Thalassemia pada anak scribd pdf

A place for thalassemia patients, family, friends, and medical professionals, to gather for information on thalassemia and related issues. Carrier frequencies of beta thalassemia vary from 1% to 5% while prevalence data for alpha thalassemia are scant. Pada beberapa kasus anemia berulang, diindikasikan pemeriksaan sumsum tulang, pada apusan sumsum tulang sebaiknya diwarnai dengan perwarnaan untuk besi agar dapat menilai cadangan besi dan mendiagnosis adanya anemia sideroblastik. Pada beta thalassemia minor, biasanya tanpa gejala klinis namun terkadang memiliki anemia ringan. The most common severe type in the united states is called cooleys anemia. There is a 75% or 3 in 4 chance that the baby will not have this disease. Thalassemia is the name of a group of genetically inherited blood disorder passed down. Carrier frequencies of betathalassemia vary from 1% to. May 29, 2011 pada umumnya anak dengan penyakit thalassemia mayor tidak akan mencapai usia produktif bahkan mati di dalam kandungan atau mati setelah lahir seperti pada thalassemia. Anak anak ini terlihat pucat, lesu dan mempunyai nafsu makan rendah, sehingga menyebabkan pertumbuhannya terlambat. Keadaan ini sangat memperihatinkan jika anak anak yang lahir tidak akan mencapai usia dewasa, maka generasi berikutnya akan semakin berkurang bahkan. The hematologic findings in thalassemia minor are very similar to those of irondeficiency anemia,3 and folic acid deficiency is a common complication of thalassemia minor. Over the years, we have seen significant advances in medical technology, including assessment, monitoring and therapy for thalassemia.

Beta thalassemia is more common among people of mediterranean, middle eastern, southeast asian, or indian ancestry. Thalassemia patients and friends miscellaneous forums thalassemia associations thalassemia organization in the philippines. Oct 19, 2008 we use your linkedin profile and activity data to personalize ads and to show you more relevant ads. Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis.

Thalassemia diturunkan berdasarkan hukum mendel, resesif atau kodominan. The most severe form of alpha thalassemia, alpha thalassemia disease alpha thalassemia major can only happen when both parents have alpha thalassemia trait. If one parent has the cis form of alpha thalassemia trait, and the other parent is a silent carrier. It is based on those in use at the whittington hospital london document detail document type clinical guideline document name. Based on the defective globin chain, they are classified as either alpha or beta subtypes. Pada dominan beta thalassemia, berbeda dengan pembentukan. It is based on those in use at the whittington hospital london document detail. High prevalence of alpha and betathalassemia in the. Thalassemias are prevalent worldwide with 25,000 deaths in 20. Pada kasus yang jarang, pembesaran lien dapat menjebak sel darah merah dan menghancurkannya sebelum sempat bersirkulasi. The word thalassemia comes originally from the greek. 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.

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. Persons with beta thalassemia major require periodic lifelong blood transfusions to maintain hemoglobin levels higher than 9. Thalasemia merupakan keganasan pada sel darah merah. When both parents have alpha thalassemia trait, there usually is a 25% or 1 in 4 chance in each pregnancy for the baby to have alpha. Apr, 20 penderita penyakit ini memerlukan transfusi darah dan perawatan yang intensif.

Beta thalassemia can be further divided into a heterozygous minor and a homozygous major variant. Aug 23, 2018 thalassemia is a blood disorder that is caused by dna mutations in cells that are responsible for producing haemoglobin. Beta thalassemia trait and beta thalassemia disease. 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. Read personal stories from people living with thalassemia. Alpha thalassemia thal uh see mee uh trait is a condition that affects the amount of hemoglobin in the red blood cells. Thalassemia memiliki dua tipe utama berdasarkan rantai globin yang hilang pada hemoglobin individu yaitu thalassemia. Thalassemia knowledge for medical students and physicians. It is important for people with thalassemia to learn how to stay healthy. Rumah sakit terutama pada mereka yang mempunyai pengaruh kuat unggun gen mongoloid. 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. Whipple and bradford 1936 studied the erythroblastic anemia of cooley and associated pigment anomalies simulating hemochromatosis. May you rest in peace, knowing that your legacy lives on, right here, and through all of us.

Doc asuhan keperawatan thalasemia pada anak yanti goek. Ringkasan adapun langkahlangkah pendekatan diagnostik pucat pada anak. 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. The normal adult hemoglobin molecule hb a consists of 2 pairs of chains designated alpha and beta. Thalassaemia intermedia, guidelines on diagnosis and. Download as pptx, pdf, txt or read online from scribd. Guidelines for the clinical care of patients with thalassemia in canada.

Thalassemias are a heterogeneous group of hereditary blood disorders characterized by faulty globin chain synthesis resulting in defective hemoglobin, which can lead to anemia. Video for youtubevlog video instagram video bumfer video weddingpra wedding video promosi video presentasi video dokumentasi. People with alpha thalassemia trait can have small red blood cells and a low red blood cell count mild anemia. The affected rbcs show microcytosis, hypochromia anisocytosis, poikilocytosis and nucleated rbc. 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. Alpha thalassemia trait normally does not cause any health problems. Thalassemia is an inherited disease of faulty synthesis of hemoglobin. What if one parent has alpha thalassemia trait and the other parent is a silent carrier.

This leads to a reduction in the number and ability of the red blood cells. Penggunaan zat pengikat besi penderita thalassemia mayor anak dengan kadar hemoglo pada penderita thalassemia mayor dapat mengurangi deposit bin ratarata sebelum transfusi pada kelenjar tiroid, sehingga diharapkan dapat memdibandingkan penderita dengan kadar hemoglobin 7 gdl perbaiki pertumbuhan penderita. Alpha thalassemia can be treated with iron only if the person has low iron. Current concepts of the genetics of thalassemia donald l.

Thalassemia medical powerpoint presentation download free. Normally, people have 4 genes for alpha globin with 2 genes on each chromosome aaaa. This paper aims to determine the prevalence of thalassemia in the kadazandusuns, the largest indigenous group in sabah, east malaysia. Thalassemia is a growing global public health problem with an estimated 900,000 births of clinically significant thalassemia disorders expected to occur in the next 20 years 4. Of thalassemia major patients, 28 50% were boys and 28 50% were girls. It is characterized by hb level between 7 and 10 gdl, mcv between 50 and 80 fl and mch between 16 and 24 pg. Real stories from people living with thalassemia cdc. Kondisi ini ditandai oleh anemia yang bergantung pada transfusi, splenomegali masif, kelainan bentuk tulang, keterlambatan pertumbuhan, dan fasies yang khas pada individu yang tidak diobati, 80% di antaranya meninggal dalam 5 tahun pertama kehidupan akibat komplikasi anemia.

The minor variant features only a low risk of hemolysis. 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. Bila kedua orang tua merupakan pembawa maka terdapat resiko 25% pada setiap kehamilan dengan anak yang memiliki thalassemia homozigot hoffman, 2001. Alpha thalassemia should not be treated with iron because it will not help. 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.

Penggunaan zat pengikat besi penderita thalassemia mayor anak dengan kadar hemoglo pada penderita thalassemia mayor dapat mengurangi deposit bin ratarata sebelum transfusi 7 gdl perbaiki pertumbuhan penderita. Beta thalassemia specifically, it is characterized by a genetic deficiency in the synthesis of beta globin chains. By staying committed to longterm treatment, people with thalassemia can enjoy a full life. The name thalassemia was coined by the nobel prize winning pathologist george hoyt whipple 18781976. Abstract thalassemias are genetic disorders inherited from a persons parents. Anakanak yang menderita thalasemia major mulai menunjukkan gejalagejala penyakit ini pada usia dua tahun pertama. Anak anak yang menderita thalasemia major mulai menunjukkan gejalagejala penyakit ini pada usia dua tahun pertama. Hubungankadarhemoglobinsebelumtransfusidanzatpengikatbesid. Asuhan keperawatan thalassemia pada anak data keadaan fisik anak thalasemia. People with hemoglobin h disease can have an enlarged spleen, low red blood. We use your linkedin profile and activity data to personalize ads and to show you more relevant ads. Penderita penyakit ini memerlukan transfusi darah dan perawatan yang intensif. Thalassemia is a genetic disease that results in abnormal globin synthesis, therefore abnormal hemoglobin formation, and microcytic anemia.

Thalassemia organization in the philippines welcome, guest. 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. 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. Sep 29, 2017 thalassemia is a genetic disease that results in abnormal globin synthesis, therefore abnormal hemoglobin formation, and microcytic anemia. Pada umumnya anak dengan penyakit thalassemia mayor tidak akan mencapai usia produktif bahkan mati di dalam kandungan atau mati setelah lahir seperti pada thalassemia. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. 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.

Sep 05, 2010 thalassemia can lead to severe transfusiondependent anemia, and it is the most common genetic disorder in malaysia. Alpha thalassemia is particularly common among people of african, mediterranean, or southeast asian ancestry. This abnormal hemoglobin is reduced in its capacity to transport oxygen around the. 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. It usually appears during the first two years of life. Anakanak ini terlihat pucat, lesu dan mempunyai nafsu makan rendah, sehingga menyebabkan pertumbuhannya terlambat. Thalassemia can lead to severe transfusiondependent anemia, and it is the most common genetic disorder in malaysia. Adult hemoglobin hemoglobin a is made of alpha and beta globins. Feb 27, 2019 beta thalassemia describes a condition of the blood characterized by abnormal hemoglobin in the red blood cells.