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. 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. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal,result in mild or. Kedua jenis thalassemia ini diwariskan dengan cara yang sama. 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. Distinguishing delta thalassemia from beta thalassemia. 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. Finally, healthrelated quality of life is discussed in these patients with a direct comparison to the more severe. Penyakit ini diturunkan oleh orangtua yang memiliki mutated gen atau gen mutasi thalassemia. These conditions cause varying degrees of anemia, which can range from. 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.
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. Pathophysiology and clinical manifestations of the. The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are. Introduction thalassemia is an inherited autosomal recessive blood disorder. The amount of the produced normal hemoglobin within the red blood cells correlates with the severity of. Read personal stories from people living with thalassemia. Thalassemia patofisiologi, diagnosis, penatalaksanaan.
Pada saat molekul hemoglobin mengangkut dan melepas o 2, masingmasing rantai. Hgb constant spring mutation of a chain termination codon causes addition of 31 extra amino acids, resulting in an unstable globin. Beta thalassemia is more common among people of mediterranean, middle eastern, southeast asian, or indian ancestry. Ram manohar lohia hospital, new delhi, india 2 department of medicine, lady hardinge medical college and smt.
The importance of recognizing the existence of delta thalassemia is seen best in cases where it may mask the diagnosis of beta thalassemia trait. Such individuals carry the diagnosis of thalassemia major. Thalassemia involves problems with the production of hemoglobin in red blood cells. Beta thalassemia minor, which is a mild, nontransfusion dependent anemia is caused by a defect in one copy of the beta gene. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. This is a power point presentation titled thalassemia. Thalassemia in children symptoms and treatment see online here thalassemias are a group of inherited disorders that are characterized by decreased production of the alpha or beta globin chains. An overview ramesh aggarwal 1, anupam prakash 2, meenakshi aggarwal 3 1 department of medicine, lady hardinge medical college and associated smt. We do not find the alphathalassemia1 heterozygosity despite the high prevalence of alphathalassemia in the whole country of thailand, 2. Slide hemoglobin h disease y second most severe form alpha thalassemia.
To support and fund thalassemia scientific research, treatment, patient services, public awareness and education. Alpha thalassemia is particularly common among people of african, mediterranean, or southeast asian ancestry. Beta thalassemia is an inherited blood disorder in which the body doesnt make hemoglobin normally. Beta thalassemia is caused by a deficiency of beta globin inherited in an autosomal recessive pattern, which means both copies of the hbb hemoglobin beta gene in each cell have mutationsthe parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Luspatercept increases hemoglobin and decreases transfusion burden in adults with beta thalassemia antonio g. Symptoms soulmates are people with similar symptoms to you. Alpha thalassemia mental retardation syndrome can be caused by a deletion of a significant amount of chromosome 16, affecting the alpha globin genes. A number of genetic mechanisms account for impaired production of. Thalassemia is a group of inherited red blood cell rbc disorders, which involves decreased production of normal adult hemoglobin1 hb a. Thalasemia adalah suatu gangguan darah yang diturunkan ditandai oleh defisiensi produk rantai globulin pada hemoglobin suriadi 2010. 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.
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. Lp askep thalasemia telah kami buat dengan lengkap dari berbagai sumber dan referensi terbaru di dari pengertian, etiologi, patofisiologi, pathway, konsep askep diagnosa dan intervensi untuk membatu temanteman dalam mengerjakan tugas asuhan keperawatan askep di sutau akademinya. 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. Hemoglobin h diseaselike symptoms can also be a part of a unique condition called alpha thalassemia mental retardation syndrome. Get a printable copy pdf file of the complete article 1. Thalassemias are inherited blood disorders characterized by decreased hemoglobin. Real stories from people living with thalassemia cdc. Alpha globin is made by four genes, two on each strand of chromosome.
Thalassemia is an inherited blood disorder that can cause mild to severe anemia. Guidelines for the clinical care of patients with thalassemia in canada. The different types of hemoglobin present at different ages. Scribd is the worlds largest social reading and publishing site. Thalassemia results when mutations affecting the genes involved in hb biosynthesis lead to decreased hb production. Sk hospital, new delhi, india 3 department of microbiology, lady hardinge medical college and smt. Links to pubmed are also available for selected references.
In this type, the lack of beta protein causes no problems in the normal functioning of the hemoglobin. Alphathalassemia is particularly common among people of african, mediterranean, or southeast asian ancestry. The thalassemia foundation of canada values your financial contribution in support of our ongoing projects that reflect our mission statement. The importance of recognizing the existence of delta thalassemia is seen best in cases where it may mask the diagnosis of betathalassemia trait. Pengaruh transfusi sel darah merah terhadap perubahan kadar kalium pada thalassemia mayor t halassemia adalah penyakit herediter.
The pathophysiology of betathalassaemia major europe. Thalassemia is an autosomal recessive hemoglobinopathy that originated in the mediterranean region. As a result, a person with thalassemia doesnt have enough hemoglobin or red blood cells to carry oxygen throughout the body anemia. How i treat thalassemia blood american society of hematology. Jul 15, 2018 lp askep thalasemia telah kami buat dengan lengkap dari berbagai sumber dan referensi terbaru di dari pengertian, etiologi, patofisiologi, pathway, konsep askep diagnosa dan intervensi untuk membatu temanteman dalam mengerjakan tugas asuhan keperawatan askep di sutau akademinya. Less common causes of a gene translation disorders are point mutations, ie. Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. Thalassemia is a genetic blood disorder of two primary types. Original article prevalence of thalassemia traits in. The northern california thalassemia center at ucsf benioff childrens hospital oakland was established in 1991 to deliver comprehensive care to the growing number of thalassemia patients in the region. Betathalassemia constitutes the majority of all thalassemias. It is caused by variant or missing genes that affect how the body make haemoglobin.
The resultant microcytic anemia is the characteristic presenting symptom of the thalassemias. Full text is available as a scanned copy of the original print version. Betathalassemia is more common among people of mediterranean, middle eastern, southeast asian, or indian ancestry. Thalassemias slide 1 by the end of the lecture, the. Alpha thalassemia and beta thalassemia cooleys anemia. Current concepts of the genetics of thalassemia donald l. Athalassemia definition of athalassemia by medical dictionary. Thalassemia medical powerpoint presentation download free.
Thalassemia secara umum dapat dibagi menjadi thalassemia alfa dan beta. Clinical manifestations and diagnosis of the thalassemias uptodate. Luspatercept increases hemoglobin and decreases transfusion. Piga, md1, immacolata tartaglione, md2, rita gamberini, md3, ersi. Isto conduz a uma reducao no numero e na capacidade. Learn more about its symptoms and how its diagnosed. It is caused by one or more of several hundred mutations in the corresponding genes. When we talk about different types of thalassemia, we might be talking about.
Eritrosit dalam darah arteri sistemik mengangkut o 2 dari paru ke jaringan dan kembali dalam darah vena dengan membawa co 2 ke paru. Hemoglobin a hba mencakup 9598% dari seluruh jumlah hemoglobin pada tubuh dan terdiri dari tetramer yang terbuat dari 2 subunit globin alfa dan 2 subunit globin beta. Beta thalassemia occurs when one or both of the two genes that make betaglobin dont work or only partly work. Patofisiologi thalassemia mencakup mutasi atau delesi pada gen untuk rantai globin alfa ataupun beta. 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. Megaloblastic anemias folic acid b 12 deficiencies liver disease reticulocytosis normal newborn bone marrow failure syndromes drugs azt, trimethoprin sulfate. Slide 1 thalassemias slide 2 lecture outline by the end of the lecture, the student should know. Thalassemia in arab populations alpha and betathalassemia are endemic in almost all arab countries probably due to the historical presence of malaria in the region and the high level of consanguinity. Hal ini menyebabkan ketidakseimbangan produksi rantai globin. Thalassemia thal is an autosomal recessive hereditary chronic hemolytic anemia due to a partial or complete deficiency in the synthesis of. Thalassemia adalah penyakit genetik yang diturunkan secara autosomal resesif menurut hukum mendel dari orang tua kepada anakanaknya. Thalassemia termasuk hemoglobinopati djelantik, 1996. Thalassemia syndromes sideroblastic anemia transferrin deficiency 2.
Over the years, we have seen significant advances in medical technology, including assessment, monitoring and therapy for thalassemia. Seorang anak yang mewarisi satu gen mutasi disebut pembawa atau carrier, atau yang disebut juga dengan thalassemia trait sifat thalassemia. We do not find the alpha thalassemia 1 heterozygosity despite the high prevalence of alpha thalassemia in the whole country of thailand, 2. Hbbart hydrops fetalis yang disebabkan oleh delesi ke4 gen globin alpha beberapa jenis penyakit hbh. In betathalassemia, there is an increase in hba2, typically in the range of 46% normal is 23%. Fiftysix patients were followed up with diagnosis of thalassemia major and 11 with thalassemia intermedia. Family history and ancestry are factors which increase the risk of beta thalassemia. Rucknagel department of human genetics, university of michigan medical school, ann arbor, michigan previous contributors to this symposium have defined thalassemia in clinical and hematological terms. Full text full text is available as a scanned copy of the original print version.
Infeksi saluran kemih atau yang sering kita sebut dengan isk adalah istilah. The pathophysiology of betathalassaemia major europe pmc. In beta thalassemia, there is an increase in hba2, typically in the range of 46% normal is 23%. Thalassemia is a blood disorder in which the body makes an abnormal form of hemoglobin. The abnormal hemoglobin can lead to anemia not enough rbcs in the body and other medical problems. Campbell, md louisiana state university health sciences center, new orleans, louisiana t he thalassemias named from the. Find your symptoms soulmates from now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Thalassemia is a blood disorder that is caused by dna mutations in cells that are responsible for producing haemoglobin. 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.
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. Thalassemia in arab populations alpha and beta thalassemia are endemic in almost all arab countries probably due to the historical presence of malaria in the region and the high level of consanguinity. The genetic defect causes a reduction in the rate of globin chain synthesis which causes the formation of abnormal hemoglobin molecules. Athalassemia definition of athalassemia by medical. Ketidakseimbangan rantai globin pada thalassemia akan mempengaruhi kegagalan eritropoeisis dan mempercepat pengrusakan eritrosit. Pdf the thalassemias together with sickle cell anemia and its variants are the worlds most common form of inherited anemia and in. Distinguishing deltathalassemia from betathalassemia. 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. Thalassemia medical powerpoint presentation download. Pdf globin as a molecular target in the treatment of thalassemia. Carrier frequencies of betathalassemia vary from 1% to. Statistics of thalassemia 5 people with thalassemia have taken the sf36 survey. Thalassemias slide 1 by the end of the lecture, the student.
Hemoglobin pada dewasa terdiri dari bentuk a, a2 dan f fetal. Original article prevalence of thalassemia traits in people. Pada thalassemia alfa, gen untuk terbentuknya rantaii globin alfa adalah yang terpengaruhi, dan kebalikannya untuk thalassemia beta. Carrier frequencies of beta thalassemia vary from 1% to 5% while prevalence data for alpha thalassemia are scant. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal,result in mild or severe anemia. There are two basic groups of thalassemia disorders. The thalassemia syndrome is classified according to which of the globin chains. The albion walter hewlett award named for professor of medicine and chair of the stanford department of medicine 19161925 recognizes a role model, accomplished in discovery of the biological sciences and at the same time a consummate and compassionate physician. Hemoglobin is the part of red blood cells rbcs that carries oxygen throughout the body. This is usually not inherited, but rather occurs sporadically in. It is important for people with thalassemia to learn how to stay healthy. Depending on the type of beta thalassemia, symptoms.
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