Talasemia wikipedia bahasa indonesia, ensiklopedia bebas. Thalassemia merupakan penyakit keturunan kelainan genetik akibat kelainan sel. Introduction thalassemia is an inherited autosomal recessive blood disorder. Faktor risiko hiperkoagulasi pada thalassemia anak sari pediatri. Thalassemia subject collection hemoglobin and its diseases therapies new disease models leading the way to targeted cellfree hemoglobin and its scavenger proteins.
Patofisiologi tersebut menjelaskan manifestasi klinis yang muncul pada. To facilitate an effective prevention program, the 3thalassemia mutations in. Thalassemia syndrome tangvarasittichai surapon chronic diseases research unit, department of medical technology, naresuan university, phitsanulok thailand 1. At the heart of the organization is a strong desire to help improve the quality of life for all patients with thalassemia. It is important for proper red blood cell function because it carries the oxygen that. The foundation provides hope, comfort and encouragement to those battling this disorder.
Although thalassemia mostly affects developing countries, there is limited knowledge of its accurate frequency and distribution in these regions. Thalassemia is a blood disorder that is caused by dna mutations in cells that are responsible for producing haemoglobin. Betathalassemia genetic and rare diseases information. Sekitar 85% sintesis heme terjadi pada selsel prekursor eritoid di sumsum tulang dan. Detection of common deletional alphathalassemia spectrum. Tifs publication on thalassemia awareness and prevention. Semua kondisi di atas berimplikasi pada penurunan kualitas hidup. The main objectives of the seminar were to raise awareness about thalassemia, and to show support and solidarity with those afflicted with thalassemia. There are various severities of the disease from thalassemia majorthe severe form in which the patient needs regular blood transfusions in order to survive, to thalassemia minor an asymptomatic carrier state with patients of thalassemia intermedia in between. Managements allows for normal growth and development, extends the life expectancy into the third. Thalassemia thalassemia is a group of inherited blood disorders which due to defects in the synthesis of globin chains of hemoglobins. About 3% of the worlds population carries gene for betathalassemia. Humans have different hemoglobins at various stages of development.
Application to prenatal diagnosis iswari setianingsih, robert williamson, sangkot marzuk, t alida harahap, t moedrik tamam, susan forrest melbourne, australia. An overview ramesh aggarwal 1, anupam prakash 2, meenakshi aggarwal 3 1 department of medicine, lady hardinge medical college and associated smt. Betathalassemia is a blood disorder that reduces the bodys production of hemoglobin. Awareness among parents of thalassemia major patients. Thalassemia genetic and rare diseases information center. Thalassemia is a disease of the blood in which there is increased destruction hemolysis of the red cells.
Have you come across the term thalassemia or cooleys anemia. Lipoprotein pada anak penyandang thalassemia beta mayor, sari pdf. 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. Distribusi thalasemia mayor di indonesia dapat dilihat pada. Tif publications available at thalassemics india,a9, nizamuddin west new delhi patients rights. Genotypephenotype thalassemia malaysia treatment options pathophysiology of anemia in betathalassemia thalassemia is a disorder of haemoglobin synthesis which is characterized by the absence or reduced synthesis of globin chains, a. The success that has been made in the care of patients with thalassemia has led to the emergence of unrecognized complications including several renal abnormalities. This leads to a reduction in the number and ability of the red blood cells to carry oxygen throughout the body and can cause sufferers to feel symptoms such as fatigue. Treatment with a regular transfusion program and chelating therapy, aimed at reducing the transfusion ironoverload. The thalassemia society pune chapter was founded by patients, parents and friends affected by thalassemia. Thalasemia gejala, penyebab dan mengobati alodokter. Over the years, we have seen significant advances in medical technology, including assessment, monitoring and therapy for thalassemia.
Thalassemia intermedia is a term used to define a group of patients with. It is caused by variant or missing genes that affect how the body make haemoglobin. Knowing the prevalence of thalassemia and the frequency of responsible mutations is therefore an important step. Thalassemia is a group of inherited blood disorders that can be passed from parents to their children and affect the amount and type of hemoglobin the body produces. There are two main forms of betathalassemia, classified based on the severity of. Renal complications of betathalassemia major in children. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body.
The diagnosis is a clinical one that is based on the patient maintaining a satisfactory hemo. Tujuan penelitian untuk mengetahui kadar hemoglobin, status gizi, pola konsumsi makanan dan kualitas hidup anak dengan thalassemia. Slide hemoglobin h disease y second most severe form alpha thalassemia. Ram manohar lohia hospital, new delhi, india 2 department of medicine, lady hardinge medical college and smt. Chronic anemia and iron overload as well as the use of iron chelator are believed to lie behind these abnormalities. Alpha thalassemia trait all red blood cells contain hemoglobin hee muh glow bin, which carries oxygen from your lungs to all parts of your body.
Basic features of thalassemia syndromes transfusion protocols in thalassemia chelation therapy in thalassemia supportive care in thalassemic patients followup guidelines hemtopoitic stem cell transplantation future aspects. A retrospective analysis was conducted on children genetically confirmed with thalassemia at seoul national university childrens hospital in korea. We included patients who diagnosed as thalassemia major with complete data on glucose metabolism, thyroid function, pituitarygonadal axis, bone profile, bone age, and serum ferritin level. 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. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Ntws stimulated all thalassemia associations of india to come on a common platform and created fit federation of indian thalassemics where all thalassemia societies can interact and work for the mutual benefits and common cause at national level. Komaria, komaria and widyastiti, nyoman suci 2011 hubungan antara besi serum dan saturasi transferin dengan kadar hepsidin pada carrier talasemia. Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin the protein in red blood cells that carries oxygen. Thalassemia is the worlds most common hereditary disease and is a paradigm of monogenic genetic disease. Scribd is the worlds largest social reading and publishing site. People with betathalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications. This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. Thalassemias slide 1 by the end of the lecture, the. Vol 8, no 3 2006, thalassemia alfa mayor dengan mutasi nondelesi heterozigot.
Alpha thalassemia thal uh see mee uh trait is a condition that affects the amount of hemoglobin in the red blood cells. Campbell, md louisiana state university health sciences center, new orleans, louisiana t he thalassemias named from the. Pemberian transfusi darah yang terus menerus sering mengakibatkan penimbunan besi dalam tubuh, dan membuat anak putus asa. Kalau sepasang dari mereka menikah, kemungkinan untuk mempunyai anak penderita talasemia berat adalah 25%, 50% menjadi pembawa sifat carrier. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Hemoglobin hb or hgb is a substance present in all red blood cells rbcs. Guidelines for the clinical care of patients with thalassemia in canada. Problems and strategy for prevention and control of thalassemia is described by fucharoen and winichagoon 1992. Preliminary study on thalassemia screening and genetic counseling in selective hmong people in saraburi province, thailand by pa vang, rn, rcs, bsn. The most severe form of alpha thalassemia, alpha thalassemia disease alpha thalassemia major can only happen when both parents have alpha thalassemia trait. Thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. Ntws national thalassemia welfare society ntws is dedicated for the benefit of thalassemic patients and its prevention since 1991. Thalassemia representing the most common monogenetic disorders in the entire world.
Betathalassemia is one of a group of hereditary blood conditions that result from reduced or absent synthesis of the betaglobin chain of the hemoglobin molecule. The guidelines for the clinical care of patients with thalassemia in canada are now available. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal,result in mild or. Thalassemia awareness informatives for eg bookmarks, leaflets and pamphlets. Editor, the article screening for thalassaemia aust prescr 2001.
This was a retrospective study based on the registry database in thalassemia center, jakarta. Kadar hemoglobin, status gizi, pola konsumsi makanan dan. Penderita thalasemia akan melalui transfusi darah berulang untuk menambah sel darah yang kurang. 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.
Thalassemia is an inherited blood disorder wherein the human body is unable to produce adequate amount of hemoglobin in the red blood cells rbc. A major point arises in relation to initial testing and how to identify a suspected carrier. The following table attempts to extrapolate the above prevalence rate for thalassemia to the populations of various countries and regions. There are studies on thalassemia among the sardinian cao et al. Clinical characteristics of pediatric thalassemia in korea. Preliminary study on thalassemia screening and genetic. Few literatures have elaborated on the clinical characteristics of children with thalassemia from lowprevalence areas. Thalassemia is heterogeneous hereditary anemia characterized by a reduced output of. The guidelines offer patients and parents of patients with thalassemia with a concrete document that they can refer to, to both ensureand demandthey receive the best possible care, management, and treatment available. Introduction thalassemia is an inherited disorder of autosomal recessive gene disorder caused by impaired synthesis of one or more globin chains. Nursing guidelines for children suffering from beta. Sk hospital, new delhi, india 3 department of microbiology, lady hardinge medical college and smt.
1210 150 1049 1308 108 692 856 1225 202 1622 100 1334 1501 1204 386 1438 186 1533 382 354 592 1637 361 442 966 1568 623 1058 1580 1181 1288 1571 1505 889 1432 1423 583 713 217 96 114 521 847 150 41 922 1097