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"ABSTRAKHemogiobinopati adalah kelainan hemoglobin bawaan yang diturunkan, merupakan salah satu penyakit genetik tersering dan menjadi masalah kesehatan masyarakat bagi banyak negara didunia. Sampai saat ini masih terdapat masalah gizi utama yang dihadapi di Indonesia seperti kurang kalori protein, gangguan akibat kurang yodium, kekurangan vitamin A dan anemia gizi.Tujuan penelitian ini adalah pertama, ingin mengetahui angka kejadian dan pola hemoglobinopati pada siswi SLTP Negeri Curug Tangerang. Kedua, ingin mengetahui angka kejadian defisiensi besi pada siswi SLTP Negeri Curug Tangerang tersebut.Sebagai bahan penelitian adalah darah vena sebanyak 6m1 dari 69 orang siswi SLTP Curug Tangerang yang berusia antara 13-15 tahun, dimasukkan kedalam 2 tabung penampung vacuette 3mL yang berisi antikoagulan K3EDTA. Pemeriksaan hematologi meliputi kadar hemoglobin, volume eritrosit rata-rata (VER), hemoglobin eritrosit rata-rata (HER) dan konsentrasi eritrosit rata-rata (KHER), dilakukan terhadap semua bahan pemeriksaan. Pemeriksaan kadar feritin dilakukan terhadap semua bahan pemeriksaan. Pemeriksaan elektroforesis hemoglobin dilakukan pada semua bahan pemeriksaan dan terhadap fraksi yang tebal dilakukan pencacahan. Uji dichlorophenol indophenol (DCIP) dilakukan terhadap kelompok kasus hemoglobin varian dengan fraksi HbA2 yang tebal. Pewarnaan supravital dengan brilliant cresyl blue (BCB) 1% dilakukan pada kelompok kasus eritrosit mikrositik hipokrom tanpa hemoglobin varian. Pemeriksaan kadar HbA2 dan HbF hanya dilakukan terhadap kelompok kasus eritrosit mikrositik hipokrom dengan kadar feritin >20 nglmL.Hasil penelitian : Dari 69 orang siswi didapatkan kelompok kasus anemi 5169 (7,25%) dan kelompok kasus non anemi 64/69 (92,75%). Kelompok kasus anemi 5169 (7,25%) terdiri dari kasus anemi disertai defisiensi besi 4/69 (5,80%) dan kasus anemi tanpa defisiensi besi 1169 (1,45%) merupakan kasus anemi normositik normokrom. Anemi disertai defisiensi besi 4169 (5,80%) terdiri dari kasus anemi defisiensi besi lanjut 2169 (2,89%) dan kasus anemia defisiensi besi dini 2/69 (2,89%). Kelompok kasus non anemi 64169 (92,75%) dibedakan menjadi kasus non anemi disertai defisiensi besi dan kasus non anemi tanpa defisiensi besi. Kelompok kasus non anemi disertai defisiensi besi 14.169 (20,29%) terdiri dari kasus defisiensi besi prelaten 6169 (8,70%), kasus hemoglobin AE disertai defisiensi besi prelaten 2/69 (2,89%) dan kasus defisiensi besi laten 6169 (8,70%). Sedangkan kelompok kasus non anemi fanpa defisiensi besi 50/69,(72,46%) terdiri dari kasus hemoglobinopati tanpa defisiensi besi '12169' (17,39%}` dan sesuai dengan kemungkinan kasus "normal 38/69 (55,07%). Kelompok kasus hemoglobinopati tanpa defisiensi besi 12169 (17,39%) terdiri dari kasus hemoglobin AE 6/99 (8,70%), kasus thalassemia trait 4/69 (5,80%) dan kemungkinan kasus thassemia at trait 2169 (2,89%).SARAN : Pada kelompok kasus defisiensi besi setelah defisiensi besi teratasi, bila morfologi eritrosit masih tetap memperlihatkan mikrositik hipokrom, sebaiknya dilakukan pemeriksaan ulang analisa hemoglobin.

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ABSTRACT

Hemoglobinophaty and Iron Deficiency of Female Students in SLTP Negeri Curug TangerangHemogIobinopathy is an inheridited disorder and the most prevalent genetic disease, and is the cause of major public health problem in many parts of the world. Until now Indonesia has nutritional problems such as protein calory deficiency, iodium deficiency, vitamin A deficiency and nutritional anemia.

The first purpose of the study is to know the prevalence and pattern of hemoglobinopathy of female students in SLTP Curug Tangerang. The second purpose is to know the prevalence of iron deficiency of the female students in SLTP Curug Tangerang.

The samples were 6 cc of blood vein of 69 subjects about 13-15 years old. It was kept in 2 tubes of 3 cc tube vacuette each with anticoagulant K3EDTA. The hematologic examinations which were done for all samples were hemoglobin concentration, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCI-IC). The determination of ferritin concentration was done for all samples. Hemoglobin electrophoresis was done for all samples, and samples with thick fraction were scarred. Dichlarophenol indophenol (DCIP) was done for variant hemoglobins with thick HbA2. Supraviital stain with brilliant cresyl blue (BCB) 1% was done for microcytic hypochromic eritrocyte without variant hemoglobin group. The determination of HbA2 and HbF were only done for microcytic hypochromic erytrocyte group with feritin concentration >20 ng/mL.

The results showed that anemia cases were 5/69 (7.25%) and non anemia cases were 64169 (92.75%). The group of anemia cases with iron deficiency were 4169 (5.80%) and anemia case without iron deficiency was 1169 (1.45%) of normocytic normochromic anemia. Iron deficiency anemias were 4169 (5.80%) containing advanced iron deficiency anemias of 2169 (2.89%) and early iron deficiency anemias of 2169 (2.89%). Non anemia cases were 64/69 divided into non anemias with iron deficiency group and non anemias without iron deficiency group_ Non anemias with iron deficiency contained prelatbnt iron deficiency of 6169 (8,70%), hemoglobin AE with prelatent iron deficiency of 2169 (2.89%) and latent iron deficiency of 6169 (8.70%)_ Non anemias without iron deficiency were 50169 (72.46%) containing hemoglobinopathy without iron deficiency of 12169 (17.39%) and the possibility of "normal' cases of 38/69 (55.07%). Hemoglobinopathy without iron deficiency were 12169 (17.39) containing hemoglobin AE of 6/69 (8.70%), thalassemia ¢ trait of 4/69 (5.80%) and the possibility of thalassemia a? trait cases of 2169 (2,89%).

Suggestion for the iron deficiency group : If after the therapy was done, the morpgology erytrocyte is still microcytic hypochromic then hemoglobin analysis should be done."

"Talasemia B merupakan penyakit herediter yang dapat mengakibatkan terjadinya kelainan fisik maupun mental. Penyebaran penyakit ini terutama bersifat etnis dan adanya perkawinan antar bangsa menyebabkan angka kejadian semakin tinggi dan merata. Penemuan penderita talasemia B heterozigot berdasarkan pemeriksaan analisis Hb dinilai mahal dan cukup sulit. Tujuan penelitian ini untuk mendapatkan gambaran pola kadar HbA2 dan HbF serta gambaran parameter hematologi penderita talasemia B heterozigot dan talasemia B - HbE. Dari 1 Maret 1992 sampai 31 September 1992 di UPF Bagian Patologi Klinik FKUI-RSCM telah dilakukan pemeriksaan analisis Hb terhadap 740 contoh darah penderita. Sejumlah 31,1% (230/740) didiagnosis sebagai talasemia B heterozigot dan sejumlah 2,2% (16/740) sebagai talasemia R - HbE. Rasio penderita wanita terhadap pria adalah 1,005:1 untuk talasemia 0 heterozigot dan 1,67:1 untuk talasemia 0 - HbE. Pola HbA2 normal HbF tinggi merupakan bentuk talasemia B heterozigot yang paling sedikit ditemukan, namun mempunyai gambaran parameter hematologi yang lebih berat dibandingkan pola lainnya. Kadar Hb pada talasemia B heterozigot berkisar antara 5,8-16,5 g/dl dengan rata-rata 11,63 g/dl dan pada talasemia B - HbE antara 3,2-8,2 g/dl dengan rata-rata 6,10 g/dl. Nilai Ht pada talasemia B heterozigat berkisar antara 20,9-57,1% dengan rata-rata 35,48% dan pada talasemia B - HbE antara 9,4-26,5% dengan rata-rata 19,57%. Kedua parameter hematologi di atas berbeda bermakna dibandingkan kontrol. Terdapat kadar Hb dan nilai Ht yang lebih rendah seoara bermakna pada penderita talasemia B heterozigot dibandingkan talasemia bentuk HbA2 tinggi. Demikian juga halnya pada penderita wanita dibandingkan penderita pria. Jumlah eritrosit pada penderita talasemia B heterozigot berkisar antara 2,20-8,27 juta/µl dengan rata-rata 4,67 juta/µl dan pada talasemia B - HbE antara 1,54-4,08 juta/µl dengan rata-rata 3,01 juta/µl. Perbedaan ini bermakna. Pada penderita wanita jumlah eritrosit lebih rendah dibandingkan penderita pria. Nilai VER pada penderita talasemia. 0 heterozigot berkisar antara 55-111 fl dengan rata-rata 76,9 fl, sedangkan pada talasemia f3 - HbE antara 52-80 fl dengan rata-rata 64,7 fl. Nilai HER pada penderita talasemia 0 heterozigot antara 15,1-33,5 pg dengan rata-rata 25,19 pg dan pada talasemia 0 - HbE 17,0-23,9 pg dengan rata-rata 20,27 pg. Kedua parameter ini berbeda bermakna dibandingkan dengan kontrol. Jumlah trombosit yang meningkat pada talasemia B heterozigot dan talasemia B - HbE, karena peningkatan eritrosit mikrositik yang terukur sebagai trombosit. Hitung retikulosit absolut yang meningkat dengan RPI normal inenunjukkan terjadinya eritropoisis yang tidak efektif. Kesimpulan penelitian ini adalah talasemia B heterozigot dan talasemia B - HbE mengakibatkan terjadinya perubahan parameter hematologi. Perubahan ini meliputi kadar Hb, nilai Ht, nilai VER & HER, jumlah trombosit dan hitung retikulosit absolut serta morfologi eritrosit pada sediaan hapus darah tepi. Selain itu pada penderita wanita dan talasemia B heterozigot perubahan parameter ini menjadi semakin nyata.

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Hematological Changes in Patients with Heterozygote Thalassemia and Thalassemia Hemoglobin E Disease in the Department of Clinical Pathology FKUI/RSCMBeta thalassemia is a hereditary disorder which can cause physical and mental abnormalities. This disease is ethnically distributed, and marriage between individuals of different nations cause a higher prevalence and a wider distribution. Detection of cases based on hemoglobin analysis is relatively expensive and difficult.

The aim of this study is to obtain pattern of HbA2 and HbF levels, and hematologic parameters in patients with heterozygote thalassemia and thalassemia - HbE.

From March to September 1992 in the Department of Clinical Pathology FKUI/RSCM has been performed hemoglobin analysis of 740 patients. The diagnosis of heterozygote thalasemia was made on 31,1 % (230/740) of samples and B thalassemia hemoglobin on 2,2 % (16/740) of samples. Female to male ratio was 1,005 to 1 for heterozygote B thalassemia and 1,67 to 1 for l thalassemia - HbE. Pattern of normal HbA2 and high HbF was the most infrequently round among heterozygote 8 thalassemia, but gave the most severe hematologic abnormalities.

Hemoglobin levels of patients with heterozygote thalassemia were between 5,8 - 16,5 g/dL with mean value 11,6 g/dL, whereas the level of patients with p thalassemia - HbE were between 3,2 - 8,2 g/dL with mean value 6,1 g/dL. Hematocrit values were between 20,9 - 57,1 with mean value 35,5 % in patients with heterozygote thalassemia, and were between 9,4 - 28,5% with mean value 19,6% in patients with thalassemia - HbE. Both parameters were significantly lower than control. Hemoglobin and hematocrit of patients- with heterozygote E thalassemia were higher than patients with high HbA2 thalassemia. Female patients had lower values compare to male.

Erythrocyte count in patients with heterozygote thalassemia were between 2,2 -- 8,3 millions/uL with mean value 4,7 millions/ uL, significantly higher than the value in patients with p thalassemia - HbE which were between 1 , 5 - 4,1 millions./ut., with mean value 3,01 millions/uL. Female patients also had lower values compare to male.

MCV were between 5S - 111 fL with mean value 76,9 fL in patients with heterozygote thalassemia and between 52 - 80 fL with mean value 64,7 fL, in patients with (3 thalassemia - HbE. MCH were between 15,1 -.33,5 pg with mean value 25,2 pg in patients with Heterozygote thalassemia and between 17,0 - 23,9 pg with mean value 20,3 pg in patients with thalassemia HbE. Both parameters were significantly lower than control.

Thrombocyte count was Increase in patients with heterozygote thalassemia and (El thalassemia - HbE, due to microcytic erythrocytes which were counted as thrombocyte. High absolute number of reticulocyte with normal RPI suggested an ineffective erythropoiesis.

In conclusion, heterozygote thalassemia and r thalassemia - HbE caused hematologic changes such as a decrease of hemoglobin, hematocrit, MCV and MCH values; an increase of thrombocyte and absolute reticulocyte count; and an abnormal erythrocyte morphology on peripheral blood smear. In female and heterozygote E thalassemia patients these changes were more prominent."

"Thalassemia b mayor adalah penyakit yang disebabkan oleh kelainan sintesis rantai polipeptida b yang diturunkan secara otosom resesif. Penanganan kasus dengan thalassemia b mayor berupa pemberian transfusi berulang yang akan mengakibatkan hemokromatosis. Hemokromatosis dapat terjadi pada beberapa organ tubuh termasuk pankreas. Tujuan penelitian ini untuk mendapatkan kadar gula darah dan angka kejadian hemokromatosis pada penderita thalassemia b mayor. Telah diperiksa kadar gula darah puasa dan kadar ferritin serum pada 115 penderita thalassemia b mayor yang berumur 10-23 tahun dari Pusat Thalassemia Bagian Ilmu Kesehatan Anak Fakultas Kedokteran Universitas Indonesia-Rumah Sakit Cipto Mangunkusumo Jakarta. Kadar gula darah diperiksa dengan metode enzimatik sesuai dengan kriteria American Diabetes Association (ADA), kadar ferritin serum diperiksa dengan metode microparticle enzyme immuno assay (MEIA). Pada penelitian didapatkan semua kasus yang diperiksa menunjukkan hemokromatosis, 14,8% dari pada kasus disertai dengan kadar gula darah puasa terganggu dan 2,6% menujukkan adanya diabetes melitus. Penderita thalassemia b mayor yang mendapat transfusi berulang menyebabkan terjadinya hemokromatosis yang dapat mengganggu fungsi pankreas. (Med J Indones 2003; 12: 87-93)

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b-thalassemia major is a disease caused by b polypeptide chain synthesis disorder which is inherited as an autosomal recessive from both parents which is marked by little or no b globin chain synthesis. Medication for b thalassemia major patients is by repeated blood transfusions, which causes hemochromatosis. Hemochromatosis can occur in various organs including the pancreas. The aim of the study was to assess the alteration of plasma glucose concentration and the hemochromatosis prevalence. Fasting plasma glucose concentration and serum ferritin examination were measured in 115 b thalassemia major patients with ages between 10-23 years who were out-patients in the Thalassemia Centre, Department of Child Health, Medical School, University of Indonesia / Dr. Cipto Mangunkusumo General Hospital, Jakarta. The plasma glucose concentration examination was conducted by the GDH enzymatic method, with American Diabetes Association (ADA) criteria in the evaluation, while the serum ferritin examination was conducted with the microparticle enzyme immuno assay (MEIA) method. All patients had hemochromatosis, 14.8% of the patients had impaired fasting glucose level and 2.6% of the patients showed indications of diabetes mellitus. b thalassemia major patients who receive frequent transfusions will develop hemochromatosis that will in turn impair the pancreatic function. (Med J Indones 2003; 12: 87-93)"

"Seratus lima belas penderita thalassemia beta mayor yang mendapatkan tranfusi rutin di Pusat Thalassemia Bagian Ilmu Kesehatan Anak, Fakultas Kedokteran, Universitas Indonesia ? Rumah Sakit Umum Pusat Dr. Cipto Mangunkusumo dilakukan pemeriksaan hematologi. Didapatkan korelasi yang negatif antara besarnya limpa dengan parameter hematologi darah tepi. Hasil pemeriksaan parameter darah tepi cenderung menurun dengan membesarnya limpa dan kondisi tersebut akan membaik setelah splenektomi. Pada penelitian kami hipersplenisme dimulai pada limpa S (V ? VI). Pemeriksaan elektroforesis hemoglobin didapatkan penebalan fraksi HbF dan 90 penderita tersebut menunjukkan pola yg normal. Oleh karena itu, untuk melakukan konfirmasi elektroforesis hemoglobin perlu dilakukan dengan pemeriksaan elektroforesis hemoglobin pada kedua orang tua atau pemeriksaan analisis genetik dengan teknik biomolekuler. (Med J Indones 2004; 13: 8-16)

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One hundred and fifteen beta thalassemia major outpatients attending the Thalassemia Center Department of Child Health, Medical School University of Indonesia Dr. Cipto Mangunkusumo General Hospital for routine blood transfusion and hematology examination, participated in this study. There was a negative correlation between the size of the spleen and the peripheral blood parameters. All peripheral blood parameters tend to decrease with the enlargement of the spleen, and the condition is reversed after splenectomy. We observed that hypersplenism starts when the spleen is as big as S (V ? VI). The hemoglobin electrophoresis pattern from beta thalassemia major patients receiving repeated blood transfusion did not show a dense HbF fraction, 90 patients showed a normal hemoglobin electrophoresis pattern. A hemoglobin analysis of both parents could be useful to confirm the diagnosis of beta thalassemia major for patients receiving repeated blood transfusion. In order to get a definite diagnosis, a genetic analysis by bio molecular technique is needed. (Med J Indones 2004; 13: 8-16)"