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"Latar belakang: Thalassemia merupakan kelainan hemoglobinopati yang cukup banyak di Indonesia. Terapi utama thalassemia mayor adalah transfusi seumur hidup. Transfusi berulang memiliki efek samping. Salah satunya adalah terbentuknya aloantibodi sel darah merah. Prevalens dan faktor-faktor yang memengaruhi aloantibodi pada pasien thalassemia masih belum ada di Indonesia. Uji Coombs sebagai standar diagnosis merupakan pemeriksaan yang mahal dan hanya tersedia di pusat tertentu. Metode lain yang lebih mudah diperlukan untuk memprediksi terbentuknya aloantibodi tersebut. Tujuan: Untuk mengetahui prevalens aloantibodi sel darah merah di populasi Indonesia dan mendapatkan faktor-faktor yang memengaruhinya. Membuat sistem skoring untuk memprediksikan probabilitas terbentuknya aloantibodi sel darah merah berdasarkan faktor-faktor tersebut. Metode: Analisis terhadap 162 rekam medis subjek yang telah dilakukan uji Coombs di Pusat Thalassemia Jakarta pada tahan 2005-2013. Hasil: Dari 162 subjek didapatkan 31 (19%) subjek memiliki aloantibodi dan 4 (2,4%) subjek menderita AIHA. Jenis aloantibodi terbanyak yang terdeteksi adalah anti-M (29%). Faktor-faktor yang memengaruhi terbentuknya aloantibodi adalah tingginya volume transfusi, jarak antar transfusi, lama transfusi, kadar leukosit dan pajanan PRC biasa. Berdasarkan faktor-faktor risiko tersebut, sistem skoring didisain untuk memprediksi kemungkinan terbentuknya aloantibodi. Kesimpulan: Prevalens aloantibodi pada pasien thalassemia di Indonesia cukup tinggi. Pemberian PRC leukodeplesi pelu direkomendasikan pada pasien dengan transfusi berulang. Prediksi terbentuknya aloantibodi dapat dilakukan melalui sistem skoring terutama di tempat yang tidak tersedia uji Coombs.

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Background: Thalassemia major is a common genetic disease in Indonesia. The principal treatment of thalassemia major is lifelong blood transfusion, which is frequently complicated by alloantibody. Limited data are available on the frequency of RBC alloantibody and factors influencing in major β-thalassemia patients. Coombs test, as a standard tool to diagnose alloantibody, is only available on particular Red Cross Centre. Therefore, it is necessary to find another tool to predict the probability of alloantibody formation.

Aim: To investigate the prevalence of RBC alloantibody among thalassemia major patients in Thalassemia Centre Jakarta. To describe factors influencing RBC alloantibody production and develop scoring system to predict its probability.

Methods: We analyzed the clinical and transfusion records of 162 thalassemia major patients who have been examined for Coombs test. All of the patients were registered in Thalassemia Center, Cipto Mangunkusumo hospital from 2005 until 2013.

Results: Of the 162 subjects, 31 (19%) developed RBC alloantibody and four patients (2,4%) developed autoimmune hemolytic anemia. The most common alloantibody was anti-M (29%).Several factors were found to contribute to high alloantibody rate in this study, including high volume of transfusion, duration of transfusion, white blood count level, transfusion interval, and PRC exposure. From those factors, scoring system has been developed to predict alloantibody formation in thalassemia patients.

Conclusion: We concluded that there is a high rate of RBC alloantibody in major thalassemia patients in our center. We also suggest that leukocyte-poor PRC should be given to all patients with multiple transfusions. In remote area where Coombs test is not available, scoring system can be used to predict the probability of alloantibody formation."

"ABSTRAKLatar belakang. Pasien yang mendapatkan trasfusi darah berulang berisikomempunyai aloantibodi terhadap antigen yang ada pada permukaan sel darahmerah. Aloantibodi tersebut dapat menyebabkan terjadinya reaksi transfusi berupa hemolisis sel darah merah pada transfusi darah berikutnya. Untuk mencegah terjadinya hemolisis sel darah merah maka pasien talasemia sebaiknya mendapatkan darah yang sesuai dengan antigen sel darah merah yang dimilikinya. Namun hal ini belum dimungkinkan karena keterbatasan pemeriksaan rutin pretransfusi yang dilakukan untuk setiap pasien talasemia yang mendapatkan transfusi darah berulang.Metode penelitian. Delapan puluh delapan sampel pasien talasemia yangmendapat transfusi darah berulang dilakukan skrining antibodi sel darah merahdengan metode Indirect Coomb's Test (ICT) dan dilanjutkan dengan identifikasiantibodi. Sampel yang terdeteksi mempunyai antibodi dikonfirmasi denganpemeriksaan fenotyping dan genotyping untuk melihat jenis antigen yang ada di permukaan sel merah.Hasil. Dari hasil skrining antibodi terdeteksi adanya aloantibodi pada tujuh dari88 sampel. Dari delapan sampel yang diidentifikasi terdapat tiga sampelmempunyai anti E (47%), empat (57 %) sampel tidak dapat disimpulkan jenisantibodi apa yang terdapat dalam sampel.Simpulan. Pasien talasemia yang memiliki aloantibodi pada sampel darahnyamemiliki genotype RHCE*Ce dan sesuai dengan hasil fenotyping. Dapatdisimpulkan bahwa antibodi pada pasien merupakan aloantibodi. Pada penelitian ini didapatkan persentase aloantibodi pada pasien talasemia sebanyak tujuh (8%) dari total 88 sampel (100 %). Dengan dilakukannya skrining antibodi diharapkan dapat mengurangi risiko terbentuknya aloantibodi dengan memberikan darah donor yang sesuai dengan antibodi yang dimiliki pasien sehingga tidak terjadi hemolisis.

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ABSTRACTBackground. Patients who receive repeated blood trasfusi alloantibody riskhaving the antigen on the surface of red blood cells. Alloantibody can causetransfusion reactions in the form of a red blood cell hemolysis on next bloodtransfusions. To prevent the occurrence of the red blood cell hemolysis inthalassemia patients should receive blood that best match the red blood cellantigen has. But this was not possible due to the limitations of routine pretransfusion examination performed for every patient with thalassemia who receive repeated blood transfusions.Research methods. Eighty-eight samples thalassemia patients receiving repeated blood transfusions carried red cell antibody screening method Indirect Coomb's Test (ICT) and continued with the identification of antibodies. Samples were detected with antibodies was confirmed by examination fenotyping and genotyping to see what kind of a cell surface antigen that is red.Results. From the results of antibody screening detected seven out of 88 samples contained alloantibody. Of the eight samples has identified three samples contained anti-E (47%), four (57%) samples can not be inferred what kind of antibodies contained in the sample.Conclusions. Patients with thalassemia who have alloantibody on blood samples have genotype RHCE * Ce and in accordance with the results of fenotyping. It can be concluded that the antibodies in patients is alloantibody. In this study, the percentage of patients with thalassemia alloantibody seven (8%) of the total 88 samples (100%). The effect of antibody screening is expected to reduce the risk of developing alloantibody by providing appropriate donor blood with antibodies that owned the patient so there is no hemolysis."

"ABSTRAKLatar belakang. Pada penderita thalassemia yang telah lama mendapat transfusi, nilai hemoglobin pasca transfusi tidak bertahan sesuai dengan yang diharapkan. Telah dilaporkan mengenai terbentuknya aloantibodi dan autoantibodi pada penderita thalassemia, yang kemungkinan menyebabkan hemoglobin tidak bertahan pasca transfusi.Tujuan. Penelitian ini bertujuan untuk mencari faktor-faktor yang berhubungan dengan kegagalan mempertahankan hemoglobin pasca transfusi pada penderita thalassemia, terkait dengan terbentuknya aloantibodi dan autoantibodi terhadap eritrosit.Metodologi. Studi potong lintang di poliklinik Hematologi Onkologi Medik IPD RSCM bulan Juli-September 2012 pada penderita thalassemia dewasa yang tergantung transfusi, tanpa penyakit autoimun lain. Dilakukan pemeriksaan sampel darah dengan teknik column gel aglutination untuk melihat adanya aloantibodi dan autoantibodi. Sebelas sel panel reagen digunakan untuk mendeteksi dan mengidentifikasi aloantibodi. Aloantibodi dan autoantibodi positif didefinisikan sebagai pemeriksaan IAT dan DAT yang positif. Dilakukan analisis bivariat antara aloantibodi dan autoantibodi dengan jenis kelamin, jenis rhesus, kadar feritin, jenis kelasi besi, dan aloantibodi.Hasil. Dari 88 subjek, didapatkan 37,5% subjek nilai hemoglobin pasca transfusi tidak bertahan seperti yang diharapkan. Dari 33 subjek tersebut didapatkan aloantibodi dan autoantibodi positif masing-masing 78,6% dan 72,7%. Dari 24 pasien dengan autoantibodi didapatkan 25% dengan derajat hemolitik yang secara klinis bermakna. Aloantibodi positif berhubungan dengan terbentuknya autoantibodi (p < 0,000). Aloantibodi positif [odss ratio (OR) = 26,32; p < 0,000), autoantibodi positif (OR = 11,99; p < 0,000), dan feritin > 3000 ng/ml (OR = 6,36; p < 0,042) berhubungan dengan kegagalan mempertahankan hemoglobin pasca transfusi.Simpulan. Proporsi hemoglobin pasca transfusi tidak bertahan sesuai dengan yang diharapkan pada penderita thalassemia dewasa sebesar 37,5%. Proporsi terbentuknya aloantibodi dan autoantibodi pada kelompok tersebut sebesar 78,6% dan 72,7%. Faktor yang berhubungan dengan kegagalan mempertahankan hemoglobin pasca transfusi adalah aloantibodi positif, autoantibodi positif, dan feritin > 3000 ng/ml. Aloantibodi positif berhubungan dengan terbentuknya autoantibodi.

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ABSTRACTBackground. In transfusion dependent thalassemia patients who has got repeated transfusion for a period of time, the haemoglobin level after transfusion could not be maintained appropriately to be expected. The production of erythroyte alloantibody and autoantibody in transfusion dependent thalassemia patients has been reported before. These antibodies were probable related to the failure on maintaning haemoglobin level after transfusion.Objective. To find related factors of failure on maitaining haemoglobin level after transfusion in adult transfusion dependent thalassemia patients related to erythroyte alloantibody and autoantibody production.Material and Methods. Cross sectional study of adult transfusion dependent thalassemia patient without others autoimune disease at Haematology and Medical Oncology outpatient clinic in Cipto Mangunkusumo hospital from July to September 2012 was done. The specimen was subjected to erythroyte alloantibody and autoantibody evaluation by column gel agglutination technique. Eleven cell reagent panel were used in screening and identification of alloantibody and autoantibody respectively. Positive alloantibody is defined as positivity of indirect antiglobulin test and positive autoantibody is defined as positivity of direct antiglobulin test. Statistic analysis between erythrocyte alloantibody and autoantibody positivity and sex, type of rhesus, feritin level, type of iron chelation, and alloantibody were done.Results. From 88 subjects, there were 37,5% thalassemia patients that did not maintain haemoglobin level after transfusion. From 33 of those subjects, there were 78,6% subjects with alloantibody and 72,7% subjects with autoantibody. From 24 patients with autoantibody, there were 25% subjects with severe hemolytic anemia that clinically significant. Positif alloantibodi related to autoantibody production (p < 0,000). Positive alloantibody [odds ratio (OR) = 26,32; p < 0,000], positive autoantibody (OR = 11,99; p < 0,011), and feritin level > 3000 ng/ml (OR = 6,36; p < 0,042) related to failure on maintaining haemoglobin level.Conclusion. The proportion of failure on maintaining haemoglobin level in adult thalassemia patients were 37,5%. The proportion alloantibody and autoantibody production in adult thalassemia patients that failure on maintaining haemoglobin level were 78,6% and 72,7% respectively. Related factors of those were positive alloantibody and autoantibody, and feritin level > 3000 ng/ml. Positive alloantibody related to autoantibody production."

"ABSTRAKLatar belakang: Thalassemia merupakan kelainan genetik terbanyak di dunia, termasuk Indonesia. Pasien thalassemia mayor berisiko mengalami gangguan fungsi neurokognitif akibat anemia kronik dan penumpukan besi. Tujuan: mengetahui prevalens abnormalitas hasil EEG dan tes IQ, menganalisis faktor-faktor yang diduga berhubungan dengan gangguan fungsi neurokognitif pada anak dengan thalassemia mayor usia saat diagnosis, lama transfusi, pendidikan pasien, rerata Hb pra-transfusi, kadar feritin serum, saturasi transferin, dan komplians terhadap obat kelasi besi , serta untuk mengetahui apakah gangguan neurokognitif dapat memengaruhi fungsi sekolah. Metode: Penelitian potong lintang deskriptif analitik antara April 2016-April 2017. Pengukuran tes IQ menggunakan WISC-III. Hasil: Total subyek adalah 70 anak thalassemia mayor berusia antara 9 hingga 15,5 tahun. Prevalens hasil EEG abnormal adalah 60 dan prevalens skor IQ abnormal

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ABSTRACTBackground Thalassemia is the most common hereditary disorders worldwide, including Indonesia. Chronic anemia and iron overload in thalassemia major lead to several risk factors including neurocognitive problems. Aim To investigate the prevalence of abnormal EEG and IQ test, to identify the factors related to neurocognitive function in children with thalassemia major age at diagnosis, years of transfusion, patients education, pre transfusion haemoglobin level, ferritin, transferrin saturation, and compliance to chelation , and to identify whether neurocognitive dysfunction affects child rsquo s school performance. Methods A cross sectional descriptive analitic study. Subjects were recruited from April 2016 April 2017. Cognitive function assessed by the WISC III. Results A total 70 children aged from 9 to 15.5 years old were recruited. The prevalence of abnormal EEG and abnormal IQ score "

"ABSTRAK Latar belakang. Kelasi besi diduga berperan terhadap penurunan fungsi ginjal pada pasien thalassemia mayor. Data fungsi ginjal pasien thalassemia mayor yang menggunakan kelasi besi oral di Jakarta masih terbatas. Tujuan. Mengetahui penurunan fungsi ginjal pasien thalassemia mayor yang mendapat kelasi besi oral dan faktor yang memengaruhinya. Metode penelitian. Penelitian dilakukan bulan Maret ndash; Juli 2017 pada pasien thalassemia mayor yang mendapat kelasi besi oral tunggal selama minimal 1 tahun. Fungsi ginjal dinilai dengan laju filtrasi glomerulus berdasarkan formula Schwartz revisi Fungsi tubulus ginjal dinilai dengan peningkatan rasio kalsium kreatinin urin hiperkalsiuria . Hasil penelitian. Total subjek sebanyak 54 orang 28 deferipron, 26 deferasiroks . Proporsi LFG menurun pada kelompok deferipron lebih tinggi dibandingkan deferasiroks 53,6 vs 46,2 . Hiperkalsiuria lebih banyak ditemukan pada kelompok deferasiroks dibandingkan deferipron 12,9 vs 3,6 . Penurunan LFG bermakna pada kelompok deferipron tetapi tidak bermakna pada kelompok deferasiroks. Tidak terdapat perbedaan bermakna LFG dan rasio kalsium kreatinin urin antara kelompok deferipron vs deferasiroks p=0,427; p=0,109 . Usia, hemoglobin, rerata hemoglobin, feritin, dosis kelasi besi dan saturasi transferin hanya memengaruhi fungsi tubular ginjal. Simpulan. Terdapat penurunan fungsi ginjal pada pasien thalassemia mayor yang mendapatkan kelasi besi oral. Fungsi ginjal pada thalassemia perlu dinilai berkala meski penurunannya tidak bermakna secara klinis.Kata kunci: Thalassemia, fungsi ginjal, kelasi besi oralABSTRACT Background. Iron chelator can cause renal dysfunction in thalassemia major patients. Data of renal function in thalassemia major patients who receive oral iron chelator are limited. Objective. To determine kidney dysfunction in thalassemia major patients receiving oral iron chelator and its correlating factors. Methods. The study was conducted in March ndash July 2017 on thalassemia major patients treated with single oral iron chelator for at least 1 year. Renal function determined by glomerular filtration rate measured with revised Schwartz formula. Tubular function determined by increased urine calcium creatinine ratio hypercalciuria . Results. Total subjects were 54 28 deferiprone, 26 deferasirox . Proportion of decreased GFR in deferipron group was higher than deferasirox 53,6 vs 46,2 . Hypercalciuria was higher in deferasirox group than deferiprone 12,9 vs 3.6 . Declining of GFR was significant in deferiprone group but not significant in deferasirox group. There was no significant difference of GFR and urinary creatinine calcium ratio in deferiprone vs deferasirox group p 0.427 p 0.109 . Age, hemoglobin level, mean hemoglobin, ferritin, iron chelator dose and transferrin saturation only affecting kidney tubular function. Conclusions. Renal dysfunction was found in thalassemia major patients receiving oral iron chelator. Kidney function in thalassemia major patients should be monitored periodically eventhough the decline was not significant. Keywords Thalassemia, renal function, oral iron chelator"

"Thalassemia merupakan salah satu kelainan genetik paling umum di seluruh dunia. Tanpa managemen yang adekuat, komplikasi akan terjadi pada berbagai organ, termasuk sistem saraf. Tujuan penelitian ini adalah untuk menentukan proporsi abnormalitas Brain Auditory Evoked Potentials (BAEP), elektroensefalografi (EEG), dan elektroneurografi (ENG) pada anak thalassemia mayor dan hubungannya dengan faktor risiko terkait. Metode: Penelitian ini merupakan studi potong lintang deskriptif analitik yang dilakukan di Rumah Sakit Cipto Mangunkusumo (RSCM) Jakarta dan Rumah Sakit M Djamil (RSMDJ) Padang. Kriteria inklusi adalah anak thalassemia mayor berusia 12-18 tahun yang kontrol teratur minimal dalam 1 tahun terakhir. Pasien dengan epilepsi, palsi serebral, gangguan pendengaran, dan gangguan neurodevelopmental dikeluarkan dari penelitian. Pemeriksaan BAEP, EEG, dan ENG dilakukan pada semua subyek dan diinterpretasikan oleh konsultan neuropediatri. Dilakukan pencatatan usia onset, durasi transfusi, rerata hemoglobin (Hb) pra-transfusi, kadar feritin serum, saturasi feritin, dan kepatuhan konsumsi obat kelasi besi. Hubungan antar variabel dinilai menggunakan analisis bivariat dengan nilai p < 0,05 dikatakan bermakna. Hasil: Sebanyak 64 anak dengan rerata usia 15,1 tahun memenuhi kriteria penelitian, terdiri atas 29 anak laki-laki dan 35 anak perempuan. Rerata Hb pra transfusi, kadar feritin serum, dan saturasi transferin berturut-turut adalah 8,36 g/dL, 4495,3 ng/mL, dan 87,3%. Abnormalitas EEG ditemukan pada 28 (43,8%) subyek dan berhubungan bermakna dengan rerata Hb pra-transfusi < 9 g/dL (p=0,011, rasio prevalensi 3,014, interval kepercayaan 1,04-8,71). Abnormalitas BAEP ditemukan pada 4 (4,6%) subyek dan berhubungan bermakna dengan kadar feritin serum yang lebih tinggi (p=0,007). Hasil ENG abnormal hanya ditemukan pada 1 orang subyek. Tidak terdapat hubungan antara faktor risisko lainnya dengan masing-masing pemeriksaan neurofisiologi. Kesimpulan: Abnormalitas EEG ditemukan pada 43,8% anak thalassemia mayor dan berhubungan dengan rerata Hb pra-transfusi <9 g/dL, sedangkan abnormalitas BAEP ditemukan pada 4% subyek dan berhubungan dengan kadar feritin serum yang lebih tinggi.

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Thalassemia is among the most common genetic disorders worldwide. Without adequate management, complications occur in various organs as well as neurology system. The aim of the study was to determine the proportion of abnormal electroencephalography, brain auditory evoked potentials (BAEP), and nerve conduction study (NCS) in children with thalassemia major and its association with related risk factors. Methods: This was a descriptive-analytic cross sectional study conducted in Cipto Mangunkusumo Hospital and M Djamil Hospital in January to March 2019 All children with thalassemia major aged 12 to 18 years were eligible for the study. Children with epilepsy, palsy cerebral, hearing disorder, or neurodevelopmental problems were excluded. Electroencephalography, BAEP, and NCS were performed in all subjects. Age of onset, transfusion duration, mean pre-transfusion hemoglobin, serum ferritin, transferrin saturation, and compliance to chelating agents therapy were recorded. Bivariate analysis was performed to determine the relationsip between variables with p < 0,05 was considered significant. Results: As many as 64 children with mean age 15,1 years fulfilled the study criteria during the study period, consisting of 29 boys and 35 girls. Mean pre-transfusion hemoglobin, serum ferritin, and transferrin saturation was 8,36 g/dL, 4495,3 ng/mL, and 87,3% respectively. Abnormal EEG was found in 28 (43,8%) subjects and significantly associated with mean Hb below 9 g/dL (p = 0,011; prevalence ratio 3,014; confidence interval 1,04 - 8,71). Abnormal BAEP was found in 4 (4,6%) subjects and significantly associated with higher serum ferritin (p=0,007). Only 1 subject showed abnormal NCS. No association was found between other risk factors with each neurophysiology study. Conclusion: Abnormal EEG was found in 43,8% thalassemia major children and significantly associated with lower pre-transfusion hemoglobin level. Abnormal BAEP was found in 4% subjects and significantly associated with higher serum ferritin."

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Latar Belakang: Setiap individu memiliki antigen sel darah merah (SDM) yang unik pada membrannya. Terdapat lebih dari 300 antigen SDM yang dapat membagi darah ke dalam 36 sistem golongan. Adanya variasi pada antigen sel darah merah menyebabkan uji kecocokan darah antara pasien dengan donor wajib dilakukan guna mencegah terjadinya reaksi antara antigen donor dengan antibodi pasien. Pasien thalassemia memerlukan transfusi darah rutin yang dapat meningkatkan risiko terbentuknya aloantibodi, sehingga seringkali sulit untuk menemukan darah donor yang kompatibel. Unit Transfusi Darah (UTD), dalam rangka menjamin keselamatan pasien, harus mampu menyediakan darah donor tanpa antigen yang dapat menyebabkan reaksi transfusi. Pemeriksaan genotipe akan memberikan gambaran variasi antigen SDM donor, sehingga memudahkan pencarian donor yang sesuai untuk resipien.

Tujuan: Mengetahui adanya variasi genotipe antigen SDM pada donor sehingga dapat diupayakan penyerasian antigen darah donor untuk pasien transfusi berulang.

Metoda: Penelitian ini merupakan penelitian deskriptif observasional dengan desain potong lintang. Subyek pada penelitian ini adalah donor untuk pasien thalassemia. Sampel darah donor dikumpulkan untuk dilakukan pemeriksaan golongan darah ABO, Rhesus, ekstraksi DNA, dan genotipe antigen SDM.

Hasil dan Diskusi: Dari total 161 subyek penelitian, distribusi ABO/Rhesus donor adalah 68 subyek O+(42,24%), 43 subyek A+, 41 subyek B+, dan 9 subyek AB+. Setelah dilakukan pemeriksaan genotipe antigen SDM, didapatkan golongan darah dengan genotipe tersering untuk masing-masing golongan darah sebagai berikut Ce (98%) pada Rhesus, k/k (100%) pada Kell, Jk^a/Jk^b (40,76%) pada Kidd, Fy^a/Fy^a (74,84%) pada Duffy, Di^b/Di^b (99,36%) pada Diego, Do^b/Do^b (80,89%) pada Dombrock, Co^a/Co^a (100%) pada Colton, Yt^a/Yt^a (98.09%) pada Cartwright, MN (47,37%), s (86,54%) pada MNS dan Lu^b/Lu^b (100%) pada Lutheran. Pada studi ini juga ditemukan beberapa antigen darah langka seperti cE (1,33%), cEe (2%), CEe (1,33%), Fy^b (1,29%), Di^aDi^b (0,64%), Yt^aYt^b (1,91%), dan S (1,94%). Perlu diperhatikan antigen darah langka yang ditemukan pada donor/ populasi umum, bila ditransfusikan kepada pasien dengan antigen umum, dapat memicu timbulnya antibodi.

Kesimpulan: Pada penelitian ini ditemukan beberapa variasi genotipe antigen golongan darah pada donor, termasuk antigen langka. Perbedaan variasi antigen sel darah merah donor dan pasien dapat menyebabkan timbulnya aloantibodi, terutama pada pasien transfusi berulang. Oleh karena itu, pemeriksaan genotipe antigen SDM diharapkan dapat mengurangi reaksi transfusi dan meningkatkan keamanan pasien, terutama pasien yang membutuhkan transfusi berulang.

Kata kunci: antigen sel darah merah, genotipe, donor, aloantibodi

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Background: Every individual has unique antigens on their red blood cells surface. There are more than 300 antigens of red blood cells that differentiate blood into 36 blood group systems. Due to the variation in antigen of red blood cell, it is a must to perform blood group matching between the patients and donors blood to prevent reactions between the donors antigen and patients antibody in the blood. Thalassemia patients require regular transfusions which resulting in the production of alloantibody, hence making it difficult to find compatible blood. Blood Transfusion Units (UTD) is required to provide blood without antigen that can trigger transfusion reaction to ensure patient safety. Red blood cell antigen genotyping from the donor can describe the variation of red blood cell antigen from the donor.

Aims: To identify the genotype variation of the donor red blood cells antigen, hence optimizing the donors antigen matching in patients with regular transfusion.

Methods: This was a descriptive observational study with cross sectional design. Subjects in this study were donor for thalassemia patients. Blood samples from donors underwent several examinations, such as the ABO blood type testing, Rhesus testing, DNA extraction, and red blood cell antigen genotyping.

Results and Discussions: From a total of 161 research subjects, the distribution of ABO/Rhesus blood grouping are 68 of O+(42,24%), 43 of A+, 41 of B+, and 9 of AB+. From the red blood cell antigen genotyping, variations of red cell antigens were found in several blood group systems as follows, Rhesus, Kidd, Kell, Duffy, MNS, Diego, Dombrock, Colton, Cartwright, and Lutheran. Our findings also shown several rare antigens such as cE (1,33%), cEe (2%), CEe(1,33%), Fy^b (1,29%), Di^aDi^b (0,64%), Yt^aYt^b (1,91%), S (1,94%). It is important to note that rare blood antigens were found in donors/ general population, if blood is transfused to patients, it can trigger the alloantibody production.

Conclusion: Our study found there were genotype variations in the blood antigen of donor, some of them were rare types. The difference of red blood cell antigen between donors and patients may lead to the development of alloantibody, especially in patients who need multiple transfusion. Therefore, red blood cell antigen genotyping is expected to decrease the incidence of transfusion reactions and increase patient safety, especially in patients that required multiple transfusions.

Keywords: Red blood cells antigen, genotyping, donor, alloantibody

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"Latar belakang: Thalassemia merupakan kelainan genetik yang paling banyak ditemukan di seluruh dunia. Penyakit ini dapat menimbulkan berbagai masalah dan kelainan berbagai organ tubuh, termasuk pada rongga mulut. Tujuan: memperoleh gambaran mengenai kelainan yang terjadi pada rongga mulut pasien thalassemia mayor di Pusat Thalassemia RSCM. Metode: Penelitian cross-sectional terhadap 76 pasien thalassemia mayor yang berusia diatas 12 tahun. Data didapat dengan melakukan pemeriksaan klinis dan wawancara terstruktur menggunakan panduan kuesioner. Hasil: Keluhan subyektif dalam rongga mulut yang sering dialami adalah: serostomia, diikuti dengan sariawan berulang, bibir mengelupas dan pecah-pecah, serta gusi berdarah. Prevalensi kelainan klinis yang ditemukan meliputi: inkompetensi bibir (25,0%); malokusi: klas I (40,79%), klas II (51,32%) dan klas III (3,95%); higiene oral buruk (67,11%), dan gingivitis (82,89%). Nilai rata-rata DMF-T adalah 4,97. Kondisi dan lesi patologik mukosa mulut yang paling banyak ditemukan adalah pigmentasi mukosa (69,74%), diikuti dengan depapilasi lidah (56,58%), mukosa ikterik (52,63%), cheilosis/cheilitis (50,0%), mukosa pucat (44,74%), erosi/deskuamasi mukosa (44,74%), stomatitis aftosa rekuren (15,79%), glositis defisiensi (14,47%) dan perdarahan gingiva (11,84%). Kesimpulan: Maloklusi, higiene oral buruk, gingivitis, serostomia, pigmentasi mukosa, depapilasi lidah, mukosa ikterik, dan cheilosis/cheilitis, merupakan masalah yang paling umum ditemukan pada pasien thalassemia mayor dalam penelitian ini, namun indeks karies gigi terlihat rendah.

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Background: Thalassemia is the most common genetic disorders worldwide. The disease can cause various problems and disorders of various organs of the body, including in the oral cavity.

Objective: to describe the oral cavity disorders in patients with major thalassemia in Thalassemia Centre at Cipto Mangunkusumo Hospital.

Methods: cross-sectional study involved 76 patients with major thalassemia over 12 years of age. Data obtained by clinical examination and structured interviews using guidance from quistionnare.

Results: Oral subjective symptom which is often experienced is xerostomia, followed by recurrent aphthous stomatitis, cheilosis/cheilitis, and gingival bleeding. Prevalence of clinical findings consist of: incompetence of lips (25%); malocclusion: class I (40,79%), class II (51,32%) and class III (3,94%); poor oral hygiene (67,11), gingivitis (82,89%). DMF-T score was 4,97. Conditions and pathologic lesions more frequently seen are pigmentation of mucosa (69,74%), followed by depapillation of tongue (56,58%), icterus of mucosa (52,63%), cheilosis/cheilitis (50%), pallor of mucosa (44,74%), erosion/desquamation of mucosa (44,74%), recurrent aphthous stomatitis (15,79%), glossitis deficiency (14,47%), and gingival bleeding (11,84%).

Conclusion: Malocclusion, poor oral hygiene, gingivitis, xerostomia, pigmentation of mucosa, depapillation of tongue, icterus of mucosa, and cheilosis/cheilitis, were most prevalent problems in patients with major thalassemia in this study; nevertheless, dental caries show low index."

"Di Indonesia, thalassemia mayor merupakan salah satu masalah kesehatan karena morbiditas dan mortalitasnya yang tinggi. Thalassemia mayor ditandai dengan anemia berat sejak usia anak-anak dan memerlukan transfusi teratur untuk mempertahankan kadar hemoglobin. Untuk mengurangi kebutuhan akan transfusi darah, dilakukan splenektomi. Trombosis merupakan salah satu komplikasi thalassemia yang banyak dilaporkan di berbagai negara, tetapi di Indonesia sampai saat ini belum ada laporan. Trombosit dan sistem koagulasi memegang peranan dalam patogenesis trombosis. Tujuan penelitian ini adalah untuk mendapatkan gambaran mengenai kelainan trombosit serta aktivasi koagulasi pada penderita thalassemia mayor yang sudah maupun yang belum di-splenektomi di Indonesia.Desain penelitian ini potong lintang. Subyek penelitian terdiri dari 31 orang penderita thalassemia mayor yang sudah displenektomi (kelompok splenektomi) dan 35 orang penderita thalassemia mayor yang belum mengalami splenektomi (kelompok nonsplenektomi). Untuk menilai fungsi trombosit, dilakukan pemeriksaan agregasi trombosit terhadap adenosin difosfat (ADP), aktivasi trombosit dinilai dengan mengukur kadar β-tromboglobulin (β-TG), sedangkan aktivasi koagulasi dinilai dengan pemeriksaan D-dimer.Hasil penelitian ini menunjukkan bahwa jumlah trombosit pada kelompok splenektomi Iebih tinggi secara bermakna dibandingkan kelompok non-splenektomi (549.260+251.662/μI vs 156.000/μl (kisaran 34.000-046.000/μl); p<0,001). Demikian pula agregasi trombosit terhadap ADP 1 pM maupun 10 pM Iebih tinggi secara bermakna pada kelompok splenektomi dibandingkan dengan kelompok non-splenektomi (1 pM: 17,3% (kisaran 1,9-104,0%) vs 5,2% (kisaran 0,5-18,2%); p <0,001 dan 10 pM: 91,2% (kisaran 27,3-136,8%) vs 55,93 + 17,27%; p<0,001). Kadar β-TG Iebih tinggi secara bermakna pada kelompok splenektomi dibandingkan kelompok non-splenektomi (178,81 + 86,3 IU/ml vs 100,11 + 40,0 IU/ml; p<0,001). Kadar D-dimer juga Iebih tinggi secara bermakna pada kelompok splenektomi dibandingkan non-splenektomi walaupun keduanya masih dalam rentang normal (0,2 μg/ml (kisaran 0,1-0,7 g/ml) vs 0,1 μg/ml (kisaran 0,1-0,8 μg/mI).Dari hasil penelitian ini, disimpulkan bahwa pada penderita thalassemia mayor di Indonesia terdapat jumlah trombosit dan fungsi agregasi yang bervariasi, sedangkan aktivasi trombosit meningkat, tetapi belum dapat dibuktikan adanya aktivasi koagulasi. Pada penderita thalassemia mayor yang sudah displenektomi didapatkan trombositosis, serta agregasi trombosit terhadap ADP dan aktivasi trombosit yang Iebih tinggi dibandingkan dengan penderita yang belum di-splenektomi.

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Thalassemia major is one of the health problem in Indonesia due to its high morbidity and mortality. Thalassemia major is characterized by severe anemia presenting in the first years of life and requires regular transfusions to maintain hemoglobin level. Splenectomy is performed to decrease the need for transfusion. Thrombosis is one of the complications widely reported in patients with thalassemia in many parts of the world, but until now, there had been no report on this complication in Indonesia. Platelet and the coagulation system play a role in the pathogenesis of thrombosis. The aim of this study was to obtain the pattern of changes in platelet count, function and activation level, and activation of coagulation in patients with thalassemia major patients in Indonesia.The design of this study was cross-sectional. The subjects were 31 splenectomized and 35 non-splenectomized patients with thalassemia major. Platelet aggregation to adenosine diphosphate (ADP) was performed to assess platelet function; β-thromboglobulin level was used as marker of platelet activation, and D-dimer for activation of coagulation.The result of this study revealed a significantly higher platelet count in splenectomized compared to non-splenectomized patients (549.260 + 251.86210 vs-156.000/μl (34.000- 46.000/μl); p<0.001). Platelet aggregation to ADP were significantly higher in splenectomized patients than non-splenectomized group, both to 1 pM (17.3% (range 1.9-104M%) vs 5.2% (range 0.5-118.2%); p<0.001) and 10 μM ADP (91.2% (range 27.3-136.8%) vs 55.93 + 17.27%; p<0.001). β-thromboglobulin level was significantly higher in splenectomized patients compared to non-splenectomized patients (178.81 + 86.3 IU/rnl vs 100.11 + 40.0 IU/ml; p<0.001). D-dimer level was also significantly higher in the splenectomized group compared to non-splenectomized group although both had values within normal range (0.2 pglml (range 0.1-0.7 μg/mI) vs 0.1 pg1ml (range 0.1-0.8 μg/ml).We concluded that the platelet count and function were varied, while platelet activation level was increased in patients with thalassemia major in Indonesia, but activation of coagulation was not established. We also concluded that in splenectomized patients there were thrombocytosis and increased platelet aggregation to ADP and platelet activation level compared to non-splenectomized patients."