Pada negara tropikal membangun, elektroporesis bisa juga mendeteksi hb c, hb s dan hb j wiwanitkit, 2007. Jude childrens research hospital, memphis, tennessee 38105 2department of pediatric oncology, danafarber cancer institute, and the division of hematology and oncology, childrens hospital, boston, massachusetts 02215. Thalassemia is seemingly the most common genetic abnormality in the world. Betathalassemia trait is found in individuals where there is only one hbb gene mutation in each cell possess mild anaemia. Nhs sickle cell and thalassaemia screening programme 7 trusts merge the high prevalence algorithm should be used. 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. Hemoglobin pada dewasa terdiri dari bentuk a, a2 dan f fetal.
Patients with severe beta thalassemia are dependent on red cell transfusions either regularly thalassemia major or intermittently thalassemia intermedia. Pathophysiology and clinical manifestations of the. Alphathalassemia is particularly common among people of african, mediterranean, or southeast asian ancestry. Beta thalassemia is an inherited hemoglobinopathy in which the production of one or both beta globin chains is impaired. 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. Complications in thalassaemia patients receiving blood tranfusion hira tahir1,syeda amna shahid1,khawaja tahir mahmood2. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. This is usually not inherited, but rather occurs sporadically in. Pathophysiology and clinical manifestations of the bthalassemias arthur w.
Eritrosit dalam darah arteri sistemik mengangkut o 2 dari paru ke jaringan dan kembali dalam darah vena dengan membawa co 2 ke paru. Beta thalassemia is more common among people of mediterranean, middle eastern, southeast asian, or indian ancestry. Current concepts of the genetics of thalassemia donald l. Pathophysiology and clinical manifestations of the bthalassemias. Thalassemias national heart, lung, and blood institute. Alpha thalassemia nord national organization for rare. The increase in number of patients with thalassemia living in california highlights the importance of provider knowledge about thalassemia in order to effectively serve these patients in their communities. 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. Nutrition and diet northern california comprehensive thalassemia center thalassemia centers for disease control and prevention thalassemia. 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. Thalassemia results when mutations affecting the genes involved in hb biosynthesis lead to decreased hb production.
This is called the cis form of alpha thalassemia trait. Confirmation of alphathalassemia trait can be hard, since hb electrophoresis is normal, but commercially available polymerase chain reaction pcr screening for. Patofisiologi thalassemia mencakup mutasi atau delesi pada gen untuk rantai globin alfa ataupun beta. Thalassemia australia pdf ppt case reports symptoms.
Over the years, we have seen significant advances in medical technology, including assessment, monitoring and therapy for thalassemia. Betathalassemia major and betathalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the hbb gene in each cell have mutations. If desired, the diagnosis of beta thalassemia trait can be confirmed with quantitative hemoglobin studies. Finally, healthrelated quality of life is discussed in these patients with a direct comparison to the more severe. Hemoglobin h diseaselike symptoms can also be a part of a unique condition called alpha thalassemia mental retardation syndrome. 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. Alpha thalassemia thal uh see mee uh trait is a condition that affects the amount of hemoglobin in the red blood cells. For instance, if a person receives a beta thalassemia trait from his father and another from his mother, he will have beta thalassemia major. Thalassemia is an inherited disease of faulty synthesis of hemoglobin. Thalassemias occur most often among people of italian, greek. Beta thalassemia minor, which is a mild, nontransfusion dependent anemia is caused by a defect in one copy of the beta gene.
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 clinical manifestations include hemolytic anemia and impaired iron handling, the severity of which depends on the degree of impairment in beta globin production. 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. Beta thalassemia is an inherited blood disorder in which the body doesnt make hemoglobin normally. People with alpha thalassemia trait do not develop hemoglobin h disease or hydrops fetalis later in life. Beta thalassemia trait is found in individuals where there is only one hbb gene mutation in each cell possess mild anaemia. Thalassemia trait is commonly detected when routine peripheral blood smear and complete blood count show microcytic anemia and elevated red cell count. Thalassemias slide 1 by the end of the lecture, the student. The trans and cis types of alpha thalassemia trait are found most often in people whose ancestors come from southeast asia, southern china, the mediterranean, and the middle east. Rucknagel department of human genetics, university of michigan medical school, ann arbor, michigan previous contributors to this symposium have defined thalassemia in. Thalassemias slide 1 by the end of the lecture, the. Pada thalassemia alfa, gen untuk terbentuknya rantaii globin alfa adalah yang terpengaruhi, dan kebalikannya untuk thalassemia beta.
Pengobatan penyakit thalassemia sampai saat inibelum sampai pada tingkat penyembuhantransplantasi sumsum tulang. In betathalassemia major sometimes called cooley anemia, people have severe symptoms of anemia, such as fatigue, weakness, and shortness of breath, and they may also have jaundice, causing yellowing of the skin and whites of the eyes, skin ulcers, and gallstones. 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. What if one parent has alpha thalassemia trait and the other parent is a silent carrier. Alpha thalassemia results from large deletions in the alpha genes. High prevalence trusts are considered high prevalence if 2% or more of the booking bloods are. This kind of thalassemia is so serious that it needs frequent blood transfusions. It effects as many as 1 in 30 pregnancies in china, india, and pakistan, 1 in 100 pregnancies in thailand, and 1 in pregnancies in northern europe and the united states.
Thalassemia termasuk hemoglobinopati djelantik, 1996. This leads to a reduction in the number and ability of the red blood cells. Jude childrens research hospital, memphis, tennessee 38105 2department of pediatric oncology, danafarber cancer institute, and the division of hematology and. Thalassemia is due to a deficit or absent production of. Each red blood cell may contain between 240 and 300 million molecules of hemoglobin. Family history and ancestry are factors which increase the risk of beta thalassemia. 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.
Such individuals carry the diagnosis of thalassemia major. Alpha thalassemia pregnancies are rising in north america and require prenatal counseling, overall community education, and welldeveloped intrauterine management plans. Feb 26, 2019 please use one of the following formats to cite this article in your essay, paper or report. Betathalassemia genetic and rare diseases information. 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. 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.
Athalassemia definition of athalassemia by medical. 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. Laboratory diagnosis of hemoglobinopathies and thalassemia. Aug 09, 2019 the increase in number of patients with thalassemia living in california highlights the importance of provider knowledge about thalassemia in order to effectively serve these patients in their communities. 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. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. Guidelines for the clinical care of patients with thalassemia in canada. If one parent has the cis form of alpha thalassemia trait, and the other parent is a silent carrier.
Thalassemias are inheritedthat is, the genes for the disorders are passed from parents to their children. Proses pembuahan, anak hanya mendapat sebelah gen globin beta dari ibunya dan sebelah lagi dari ayahnya. There are two basic groups of thalassemia disorders. In beta thalassemia major sometimes called cooley anemia, people have severe symptoms of anemia, such as fatigue, weakness, and shortness of breath, and they may also have jaundice, causing yellowing of the skin and whites of the eyes, skin ulcers, and gallstones. Thalassemia nearly 200 different mutations have been described in patients with bthalassemia and related disorders. The name is derived from the greek word thalassa meaning the sea because the condition was first described in populations living near the mediterranean sea. Athalassemia definition of athalassemia by medical dictionary. This is a power point presentation titled thalassemia. Thalassemia womens and infants health at mount sinai. Thalassemia is a blood disorder that is caused by dna mutations in cells that are responsible for producing haemoglobin.
The different types of hemoglobin present at different ages. Thalassemia patofisiologi, diagnosis, penatalaksanaan. Scribd is the worlds largest social reading and publishing site. Healthy living centers for disease control and prevention also in spanish. If both parents have the trans form of alpha thalassemia trait. Slide hemoglobin h disease y second most severe form alpha thalassemia. Alpha thalassemia is a general term for a group of inherited blood disorders characterized by reduced or absent production of alphaglobin subunits, resulting in low levels of hemoglobin that is otherwise fully functional. Thalassemia thalassemia is an inherited blood related disorder due to absent or reduced production of hemoglobin, a protein present in red blood cells responsible for carrying oxygen through the body. 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.
Number of newly diagnosed thalassaemia major cases per annum. Thalassemia intermedia is a less serious kind of betathalassemia and do not require the patient to go through blood transfusions. Thalassemia medical powerpoint presentation download. Betathalassemia is more common among people of mediterranean, middle eastern, southeast asian, or indian ancestry. Thalassemia intermedia is a less serious kind of beta thalassemia and do not require the patient to go through blood transfusions. Please use one of the following formats to cite this article in your essay, paper or report. Alpha thalassemia is particularly common among people of african, mediterranean, or southeast asian ancestry. Alpha thalassemia trait normally does not cause any health problems. Aug 23, 2018 thalassemia is a blood disorder that is caused by dna mutations in cells that are responsible for producing haemoglobin.
Pathophysiology and clinical manifestations of the b. 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. In this type, the lack of beta protein causes no problems in the normal functioning of the hemoglobin. Hemoglobin is the part of red blood cells rbcs that carries oxygen throughout the body. Nilai abnormal bisa digunakan untuk diagnosis thalassemia seperti pada thalassemia minor hb a2 45. Real stories of people living with thalassemia centers for disease control and prevention also in spanish. Thalassemia secara umum dapat dibagi menjadi thalassemia alfa dan beta. Carrier frequencies of beta thalassemia vary from 1% to 5% while prevalence data for alpha thalassemia are scant. Thalassemia minor also called thalassemia trait may cause no symptoms, but mild anemia and other changes in the blood do occur. Dec 16, 2019 patients with severe beta thalassemia are dependent on red cell transfusions either regularly thalassemia major or intermittently thalassemia intermedia. Pada saat molekul hemoglobin mengangkut dan melepas o 2, masingmasing rantai. Symptoms soulmates are people with similar symptoms to you. Fiftysix patients were followed up with diagnosis of thalassemia major and 11 with thalassemia intermedia. The thalassemias are a group of disorders in which the normal ratio of alpha globin to beta globin production is disrupted due to a diseasecausing variant in one or more of the globin genes.
In all cases a failsafe system must be in place to make sure all eligible women have been offered screening, and those that accept are tested. Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. Hbbart hydrops fetalis yang disebabkan oleh delesi ke4 gen globin alpha beberapa jenis penyakit hbh. These conditions cause varying degrees of anemia, which can range from. When two carriers have children, each child has a 25% 1 in 4 chance to be. The abnormal hemoglobin can lead to anemia not enough rbcs in the body and other medical problems.
Nhs sickle cell and thalassaemia screening programme. Alpha thalassemia mental retardation syndrome can be caused by a deletion of a significant amount of chromosome 16, affecting the alpha globin genes. If your parents have missing or altered hemoglobinmaking genes, you may have thalassemia. Find your symptoms soulmates from now on you can add your symptoms in diseasemaps and find your symptoms soulmates. 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. Satu dari orang tua menderita thalasemia traitbawaan maka kemungkinan 50% sehat dan 50% thalasemia trait. Campbell, md louisiana state university health sciences center, new orleans, louisiana t he thalassemias named from the. People with hemoglobin h disease can have an enlarged spleen, low red blood. Individuals with alpha thalassemia, particular the intermediate or severe forms, will benefit from referral to a thalassemia treatment center. These carriers may be still easily identified because they have the typical increase of hba 2 levels. Thalassemias blood disorders merck manuals consumer version.
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