Thalassemia pada anak pdf merge

Abstract thalassemias are genetic disorders inherited from a persons parents. Kalau sepasang dari mereka menikah, kemungkinan untuk mempunyai anak penderita. Pdf bthalassemia major is a genetic disease and a decline in production due to. Thalassemia thalassemia is a group of inherited blood disorders which due to defects in the synthesis of globin chains of hemoglobins. Read personal stories from people living with thalassemia. We have put the relevent points to be covered while taking the case. A normal hemoglobin molecule is made up of two identical beta and two.

Kondisi ini tidak terdapat rantai globin yang dibentuk sehingga tidak ada hba atau hbf yang diproduksi. Alpha thalassemia thal uh see mee uh trait is a condition that affects the amount of hemoglobin in the red blood cells. Real stories from people living with thalassemia cdc. Betathalassemia is one of a group of hereditary blood conditions that result from reduced or absent synthesis of the betaglobin chain of. Thalasemia tipe ini merupakan kondisi yang paling berbahaya pada thalassemia tipe alfa. Slide hemoglobin h disease y second most severe form alpha thalassemia. What if one parent has alpha thalassemia trait and the other parent is a silent carrier. He was a known case of homozygous beta thalassemia major.

Pengaruh transfusi sel darah merah terhadap perubahan kadar kalium pada pasien thalassemia mayor. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. Carrier frequencies of betathalassemia vary from 1% to 5% while prevalence data for alphathalassemia are scant. Beta thalassemia is a group of genetic blood disorders that share in common the defective production of hemoglobin, similar to sickle cell. Individuals with beta thalassemia trait or beta thalassemia minor are. Without enough hemoglobin, red blood cells do not develop normally which leads to anemia as well as a lack of oxygen supply to the body. Ismail, akm mahbub hasan, hossain uddin shekhar int j hematol oncol stem cell res. Thalassemia, extramedullary hematopoiesis, and spinal cord.

Learn about symptoms, treatment, who is a carrier, and diagnosis for beta thalassemia. There is a 75% or 3 in 4 chance that the baby will not have this disease. 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. Fiftysix of the patients were followed up with diagnoses of thalassemia major and 11 with thalassemia intermedia. Bila kedua orang tua merupakan pembawa maka terdapat resiko 25% pada setiap kehamilan dengan anak yang memiliki thalassemia homozigot hoffman, 2001. Beta thalassemia trait and beta thalassemia disease. Pada talasemia terjadi kelainan pada gengen yang mengatur pembentukan dari rantai. Introduction thalassemia is an inherited autosomal recessive blood disorder. Beta thalassemia minor, which is a mild, nontransfusion dependent anemia is caused by a defect in one copy of the beta gene. Persons with beta thalassemia major require periodic lifelong blood transfusions to maintain hemoglobin levels higher than 9. If you want to view it in full screen, click on the square icon in the slide show above or click here sample picture from the slide show.

Normally, people have 4 genes for alpha globin with 2. Scribd is the worlds largest social reading and publishing site. Peripheral smear in betazero thalassemia minor showing microcytes m, target cells t, and poikilocytes. We use your linkedin profile and activity data to personalize ads and to show you more relevant ads. It can be prevented if one parent has normal genes, giving rise to screenings that empower carriers to select partners with normal hemoglobin. Guidelines for the clinical care of patients with thalassemia in canada. 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. Pain was reported in 31% of pediatric patients compared to 72% of patients aged 18 years and older p intermedia.

Pada beta thalassemia minor, biasanya tanpa gejala klinis namun terkadang memiliki anemia ringan. Thalassemia, extramedullary hematopoiesis, and spinal cord compression. Thalassemia is often accompanied by the destruction of a large number of red blood cells and the task of removing these cells causes the spleen to enlarge. If the pdf documents have different page sizes, you can keep the original. Humans have different hemoglobins at various stages of development. Thalassemias slide 1 by the end of the lecture, the. Thalassemia womens and infants health at mount sinai. Learning pada peserta didik pendidikan anak usia dini mekar sari karangsambung kebumen oleh dyah permatasari pancawardani nim.

Hematological and biochemical status of betathalassemia major patients in bangladesh. A study aimed at detecting the genes that could give rise to offspring with. The thalassemia support foundation tsf is a nonprofit organization that was founded by patients, parents, and friends affected by thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Thalassemia is not one disease but rather a group of genetic disorders that have a single feature in common. Thalassemias are prevalent worldwide with 25,000 deaths in 20. Severe enlargement of the spleen may necessitate its removal. Adult hemoglobin hemoglobin a is made of alpha and beta globins.

Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. It is based on those in use at the whittington hospital london document detail. Pada dominan beta thalassemia, berbeda dengan pembentukan. Thalassemia minor also called thalassemia trait may cause no symptoms, but mild anemia and other changes in the blood do occur. 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 most common severe type in the united states is called cooleys anemia.

A recent study in india showed that the overall prevalence of. Thalassemia minor definition of thalassemia minor by. 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. People with thalassemia make less haemoglobin and fewer circulating red blood cells than. Thalassaemia is a genetic blood disorder caused by the haemoglobin, a substance. 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. Complications in thalassaemia patients receiving blood tranfusion hira tahir1,syeda amna shahid1,khawaja tahir mahmood2. Pregnant women with thalassemia require regular antenatal care with the maternal and child clinic and combine care with the haematologist. 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.

Beta thalassemia minor or thalassemia minor, a rare genetic blood disorder, is a defect in the synthesis of beta chains of hemoglobin a protein that carries oxygen to the tissues. Normal hemoglobin consists of two alpha chains and two beta chains. 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. Of thalassemia major patients, 28 50% were boys and 28 50% were girls.

Thalassemia medical powerpoint presentation download. Analisis faktor yang berhubungan dengan self care behavior pada anak usia sekolah. Introduction to alpha thalassaemia city hospital, birmingham. Pada anak anak atau neonatus akan timbul hambatan pada pertumbuhan, hernia umbilikalis, neonatal jaundice dengan jangka waktu yang lebih lama, penurunan nafsu makan, serta maturasi tulang yang lambat. Mengonsumsi makanan yang bergizi sangat diperlukan oleh anak anak penderita thalassemia. People with hemoglobin h disease can have an enlarged spleen, low. The most severe form of alpha thalassemia, alpha thalassemia disease alpha thalassemia major can only happen when both parents have alpha thalassemia trait. It is important for people with thalassemia to learn how to stay healthy. Janin yang menderita alpha thalassemia mayor pada awal. Introduction to alpha thalassaemia page 1 many people originating from the mediterranean area, the middle east, africa or asia carry thalassaemia. It usually appears during the first two years of life.

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. Selain itu, pembesaran limpa juga menyebabkan turunnya napsu makan. Thalassemia is a group of inherited blood diseases that affect a persons ability to produce hemoglobin in red blood cells. Beta thalassemia disease can only happen when both parents have beta thalassemia trait. He was continent for urine and stool and anal tone was normal. Doc asuhan keperawatan thalasemia pada anak yanti goek. It is common in these regions because it helps to protect carriers against some types of malaria. Alfa thalassemia mayor gangguan pada 4 rantai globin alpha. Hemoglobin is a protein in the red blood cell that carries oxygen throughout the body. Expressed as a mild microcytic, hypochromic anemia, usually in the 10 gdl range.

Video for youtube vlog video instagram video bumfer video weddingpra wedding video promosi video presentasi video dokumentasi. And with your help and support, we can make that a reality. Most children with thalassemia major appear healthy at birth but, during the first year or two of life, they become. Beta thalassemia major is a lifelong blood disorder that decreases the production of hemoglobin.

Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood cells. Thalasemia merupakan penyakit kelainan darah yang secara genetik. Pdf thalassemia has been described originally around the mediterranean sea. The genetic defect usually is a missense or nonsense mutation in the betaglobin gene, although occasional defects due to gene deletions of the betaglobin gene and surrounding regions also have been reported. Unlike thalassemia major, thalassemia minor has only one defective beta globin gene. All forms of hemoglobin are made up of two molecules.

Thalasemia merupakan keganasan pada sel darah merah. Faktorfaktor yang berhubungan dengan kualitas hidup anak thalasemia beta mayor. Namun seberapa anak besar prevalensi carrier tersebut pada berbagai populasi di indonesia belum pernah dilaporkan secara rinci. 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. Beta thalassemia major texas department of state health. Talasemia wikipedia bahasa indonesia, ensiklopedia bebas. 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. It is caused by variant or missing genes that affect how the body make haemoglobin. Pasien thalassemia biasanya mempunyai postur tubuh yang kecil, kurus juga pendek, hal ini dapat diakibatkan karena kekurangan oksigen yang terjadi terusmenerus pada jaringan.