Thalassemia is a difficult subject to explain, since the condition is not a single disorder but a group of defects with similar clinical effects. Ayah dan ibu pasien menyangkal bahwa leluhur mereka ada yang memiliki thalasemia. Hemoglobin adalah suatu protein dalam sel darah merah yang mengangkut oksigen dan nutrisi lainnya ke selsel lainnya dalam tubuh. Slide 1 thalassemias slide 2 lecture outline by the end of the lecture, the student should know. Beta thalassemia can be further divided into a heterozygous minor and a homozygous major variant. Red cell alloimmunization in repeatedly transfused. Thalasemia adalah suatu penyakit keturunan yang diakibatkan oleh kegagalan pembentukan salah satu dari empat rantai asam amino yang membentuk hemoglobin, sehingga hemoglobin tidak terbentuk sempurna. The different types of hemoglobin present at different ages. The minor variant features only a low risk of hemolysis.
Screening and prenatal diagnostic approaches distance learning course from research to practice. Identifikasi anemia thalasemia betha mayor berdasarkan. The thalassemias are autosomal recessive disorders which result in reduced production of one or more subunits of hemoglobin. The pdf file you selected should load here if your web browser has a pdf reader plugin installed for example, a recent version of adobe acrobat reader. Consumer reports ranks excelas cardiothoracic surgical program among the nations best with the excela health physician practice of cardiothoracic surgical associates ranking among the top 10 percent nationally, receiving the highest rating from the society of. Nursing assessment if you observe a child of thalassemia major you can identify the following clinical manifestations. But beta thalasemia, sickle cell anemia, malaria are not less important. Penyakit ini pertama sekali ditemukan oleh seorang dokter di detroit usa yang bernama thomas b. Material and methods in this cross sectional descriptive study, a total of 674 subjects were included in the study from january 2007 to march 2009. Thalasemia adalah penyakit keturunan karena adanya kelainan darah yang dapat berdampak pada berbagai organ akibat penyakitnya sendiri atau pengobatan. Heart services at excela health have been recognized by national, regional and local groups and include. Thalassemia is a genetic blood disorder in which the. Layanan pencarian jurnal dan penerjemahan jurnal kedokteran bergaransi. Thalassemia symptoms, diagnosis, treatment and information.
I m wondering if it s possible that i also have thalassemia, even though i am not anemic and my red cells seem in the normal range. Us of spleen mri analysis of myocardial iron content in heart failure regular plain film xrays of vertebrae and extremities if on deferoxamine therapy other highly specialize studies references 1. Bentuk thalasemia mayor mempunyai dampak medikososial yang besar, penanganannya sangat mahal dan sering diakhiri kematian. Bernadette hematologia clinica fundamentos y aplicaciones clinicas 2 edicion editorial medica panamericana 3.
This is an organization of volunteers from all walks of life who have dedicated themselves to achieve the following goals. Feb 26, 2019 please use one of the following formats to cite this article in your essay, paper or report. Thalassemia knowledge for medical students and physicians. Thalassemia intermedia ti, also known as nontransfusion dependent thalassemia ntdt, is a type of thalassemia where affected patients do not require lifelong regular transfusions for survival but may require occasional or even frequent transfusions in certain clinical settings and for defined periods of time. Dec 16, 2019 splenectomy is the principal surgical procedure used for some patients with thalassemia. Anaemia with haemoglobin level of 3 to 8 gm per cent and hepatosplenomegaly, bone changes as a result of anoxia due to severe anaemia which presents with prominent cheeks, globular enlargement of the head, depressed bridge of the nose, mongoloid slant, protruding maxilla and a. Beatrice gulbis y patricia aguilar martinez traductor. Inspired by the standards for clinical care document produced by the uk thalassemia. These conditions cause varying degrees of anemia, which can range from. Guidelines for the clinical care of patients with thalassemia in canada.
Thalassaemia society of pakistan was established in 1994. Yang dimaksud dengan laut tersebut ialah laut tengah, oleh karena penyakit ini pertama kali dikenal di daerah sekitar laut tengah. Thalassemia in families of thalassemia major patients so that magnitude of the problem can be assessed in target population of the country. Thalassemias blood disorders merck manuals consumer version. Thalasemia adalah penyakit kelainan darah yang diwariskan oleh orangtua kepada anak. Thalassemia thalassemia is a group of inherited blood disorders which due to defects in the synthesis of globin chains of hemoglobins. Thalassemia definition thalassemia describes a group of inherited disorders characterized by reduced or absent amounts of hemoglobin, the oxygencarrying protein inside the red blood cells. Please use one of the following formats to cite this article in your essay, paper or report. All thalassemias have similar symptoms, but they vary in severity. The hemoglobin molecules have important function to bind oxygen in the lungs properly and deliver it to all tissues in other parts of the body. Talasemia merupakan salah satu penyakit genetik bawaan terbanyak di dunia.
Tujuan penelitian ini untuk mengetahui frekuensi thalassemia beta minor pada siswa siswi. Video for youtube vlog video instagram video bumfer video weddingpra wedding video promosi video presentasi. Thalasemia mempengaruhi kemampuan dalam menghasilkan hemoglobin yang berakibat pada penyakit anemia. This condition is a variation of hemoglobin hconstant spring that occurs when two constant spring carriers pass their genes on to their child. Thalassemia prevention although thalassemia cannot be prevented, it can be identified before birth by prenatal diagnosis. There are two basic groups of thalassemia disorders. Thalassemia subject collection hemoglobin and its diseases. It seems that any other results to do with my red cells are in the normal range. Hence this group of anemias are also known as cooleys anemia or mediteranian anemia. Splenectomy is the principal surgical procedure used for some patients with thalassemia. The genetic defect causes a reduction in the rate of globin chain synthesis which causes the formation of abnormal hemoglobin molecules.
Thalasemia merupakan penyakit kelainan darah yang diwariskan. Hemoglobinopathy structural due to mutations in either alpha or beta globin structural substitution, addition or deletion of one or more aas in the globin chain. Thalasemia berasal dari kata yunani, yaitu talassa yang berarti laut. Berikut ini adalah download jurnal gratis yang merupakan kumpulan file dari berbagi sumber tentang jurnal penelitian thalasemia pdf yang bisa bapakibu gunakan dan diunduh secara gratis dengan menekan tombol download biru dibawah ini. A study to assess the safety tolerability and efficacy of st400 for treatment of transfusiondependent betathalassemia tdt once consented, study participants will progress through the following stages.
When both parents have alpha thalassemia trait, there usually is a 25% or 1 in 4 chance in each pregnancy for the baby to have alpha. Riwayat penyakit dahulu pasien mengidap thalasemia dan sering kontrol ke dokter. Based on the defective globin chain, they are classified as either alpha or beta subtypes. Skrining thalassemia beta minor pada siswa sma di jatinangor. Level of awareness about thalassemia among parents of. Jul 12, 2016 riwayat penyakit dahulu pasien mengidap thalasemia dan sering kontrol ke dokter. Video for youtube vlog video instagram video bumfer video weddingpra wedding video promosi video presentasi video dokumentasi. Thalasemia mayor adalah penyakit genetik yang diderita seumur hidup, tidak bisa sembuh, hal ini akan menimbulkan dampak psikososial bagi orang tua penderita thalasemia karena pengobatan dan. Prognosis is improving, however, there is a lack of estimates of the affected population, resources for prevention, control and management in the country. Laboratory diagnosis of hemoglobinopathies and thalassemia. Thalassemias are a heterogeneous group of hereditary blood disorders characterized by faulty globin chain synthesis resulting in defective hemoglobin, which can lead to anemia. Slide hemoglobin h disease y second most severe form alpha thalassemia. People who have thalassemia or people who have the thalassemia trait can receive genetic counseling to avoid passing the disorder on to their children. Medlineplus en espanol tambien contiene enlaces a sitios web no gubernamentales.
Survey of blood transfusioninduced malaria and other diseases in thalassemia patients from solapur district m. The resultant microcytic anemia is the characteristic presenting symptom of the thalassemias. More confusion arises from the fact that the clinical descriptions of thalassemia were in use before the molecular basis of the thalassemias were uncovered. Prevention screening and prenatal diagnostic approaches. Inspired by the standards for clinical care document produced by the uk thalassemia society, the canadian guidelines are the result of strong. Jurnal keperawatan sriwijaya, volume 5 nomor 2, juli 2018, issn no 2355 5459. Lichtman ma, kipps tj, seligsohn u, kaushansky k, prchal jt.
A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Thalassemias slide 1 by the end of the lecture, the. With reports made of venous thromboembolic events vtes after splenectomy, one should carefully consider the benefits and risks before splenectomy is advocated. Pdf buku ini merupakan salah satu buku referensi dalam pembahasan tentang penyakit genetik talasemia.
Berikut ini adalah download jurnal gratis yang merupakan kumpulan file dari berbagi sumber tentang jurnal tentang thalasemia yang bisa bapakibu gunakan dan diunduh secara gratis dengan menekan tombol download biru dibawah ini. The most severe form of alpha thalassemia, alpha thalassemia disease alpha thalassemia major can only happen when both parents have alpha thalassemia trait. Laboratory diagnosis of hemoglobinopathies and thalassemia medical director, hematopathology and rbc laboratory arup laboratories assistant professor of pathology. Tubuh tidak dapat membentuk sel darah merah yang normal, sehingga sel darah merah mudah rusak atau berumur pendek kurang dari 120 hari dan. In alphathalassemia minor and betathalassemia minor, people have mild anemia with no symptoms. Persons with beta thalassemia major require periodic lifelong blood transfusions to maintain hemoglobin levels higher than 9.
Humans have different hemoglobins at various stages of development. Dalam rangka pencegahan penyakit thalasemia menurut lanni 2002 ada beberapa masalah pokok yang harus disampaikan kepada masyarakat, ialah. Most of their patients, and those reported by others later, were of mediteranian ancestry. Training course in sexual and reproductive health research. Red cell alloimmunization in repeatedly transfused thalassemia major patients khalid hassan, muhammad younus, nadeem ikram, lubna naseem and hassan abbas zaheer department of pathology, pakistan institute of medical sciences, islamabad department of pathology, rawalpindi medical college, rawalpindi. Thalassemias are generally more frequent in areas where malaria is endemic. Thalassemia is an autosomal recessive hemoglobinopathy that originated in the mediterranean region. Thalassemias slide 1 by the end of the lecture, the student. In alphathalassemia major, people have moderate or severe symptoms of anemia, including fatigue, shortness of breath, paleness, and an enlarged spleen, which leads to a feeling of. Sayangnya skrining ini belum menjadi prioritas pemerintah. We have put the relevent points to be covered while taking the case. Dengan melakukan skrining, akan banyak biaya yang dapat dihemat pada 1020 tahun mendatang bisa dipakai di dan bidang lainnya. Thalasemia definition of thalasemia by medical dictionary. Incidence and profile of severe anemia in children aged 1 month to 14 years attending tertiary level care hospital he said that punjab thalasemia prevention and treatment programme ptpp had prepared this bill in collaboration with the lawmakers.
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