Dec 12, 2011 thalassemia thalassemia is an inherited blood disorder in which the body produces an abnormal form of hemoglobin which results in excessive destruction of red blood cells and further leads to anemia. Diagnosis thalassemia thalassemia alpha tidak semua jenis thalassemia alpha dapat didiagnosis dengan pemeriksaan hematologi indeks sel darah merah, morfologi sel darah merah dan analisis hb yang selalu dapat didiagnosis dengan pemeriksaan hematologi. Our stateoftheart facility is home to doctors, clinicians, and. The thalassemia syndrome is classified according to which of the globin chains. Hemoglobin manusia terdiri dari persenyawaan hem dan globin. Mengurangi olahraga berat guna menurunkan risiko perdarahan. Meskipun terdapat ketidakseimbangan, kondisi yang terjadi adalah ringan karena masih terdapat satu gen. The severity of alpha and beta thalassemia depends on how many of the four genes for alpha. Betathalassemia orphanet journal of rare diseases full text. Thalassemia results when mutations affecting the genes involved in hb biosynthesis lead to decreased hb production. Humans have different hemoglobins at various stages of development. This condition is called beta thalassemia trait, or beta thalassemia minor. Please use one of the following formats to cite this article in your essay, paper or report. It is based on those in use at the whittington hospital london document detail document type clinical guideline document name.
Hbbart hydrops fetalis yang disebabkan oleh delesi ke4 gen globin alpha beberapa jenis penyakit hbh. Istilah leukemia pertama kali dijelaskan oleh virchow sebagai darah putih pada tahun 1874, adalah. Gallstones and choledocolithiasis with severe cholestatic. The different types of hemoglobin present at different ages. Using the hemoglobin content of reticulocytes rethe to. Meskipun pertumbuhan terhenti, remodeling tulang berlanjut. It is important for people with thalassemia to learn how to stay healthy. Population and molecular genetic analysis of thalassemia variants, and microepidemiological studies of the relationship between. The spectrum of thalassemias is wide, with one end comprising thalassemia minor, which consists of a mild hypochromic microcytic anemia with.
Feb 05, 2019 tindakan pencegahan yang dapat dilakukan sejak dini untuk mencegah terjadinya anemia aplastik adalah. Depending on the severity of symptoms three categories may be identified. Hemoglobin adalah suatu zat di dalam sel darah merah yang berfungsi mengangkut zat asam dari paruparu ke seluruh tubuh, juga memberi warna merah pada eritrosit. Istilah leukemia pertama kali dijelaskan oleh virchow sebagai darah putih pada tahun 1874, adalah penyakit neoplastik yang ditandai dengan diferensiasi dan. Sep 29, 2011 the term thalassemia is derived from the greek words thalassa sea and haema blood and refers to disorders associated with defective synthesis of. This is also a very serious disorder and will cause severe to moderate anemia. Introduction thalassemia is an inherited autosomal recessive blood disorder. Mengurangi olahraga berat guna menurunkan risiko perdarahan karena kontak fisik. Thalassemia patofisiologi, diagnosis, penatalaksanaan. Remodeling tulang digambarkan dengan keseimbangan fungsi osteoblas dan osteoklas. Quick thalassemia facts thalassemia support foundation.
Pdf thalassemia is a disease with an extensive morbidity profile. Pathophysiology and clinical manifestations of the. Manifestasi klinik adalah terjadinya anemia, diatasi dengan pemberian transfusi darah rutin. I am yasmeen anis, age 23, living with a severe form of thalassemia, an inherited blood disorder in which the red blood cells arent able to get enough oxygen to the. Referat thalasemia pada kehamilan download documents. Pdf quality of life assessment of children with thalassemia. Thalassemia nearly 200 different mutations have been described in patients with bthalassemia and related disorders. Lokasi dan tipe mutasi penyebab thalassemia mutations affecting initiation of transcription located at the promoter regions. The interaction of hbe and beta thalassemia results in thalassemia phenotypes ranging from a condition indistinguishable from thalassemia major to a mild form of thalassemia intermedia.
To support and fund thalassemia scientific research, treatment, patient services, public awareness and education. Presentation of jaundice pathophysiology of jaundice pre hepatic o increased breakdown of red cells leads to increased serum bilirubin. Luspatercept increases hemoglobin and decreases transfusion. The degree of anemia in those with thalassemia intermedia is from nearly normal levels to sufficiently severe anemia to require occasional blood transfusions. If one gene is affected, a person is a carrier and has mild anemia. The file extension pdf and ranks to the documents category.
Patofisiologi osteoporosis adalah abnormalitas pada proses remodeling tulang dimana resorpsi tulang melebihi formasi tulang menyebabkan hilangnya massa tulang. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal,result in mild or. Megaloblastic anemias folic acid b 12 deficiencies liver disease reticulocytosis normal newborn bone marrow failure syndromes drugs azt, trimethoprin sulfate. I am yasmeen anis, age 23, living with a severe form of thalassemia, an inherited blood disorder in which the red blood. Tindakan pencegahan yang dapat dilakukan sejak dini untuk mencegah terjadinya anemia aplastik adalah. Transfusi darah, penyingkiran zat besi dan pemindahan sumsum tulang adalah antara. How i treat thalassemia blood american society of hematology.
Frekuensi thalassemia di asia tenggara adalah antara 39% tjokronegoro, 2001. Terapi ini merupakan terapi utama bagi orangorang yang menderita thalasemia sedang atau berat. Identifikasi anemia thalasemia betha mayor berdasarkan. Presentation of jaundice pathophysiology of jaundice. Ketidakseimbangan rantai globin pada thalassemia akan mempengaruhi kegagalan eritropoeisis dan mempercepat pengrusakan eritrosit.
Slide 1 thalassemias slide 2 lecture outline by the end of the lecture, the student should know. Thalassemia thalassemia is a group of inherited blood disorders which due to defects in the synthesis of globin chains of hemoglobins. Pdf background thalassemia is a chronic disease that is becoming a major health. Associated with absence or reduction in a or b globin chains. Anemia thalasemia merupakan penyakit hemolitik atau kurangnya kadar. Ihtc indianas premier blood disorder treatment center. Preliminary study on thalassemia screening and genetic. Intestinal bacteria convert some of the extra bilirubin into urobilinogen, some of which is reabsorbed and is excreted. May 21, 2010 beta thalassemia associated with other hb anomalies. Seperti halnya di muang thai, thalassemia hb e tidak jarang terdapat di bagian selatan cina. Family history and ancestry are factors which increase the risk of beta thalassemia. Thalasemia gejala, penyebab dan mengobati alodokter. Pdf renal complications in thalassemia researchgate. People with sicklebeta thalassemia and ebeta thalassemia should receive regular medical care.
It is caused by variant or missing genes that affect how the body make haemoglobin. Campbell, md louisiana state university health sciences center, new orleans, louisiana t he thalassemias named from the. Nilai normal hemoglobin pada pria dewasa 17,5 grdl dan pada wanita dewasa 1215,5 grdl. Akuisisi citra dilakukan dengan mengumpulkan file citra apusan mikroskopik sel. In this type, the lack of beta protein causes no problems in the normal functioning of the hemoglobin. Oct 03, 2018 infeksi saluran kemih atau yang sering kita sebut dengan isk adalah istilah. We do not find the alpha thalassemia 1 heterozygosity despite the high prevalence of alpha thalassemia in the whole country of thailand, 2. Pengobatan penyakit thalassemia sampai saat inibelum sampai. Thalassaemia intermedia, guidelines on diagnosis and. This condition clearly affects the patients quality of life, because of the condition itself.
Thalassemia alfa adalah sekelompok dari sindrom anemia herediter yang disebabkan oleh kurang atau tidak adanya produksi dari 1 atau lebih rantai globin alfa. Thalassemias slide 1 by the end of the lecture, the student. The thalassemia foundation of canada values your financial contribution in support of our ongoing projects that reflect our mission statement. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal,result in mild or severe anemia.
The research was conducted at thalassemia center of arifin achmad pekanbaru hospital on 56 samples taken by. Kelainan ini membuat penderitanya mengalami anemia atau kurang darah. Thalassaemia medication therapy adherence clinic tmtac is a service provided by pharmacists to. Beta thalassemia disease cooleys anemia information for physicians and other health care professionals definition beta thalassemia is an inherited red blood cell disorder that results in the complete absence or decreased synthesis of the beta globin chains of hemoglobin. Individu dengan thalassemia ini biasanya tidak menunjukkan simptom dan biasanya terdeteksi sewaktu pemeriksaan darah rutin. Thalassemia thalassemia is an inherited autosomal recessive blood disease.
Akibatnya, aktivitas penderita thalasemia akan terganggu. Pengaruh transfusi sel darah merah terhadap perubahan kadar kalium pada thalassemia mayor t halassemia adalah penyakit herediter. Genetic counseling resources for hemoglobin disorders and. Sk hospital, new delhi, india 3 department of microbiology, lady hardinge medical college and smt. This specific type of blood disease results in excessive destruction of red. Original article prevalence of thalassemia traits in people. Beberapa komplikasi yang berhubungan dengan talasemia. The application of molecular methods has, however, provided new opportunities to address this old question. The clinical phenotype results from both the diminished amount of the particular globin chain as well as from the resultant chain imbalance that occurs because of normal production of the other globin chain. Luspatercept increases hemoglobin and decreases transfusion burden in adults with beta thalassemia antonio g.
Depending on family history, if a persons parents or grandparents had beta thalassemia major or intermedia, there is a 75% 3 out of 4 probability see inheritance chart at top of page of the mutated gene being inherited by an offspring. Thalassemia thalassemia is an inherited blood disorder in which the body produces an abnormal form of hemoglobin which results in excessive destruction of red blood cells and further leads to anemia. Read personal stories from people living with thalassemia. Patofisiologi talasemidikutip dari hematologi onkologi medik, 2003 gejala berat, terlihat sejak usia 2 3 bulan tahun pertama kehidupan hb dari 48 gdlpucat, lemah, nafsu makan berkurang, letargy. Piga, md1, immacolata tartaglione, md2, rita gamberini, md3, ersi. Thalassemia also known as mediterranean anemia, cooleys anemia, beta thalassemia or alpha thalassemia is an inherited blood disorder affected by an abnormal form of hemoglobin. Pada thalassemia alfa, gen untuk terbentuknya rantaii globin alfa adalah yang terpengaruhi, dan kebalikannya untuk thalassemia beta. 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.
Patofisiologi yang mendasari antara jenis thalassemia hampir sama, ditandai dengan penurunan produksi hemoglobin dan sel darah merah rbc, adanya kelebihan rantai globin yang tidak efektif, akan menyebabkan bentuk homotetramers yang tidak stabil sehingga memicu terjadinya. Evaluation of anemia, particularly iron deficiency, in patients with cancer is difficult. Slide hemoglobin h disease y second most severe form alpha thalassemia. This blood disorder is the most common inherited single gene disorder in the world. Hal ini menyebabkan ketidakseimbangan produksi rantai globin. The thalassemias are classified according to which chain of. This study examined using the hemoglobin content of reticulocytes ret he to rule out iron deficiency, as defined by serum iron studies transferrin saturation pdf thalassemia is a disease with an extensive morbidity profile affecting almost every organ system. Scribd is the worlds largest social reading and publishing site. Mother is a main caregiver for children with thalassemia. Beta thalassemia occurs when one or both of the two genes are variant. 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. Vol 5, no 1 2003, hepatitis c pada thalassemia mayor.
We do not find the alphathalassemia1 heterozygosity despite the high prevalence of alphathalassemia in the whole country of thailand, 2. Thalassaemia major comprises of regular blood transfusion. Thalasemia adalah kelainan darah yang diturunkan dari orang tua. Ebeta thalassemia occurs when a person inherits one gene for beta thalassemia from one parent and one gene for hemoglobin e from the other parent. Despite discoveries concerning the molecular abnormalities that led to the thalassemic syndromes, it still is not known how accumulation of excess unmatched alphaglobin in beta thalassemia and betaglobin in alpha thalassemia leads to red blood cell hemolysis in the peripheral blood, and in the beta thalassemias particularly, premature. Original article prevalence of thalassemia traits in. Aug 23, 2018 please use one of the following formats to cite this article in your essay, paper or report. Talasemia adalah suatu kelainan genetik yang ditandai dengan penurunan. In indonesia the number of thalassemia patients by the. Talasemia adalah penyakit kelainan darah akibat kekurangan atau penu runan produksi hemoglobin.
Reduced synthesis of one of the globin chains can cause the formation of abnormal hemoglobin molecules, thus causing anemia. Ram manohar lohia hospital, new delhi, india 2 department of medicine, lady hardinge medical college and smt. This qualitative study used a descriptive phenomenology method, which aims to explore the experiences of mothers in. Patients with thalassemia should have regular blood transfusions and regular iron chelation therapy. Delta beta zero thalassemia disorder 76336008, snomedct epsilon gamma delta beta thalassemia disorder 23371004, snomedct gamma delta beta thalassemia disorder 788944005, snomedct. This is the most severe form of beta thalassemia in which there is complete lack of beta protein in the hemoglobin, which causes a lifethreatening anemia that requires regular blood. The hematological features of thalassemia trait are microcytosis, hypochromia, and usually an increase in the percentage of hba2. A person with this condition simply carries the genetic trait for thalassemia with no health problems other than a possible mild anemia cooleys anemia foundation, 2010. This unconjugated bilirubin isnt watersoluble so cant be excreted in the urine.
This qualitative study used a descriptive phenomenology method, which aims to explore the experiences of mothers in caring the children with thalassemia. Show full abstract destinasi utama wisatawan adalah. An individual with deltabeta thalassemia is usually asymptomatic, however microcytosis can occur where the red. Real stories from people living with thalassemia cdc. Thalasemia adalah suatu gangguan darah yang diturunkan ditandai oleh defisiensi produk rantai globulin pada hemoglobin suriadi 2010. Anemia adalah suatu kondisi tubuh yang terjadi ketika selsel darah merah eritrosit danatau hemoglobin hb yang sehat dalam darah berada di bawah nilai normal kurang darah. Thalassemias are inherited blood disorders characterized by decreased hemoglobin. The amount of the produced normal hemoglobin within the red blood cells correlates with the severity of. Referat thalasemia pada kehamilan there is document referat thalasemia pada kehamilan available here for reading and downloading. Thalassemia syndromes sideroblastic anemia transferrin deficiency 2. Deltabeta thalassemia is a form of thalassemia, and is autosomal recessive in terms of heredity. Use the download button below or simple online reader. Preliminary study on thalassemia screening and genetic counseling in selective hmong people in saraburi province, thailand by pa vang, rn, rcs, bsn. Hem terdiri dari zat besi fe dan globin adalah suatu protein yang terdiri dari rantai polipeptida.
Mar 23, 2020 it is important for people with thalassemia to learn how to stay healthy. Although most are small nucleotide substitutions within the cluster, deletions may also cause b thalassemia. Guidelines on diagnosis and management summary these comprehensive guidelines are intended for use as a reference for medical, nursing staff and all health care professionals. Jul 15, 2018 individu dengan thalassemia ini biasanya tidak menunjukkan simptom dan biasanya terdeteksi sewaktu pemeriksaan darah rutin. Kurang darah yang dialami penderita thalasemia akan menimbulkan keluhan cepat lelah, mudah mengantuk, hingga sesak napas. Feb 22, 2019 anemia adalah suatu kondisi tubuh yang terjadi ketika selsel darah merah eritrosit danatau hemoglobin hb yang sehat dalam darah berada di bawah nilai normal kurang darah.
696 419 1533 1044 1474 777 549 1350 455 406 550 1541 1226 1179 861 1683 561 1526 524 1004 128 1566 1580 1626 548 1282 1328 257 364 361 349 807 712 94 756 464 563 1450 599