Thalassemia is a genetic blood disorder that causes hemoglobin deficiency and severe anemia, starving organs of oxygen, which inhibits their ability to function properly. Beta thalassemia disease can only happen when both parents have beta thalassemia trait. Beta thalassemia specifically, it is characterized by a genetic deficiency in the synthesis of beta globin chains. Impetigo merupakan infeksi bakteri pada kulit dengan jumlah kasus terbanyak pada anak 10% dari seluruh penyakit kulit. Di indonesia banyak dijumpai kasus thalassemia, hal ini disebabkan oleh karena migrasi penduduk dan percampuran penduduk. Hemoroid adalah pelebaran varises satu segmen atau lebih.
Download as docx, pdf, txt or read online from scribd. Beta thalassemia trait and beta thalassemia disease. Care team elliott vichinsky, md medical director, hematology. Introduction thalassemia is an inherited autosomal recessive blood disorder. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal,result in mild or. Pathophysiology and clinical manifestations of the b. Gagal jantung p1g 6300p pdf kongestif adalah ketidakmampuan jantung memompa. Hemoglobins disorder structural abnormalities of globin chains 5. Providers perspectives on treating patients with thalassemia.
It is caused by variant or missing genes that affect how the body make haemoglobin. Penyakit thalassemia pengertian, faktor risiko, penyebab. Sekitar pharmacy education makalah anoreksia cache mirip okt anoreksia adalah kelainan psikis yang diderita seseorang berupa kekurangan nafsu makan meski sebenarnya lapar dan berselera terhadap makalah anak anorexia siap diprint scribd cache mirip mei menjelaskan patofisiologi dari anorexia pada anak tujuan jakarta egc roy anoreksia pdf riichard pdf anoreksia krisnaerawan cache. Highest rates are in the mediterranean, italy, greece, turkey, west asia, north africa, south asian, and southeast asia. Artikel ini memberikan informasi dasar tentang topik owl city fireflies lyrics pdf kesehatan. Thalassemia patofisiologi, diagnosis, penatalaksanaan.
Types thalassemia major cooleys anemia thalassemia minor severe form of beta thalassemia presence of one normal gene and one with a presence of two mutation. Hemoglobin is the protein molecule in red blood cells that carries oxygen. Thalassemia 121129112625 phpapp02 free download as powerpoint presentation. Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Pdf thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. 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. Abses hepar amoebik cara penularan fecaloral menelan kista melalui makananminuman terkontaminasi atau transmisi langsung pada orang dengan higiene buruk. Thalassemia is a hemoglobinopathy that is among the most common inherited disorders of hemoglobin production. There is a 75% or 3 in 4 chance that the baby will not have this disease. Although most are small nucleotide substitutions within the cluster, deletions may also cause b thalassemia. Practice of iron chelation therapy for transfusiondependent. Laboratory diagnosis oflaboratory diagnosis of thalassemia. 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.
Scribd is the worlds largest social reading and publishing site. Perdarahan luka bakar serta penyakit lainnya seperti penyakit paru tbc. Persons with beta thalassemia major require periodic lifelong blood transfusions to maintain hemoglobin levels higher than 9. Beta thalassemia is an inherited hemoglobinopathy in which the production of one or both beta globin chains is impaired. Thalassemia terutama menimpa keturunan italia, yunani, timur tengah, asia dan afrika. Thalassemia intermedia is less clinically severe than betathalassemia major.
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. Impetigo merupakan satu infeksi bakteri superfisial yang disebabkan oleh bakteri streptococcus haemolyticus grup a atau stafilococcus aureus. Pathophysiology and clinical manifestations of the bthalassemias arthur w. Patofisiologi thalassemia mencakup mutasi atau delesi pada gen untuk rantai globin alfa ataupun beta. Laboratory diagnosis of hemoglobinopathies and thalassemia. Complications in thalassaemia patients receiving blood tranfusion hira tahir1,syeda amna shahid1,khawaja tahir mahmood2. Parut ginjal, dan gagal ginjal kronik pielonefritis berulang timbul. By staying committed to longterm treatment, people with thalassemia can enjoy a full life. Beta thalassemia results from mutations in beta genes pathogenesis a result of the free alpha subunits two classes. Thalassemia ternyata tidak saja terdapat di sekitar laut tengah, tetapi juga di asia tenggara yang sering disebut sebagai sabuk thalassemia who, 1983 sebelum pertama sekali ditemui pada tahun 1925 lihat gambar 2.
Beta thalassemia intermedia cooleys anemia foundation. Thalassemia secara umum dapat dibagi menjadi thalassemia alfa dan beta. Artikel ini harus didahului dengan kalimat pembuka. Tif publications include a variety of volumes on the prevention and management of thalassaemia. In hiv infectionp title notemeeting abstracts a single pdf containing. Thalassemias quantitative deficiencies in the production of globin chains 2.
The clinical manifestations include hemolytic anemia and impaired iron handling, the severity of which depends on the degree of impairment in beta globin production. Informasi dalam artikel ini boleh digunakan hanya untuk. Pathophysiology and clinical manifestations of the. The term thalassemia is derived from the greek words thalassa sea and haema blood and refers to disorders associated with defective synthesis of. The normal adult hemoglobin molecule hb a consists of 2 pairs of chains designated alpha and beta. Star figure patofisiologi perubahan patofisilologi pembuluh darah retina pada hipertensi. When there isnt enough hemoglobin, the bodys red blood cells dont function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling.
Thalassemia s are prevalent worldwide with 25,000 deaths in 20. Translations of brochures about thalassemia, thalassemia trait, and hemoglobin h disease are available here in pdf format for the following languages. The spectrum of thalassemias is wide, with one end comprising thalassemia minor, which consists of a mild hypochromic microcytic anemia with. Kedua jenis thalassemia ini diwariskan dengan cara yang sama. 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. Pleno skenario a thalassemia 2012 free download as powerpoint presentation. Thalassemia is a monogenic disease 1, 2 which is common in southeast asia 3, bangladesh, india, and the mediterranean region 4.
However, a recently controlled trial performed in sri lanka suggested that individuals with thalassemia trait may experience symptoms of anemia including. Pada thalassemia alfa, gen untuk terbentuknya rantaii globin alfa adalah yang terpengaruhi, dan kebalikannya untuk thalassemia beta. Zat besi yang diperoleh tubuh dari makanan sehaerusnya digunakan oleh sumsum tulang untuk menghasilkan hemoglobin. Salah satu faktor yang menyebabkan kelahiran bblr adalah pre. This section provides a regular update on the latest developments in the field of clinical trials towards the achievement of the final cure for patients. Patofisiologi thalasemia penyebab anemia pada thalasemia bersifat. Scarica in formato doc, pdf, txt o leggi online su scribd. Anatomi hati hati adalah kelenjar terbesar di dalam tubuh, yang letaknya di rongga perut sebelah kanan atas, di bawah sekat rongga badan atau diafragma. Classification of the common thalassemias and related disorders thalassemia. Current concepts of the genetics of thalassemia donald l. Syok luka bakar syok hiperglikemia syok hipovolemik atau hemoragik. When both parents have beta thalassemia trait, there is a 25% or 1 in 4 chance in each pregnancy for the baby to have beta thalassemia disease. Thalassemia is a blood disorder in which the body makes an abnormal form of hemoglobin.