117 0.554 0.565 103 0.594 0.606 e 9 5 0.244 4 0.238 Fya 44 28 0.122 0.086 16 0.085 0.060 Fyb 3 1 0.007 0.004 2 0.017 0.012 Jka 60 41 0.225 1.083 19 0.127 0.611 Jkb 5 3 0.015 2 0.012 K 153 84 1 1 69 1 1 k 1 1 0.488 0 S 18 13 0.051 0.027 5 0.024 0.013 s 1 0 1 M 21 10 0.056 0.069 11 0.075 0.093 In males the corrected potencies of E and Jka were about 60% of that of K, but in females the corrected potencies of Jka and K were equal. The antigens C, c, Fya,Jka and S had higher corrected potencies in females than in males, probably reflecting the additional role of pregnancies in immunization. Note the big difference in antibody response between allelic non-Rh antigens (e.g. Jka vs. Jkb). Immunogenicity of the Rh D antigen was not calculated since Rh negative patients receive Rh negative blood and Rh negative pregnant women are given Rh immune prophylaxis. However, in this study 29.6 % of the patients were Rh negative. Over 70% of the susceptible patients had been immunized to the Rh D. In conclusion, RBC antibodies interfere with the benefits of RBC transfusions and may also cause severe adverse effects. Introduction of molecular methods into Blood Bank setting could eventually minimize exposure and immunization of transfusion recipients to incompatible RBC antigens. Information about immunogenicity of various blood group antigens may point out those antigens that should not be given to patients who are lacking them. It is also critical to understand why immunization to the D antigen is still prevalent in order to pave the way to future multiple antigen matching. Disclosures: No relevant conflicts of interest to declare.


Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 5306-5306
Author(s):  
Efthimia Vlachaki ◽  
Vasileios Perifanis ◽  
Antonia Kondou ◽  
Nikolaos Neokleous ◽  
Aikaterini Teli ◽  
...  

Abstract Abstract 5306 Serum uric acid of patients with beta-thalassemia major (b-MA), despite the hyperuricosuria observed in these patients, is usually in the upper normal levels or increased due to excessive catabolism of the red blood cells (ineffective erythropoiesis). Deferasirox a new oral iron chelator with potential nephrotoxicity is recently used as iron overload treatment in patients with b-MA. Aim: Aim of the study is to investigate the effect of deferasirox on uric acid levels of patients with homozygous b-MA. Material-Method: 53 patients were enrolled to the present study with b-MA major, (aged 22.4 ± 14.7 years, range 4–12 years) 36 adults and 17 children, 32 females and 21 male. All the patients were transfusion-dependent with pretransfusional haemoglobin 9gr/dl and treated with iron chelation. The comparison was made between two different time points' measurements of uric acid and ferritin, at the beginning before Deferasirox, and one year later. The blood was taken from the patients early at mornings before the transfusion. Also uric acid was measured in 24 hour urine of patients under deferasirox, or other iron chelation therapy or after weekly discontinuation of deferasirox. Patients taken allopurinol or thiazide or with abnormal kidney function were excluded. Results: There is statistically significant difference (p< 0.001) between the mean annual value of serum uric acid (before 5.2 ± 1.3mg/dl) and ferritin (before 1653,4 ± 1026,3 ng/dl) before and after the start of deferasirox (uric acid after 4.2 ± 1.3 mg/dl and ferritin after 1529,07 ± 1137,44 ng/dl). Also, statistically significant positive correlation between the levels of serum uric acid and ferritin was found during the treatment with deferasirox. However, comparing the uric acid in urine of patients, it was not reported any statistically significant difference between treatment with deferasirox (859,75 ± 122), other iron chelators or without iron chelation for one week (844,32 ± 146). Conclusion: The mechanism of uric acid reduction in patients with b-MA major treated with deferasirox is not clear. However, it does not seem to be associated with excess of excretion by urine. The positive correlation between uric acid level and ferritin, allow us to consider uric acid as a predictor factor of the response to deferasirox therapy. Disclosures: Vlachaki: Novartis Hellas S.A.C.I.: Research Funding. Oikonomou:Novartis Hellas S.A.C.I.: Research Funding.


2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Divjot Singh Lamba ◽  
Ravneet Kaur ◽  
Sabita Basu

Background. Racial differences in blood group antigen distribution are common and may result in striking and interesting findings. These differences in blood group antigen distribution are important due to their influence on the clinical practice of transfusion medicine.Study Design and Methods. This is a prospective study, involving 1000 healthy regular repeat voluntary blood donors associated with the department. The clinically significant minor blood group antigens of these donors were studied.Results. Out of 1000 healthy regular repeat voluntary blood donors, 93% were D positive and 2.8% were K positive. Amongst the Rh antigens, e was the most common (99%), followed by D (93%), C (85.1%), c (62.3%), and E (21.5%). Within the MNS blood group system, antigen frequency was M (88%), N (57.5%), S (57.8%), and s (87.5%). Within the Duffy blood group system, antigen frequency wasFya(87.3%) andFyb(58.3%).Conclusions. This data base will help us to prevent alloimmunisation in young females, pregnant women, and patients who are expected to require repeated transfusions in life by providing them with antigen matched blood. Antigen negative blood can also be made available without delay to already alloimmunized multitransfused patients.


2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Tahereh Rostami ◽  
Amir Kasaeian ◽  
Nasrollah Maleki ◽  
Mohsen Nikbakht ◽  
Azadeh Kiumarsi ◽  
...  

Abstract Background Hepatic fibrosis is a common complication in transfusion-dependent thalassemia patients. Data on the co-transplantation of mesenchymal stem cells (MSCs) with hematopoietic stem cells (HSCs) in beta-thalassemia major patients are scarce. Therefore, we aimed to evaluate the effect of co-transplantation of bone marrow-derived MSC with HSCs on the liver fibrosis alleviation and transplant outcomes in class III beta-thalassemia major. Methods Between April 1998 and January 2017, a total of 224 consecutive patients with class III beta-thalassemia major underwent allogeneic HSCT in the Research Institute for Oncology, Hematology and Cell Therapy, Tehran University of Medical Sciences, Tehran, Iran. To assess liver fibrotic changes after transplantation, 47 patients participated in the MSC plus HSC group and 30 patients in the HSC only group at the end of the follow-up period. All patients underwent laboratory tests, especially serum ferritin and liver function testing, hepatic T2* MRI, liver biopsy, and FibroScan before and 2 years after transplantation. Kaplan-Meier curves were derived to determine survival and were compared using the log-rank test. Repeated-measure, mixed-effect linear regression models were used to examine the changes in liver fibrosis over time. Results The 10-year OS rate was 71.84% in the mesenchymal group and 61.89% in the non-mesenchymal group (P value = 0.294), while the 10-year TFS rate was 63.64% in the mesenchymal group and 52.78% in the non-mesenchymal group (P value = 0.285). No significant difference was observed in the 10-year NRM, rejection rate, ANC engraftment, platelet engraftment, acute GvHD, and chronic GvHD between the two groups. In addition, the results of repeated-measure, mixed-effect linear regression models showed that none of the variables determining hepatic fibrosis had a significant difference between patients receiving MSCs and patients who did not receive MSCs. Conclusions Based on the results of this study, a single infusion of MSCs at the time of HSCT to patients with class III beta-thalassemia major could not significantly improve the liver fibrosis alleviation and transplantation outcomes, including OS, TFS, TRM, rejection rate, ANC engraftment, platelet engraftment, acute GvHD, and chronic GvHD.


Author(s):  
Irm Yasmeen ◽  
Meena Sidhu ◽  
Ibrar Ahmed

Background: Knowledge about the frequency of red cell antigen phenotype is very important for the creation of donor data bank and to minimize the risk of alloimmunization. This requires the determination of immunological characteristics of blood products and blood recipients by performing phenotyping of clinically significant blood group antigens. The aims and objectives were to study the distribution of Rh and Kell (K) antigen among blood donors of different ethnic groups in a tertiary care hospital.Methods: This was prospective observational cross sectional one-point analysis study which was carried out over a period of one year with effect from November 2015 to October 2016 in the Postgraduate Department of Immunohematology and Blood Transfusion Medicine, Shri Maharaja Gulab Singh (SMGS) Hospital, Government Medical College, Jammu and Kashmir, India. It comprised of voluntary and replacement donors and categorized into different ethnic groups i.e Dogras, Gujjar Muslims, Non-Gujjar Muslims, Kashmiri Pandits, Sikhs and Christian. Donors selection criteria was as per Drug and Cosmetic Act.Results: A total of 500 (Five hundred) blood samples from the donors of all blood groups were typed for the presence of Rh (D, C, E, c, e) and Kell (K) antigens. Out of these 500 samples, 420 were antigen typed by conventional tube technique and 80 samples were typed by column agglutination technique using glass beads. As per ethnicity, maximum donors were Dogras (74%) followed by Non-Gujjar Muslims (9.4%), Gujjar Muslims (9%), Sikhs (5.6%), Kashmiri Pandits (1.4%) and Christians were the least in frequency (0.6%). On phenotyping for Rh and Kell antigens ‘e’ antigen have the ubiquitous distribution and was found to have the highest frequency 486 (97.2%) followed by ‘D’ antigen 472 (94.4%), ‘C’ antigen 426 (85.2%), ‘c’ antigen 320 (64.0%) and ‘E’ antigen 103 (20.6%). Overall frequency of Kell (K) antigen was 2.6%.Conclusions: Knowledge of red cell antigen phenotype frequencies in a population with different ethnic groups can help in creating donor data bank and database for the distribution of blood groups for preparing inhouse cell panels and providing proper antigen compatible blood for patients with multiple alloantibodies and also reduce the risk of RBC antigen alloimmunization along with their complications.


Author(s):  
Afshin Fathi ◽  
Majid Vafaie ◽  
Firouz Amani ◽  
Nadia Mohebbi

Background: Beta thalassemia is one of the inherited blood diseases in which the production of specific chains in hemoglobin decreases. Esfarlal is a shaltor which is used in these patients as a single dose per day. Since it is prescribed orally, it is easier to tolerate the drug and control the serum iron level of the patient. The aim of this study was to evaluate the efficacy of Osveral in reducing ferritin levels in patients with thalassemia major.Methods: This quasi-experimental study was performed on 48 patients with thalassemia major who referred to Bu-Ali hospital for receiving blood. At the beginning of the study, the required data were collected along with patients' tests including hemoglobin, ferritin, TSH, T4, CBC diff, BUN AST, ALT, BS and creatinine CBC diff. The Osveral drug was prescribed and the patients were evaluated monthly for up to 6 months on the basis of complications. In the first three months after the start of the drug, the serum ferritin level was measured, the dose was adjusted and 6 months after late, the previous tests were again requested, and the auditory and visual examinations were performed, and the information entered the checklist. Data were analyzed using SPSS statistical software.Results: Among all patients, 27 (56.2%) were male and the rest were women with a mean age of 22.22 ± 8.77 years. The results showed that during one year of study, hemoglobin level increased and ferritin level decreased significantly, and other parameters didn’t show significant difference. Nausea and vomiting were the most common complications among patients, which was higher after Osveral than before receiving Osveral.Conclusions: Results showed that Osveral is effective in reducing the level of ferritin in patients with thalassemia major, but control of hematuria is recommended when using this drug.


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