Disusun oleh:PERPUSTAKAAN NEGARA MALAYSIA

PAKEJAN MAKLUMAT

TlllSEMl1

lSI KANDUNGAN

ISI KANDUNGAN  

1. PENGENALAN

2. SUMBER : MONOGRAF

3. SUMBER : JURNAL / MAJALAH

4. SUMBER : INTERNET

5. SUMBER : ELEKTRONIK

6. RUJUKAN

SENARAIKANDUNGAN

SENARAI KANDUNGAN

1. Pengenalan

2. Sumber Monograf 2.1 Diagnosis Pranatal Talasemia di Malaysia 2.2 Buletin IMR – Pengesanan Mutasi Pada Gen Beta Globin Melalui Teknik

Nonradioaktif 2.3 Guidelines For The Management Of Thalassaemia 2.4 Penyakit Darah Jilid 1 (Sel Darah Merah dan Penyakit-penyakitnya)

3. Sumber Jurnal & Majalah

3.1 Dewan Kosmik

Thalassemia, penyakit genetik paling kerap

3.2 Ibu Talasemia perlukan rawatan sepanjang hayat Penyebab Talasemia

3.3 Maskulin Thalassaemia penyakit genetik warisan keluarga

3.4 Seri Dewi & Keluarga Talassemia-Penyakit baka musnahkan sel darah merah

3.5 iremaja Jangan abaikan pesakit Talasemia

3.6 Jelita Derita cinta Thalassemia

3.7 Mingguan Wanita Apa itu penyakit Talasemia?

3.8 Wanita Hanya bakal pengantin mampu atasi zuriat daripada hidapi Talasemia

3.9 Perempuan Talasemia bawaan keturunan

3.10 Ibu Kenali tanda awal Talasemia

3.11 Dewan Siswa Beta Thalassemia

4. Sumber Internet 4.1 Mengenai MyTalasemia 4.2 Talasemia 4.3 About Thalassaemia 4.4 Thalasemia

5. Sumber Elektronik

5.1 Utusan Malaysia

- Jangan wariskan Talasemia - Fahami cara talasemia diwarisi - Awas ancaman serius talasemia -Kaedah baru rawat talasemia -Sabah catat kadar talasemia tertinggi -Penghidap talasemia bertambah -Harapan baru pesakit talasemia -Sumbangan amal untuk pesakit talasemia -Pesakit perlu RM7.2j sebulan -Rosnah harap Puteri BN jadi kenyataan -Derita Mohd. Amirol -Talasemia : Lakukan ujian darah -Thalassemia – Mohd. Cari penawar dua anak -Apa itu talasemia -Talasemia – Derita sepanjang hayat -Beban penghidap talasemia – Sempena sambutan Hari Talasemia Antarabangsa ke-11 -Talasemia : Natasya perlu bantuan -Ujian darah kesan talasemia -Ujian darah – Elak talasemia diwarisi -Pesakit talasemia- Perlu sokongan jalani kehidupan sempurna

5.2 Nst emedia

‐ Dukung anak 10km ke HKL ‐ Pakar syor wajib periksa thalasemia ‐ Kumpul dana thalassemia ‐ Kempen saringan darah ‐ Merawat talasemia ‐ Saringan talasemia percuma untuk pelajar ‐ Subsidi pesakit talasemia ‐ RM29.5 juta kawal, rawat thalassemia ‐ RM25.5j kawal thalassaemia

‐ Sinar baru rawat talasemia ‐ Perkahwinan sesame talasemia patut dielak ‐ Daftar Thalassemia Kebangsaan tahun depan ‐ Talasemia…penyakit keturunan, gangguan pembentukan sel darah ‐ Talassemia gangguan genetik darah ‐ Ashraf aktif walaupun ada talasemia ‐ Genetik punca talasemia ‐ Seksa talassemia ‐ Talassemia diwarisi ‐ Derita Talasemia ‐ Orang ramai diminta jalani ujian kesan thalassemia

6. Rujukan

PENGENALAN

Talasemia

Talasemia (bahasa Inggeris: Thalassaemia) adalah penyakit kecacatan darah. Talasemia merupakan keadaan yang diwarisi, iaitu diwariskan dari keluarga kepada anak. Kecacatan gen menyebabkan hemoglobin dalam sel darah merah menjadi tidak normal. Mereka yang mempunyai penyakit Talasemia tidak dapat menghasilkan hemoglobin yang mencukupi dalam darah mereka. Hemoglobin adalah bahagian sel darah merah yang mengangkut oksigen daripada paru-paru keseluruh tubuh. Semua tisu tubuh manusia memerlukan oksigen. Akibat kekurangan sel darah merah yang normal akan menyebabkan pesakit kelihatan pucat kerana paras hemoglobin (Hb) yang rendah (anemia).

Sel darah merah bertugas membekalkan oksigen kepada tisu dalam badan manusia. Kekurangan sel darah merah bagi membekalkan oksigen akan mengakibatkan pesakit talasemia berasa lesu, tidak bermaya, dan mungkin sesak nafas sekiranya paras hemoglobin semakin menurun.

Mereka yang mengidap Thalassaemia tidak mampu membekalkan seluruh sel tubuh mereka denga bekalan oksigen yang mencukupi akibat kekurangan hemoglobin dalam sel darah merah. Tisu yang ketiadaan oksigen gagal berfungsi dengan baik. Dengan itu tubuh mereka menjadi lemah, gagal berkembang dengan baik, dan mereka boleh menjadi sakit teruk.

Pesakit Talasemia biasanya mempunyai paras hemoglobin yang rendah iaitu kurang daripada 10g/dl. Mereka yang mengidap Talasemia mempunyai kelebihan melawan penyakit Malaria.

Isi kandungan

• 1 Jenis Talasemia • 2 Pembawa Malaysia • 3 Pesakit Talasemia • 4 Tanda dan gejala penyakit Talasemia • 5 Rawatan penyakit Talasemia • 6 Saringan Talasemia • 7 Persatuan Talasemia Malaysia • 8 Pautan luar

Jenis Talasemia

Terdapat dua jenis Talasemia iaitu:

• Talasemia minor : Talasemia minor merujuk kepada mereka yang mempunyai kecacatan gen talasemia tetapi tidak menunjukkan tanda-tanda talasemia atau pembawa.

• Talasemia major : Talasemia major merujuk kepada mereka yang mempunyai baka talasemia sepenuhnya dan menunjukkan tanda-tanda talasemia.

Pembawa Malaysia

Biasanya penghidap Talasemia tidak menunjukkan apa-apa tanda atau masalah kesihatan. Pengesanan hanya boleh menurunkan gen Talasemia kepada anak-anaknya. Sekiranya salah seorang ibu atau bapa adalah pembawa, keadaan berikut boleh berlaku. Peratusan risiko untuk setiap kehamilan; — 50% kemungkinan adalah pembawa — 50% kemungkinan adalah normal — Tiada anak yang menghidap Talasemia(talasemia major)

Pesakit Talasemia

Sekiranya kedua-dua ibu dan bapa adalah pembawa keadaan berikut boleh berlaku; — 25% kemungkinan anak mereka adalah pesakit Talasemia — 50% kemungkinan anak mereka adalah pembawa — 25% kemungkinan anak mereka adalah normal

(Nota: Pesakit Talasemia biasanya mempunyai paras hemoglobin yang rendah iaitu kurang daripada 10g/dl.)

Tanda dan gejala penyakit Talasemia

• Biasanya anak-anak pembawa Talasemia kelihatan normal sewaktu dilahirkan. Bagaimanapun, mereka akan mulai mengalami masalah anemia yang serius apabila mencapai usia di antara 13 hingga 18 bulan.

• Tubuh pucat,lemah, dan gelisah. • Anemia yang serius bisa menyebabkan sulit bernafas. • Perut buncit disebabkan pembengkakan hati dan limpa.<br. • Perubahan pembentukan tulang muka, pipi, dan rahang yang tidak normal(tanda lewat).

Rawatan penyakit Talasemia

• Pesakit perlu menjalani transfusi darah berterusan setiap bulan. • Transfusi darah berterusan akan menyebabkan pengumpulan zat besi di dalam organ

penting badan seperti hati, jantung, dan kelenjar endokrin yang akhirnya merosakkan fungsi organ-organ tersebut.

• Rawatan penyingkiran zat besi berlebihan perlu dilakukan dengan suntikan ubat Desferrioxamine.

• Pemindahan sum-sum tulang sekiranya ada penderma yang sesuai di kalangan keluarga.

Saringan Talasemia

Saringan ujian darah untuk Talasemia boleh dijalankan di semua klinik dan hospital, sama ada kerajaan atau swasta. Jalanilah ujian darah tersebut untuk mengetahui status penyakit anda. Pesakit Talasemia memerlukan transfusi darah setiap bulan. Tanpa rawatan yang sempurna, beberapa komplikasi boleh berlaku dan lazimnya mereka akan meninggal dunia di usia remaja.

Persatuan Talasemia Malaysia

Projek Persatuan Talasemia Malaysia untuk menghubungkan para pesakit talasemia, ibu bapa, dan penjaga dengan anggota komuniti terpinggir (contohnya, komuniti luar bandar). Tujuannya untuk meningkatkan pengetahuan masyarakat tentang penyakit berkenaan, mewujudkan hubungan dua hala yang interaktif dengan mewujudkan pangkalan data yang memudahkan kajian dan pembentukan polisi.

Sumber : http://www.wikipedia.org Tarikh Akses : 17 Februari 2011

Thalassemia From Wikipedia, the free encyclopedia

Thalassemia (also spelled thalassaemia) is an inherited autosomal recessive blood disease. In thalassemia the genetic defect, which could be either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin. This can cause the formation of abnormal hemoglobin molecules, thus causing anemia, the characteristic presenting symptom of the thalassemias.

Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a hemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin. Thalassemias usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves.[1] The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some thalassemias are hemoglobinopathies, but most are not. Either or both of these conditions may cause anemia.

The two major forms of the disease, alpha- and beta- (see below), are prevalent in discrete geographical clusters around the world - probably associated with malarial endemicity in ancient times. Alpha is prevalent in peoples of Western African descent, and is nowadays found in populations living in Africa and in the Americas. Beta is particularly prevalent among Mediterranean peoples, and this geographical association was responsible for its naming: Thalassa (θάλασσα) is Greek for the sea, Haema (αἷμα) is Greek for blood. In Europe, the highest concentrations of the disease are found in Greece, coastal regions in Turkey, in particular, Aegean Region such as Izmir, Balikesir, Aydin, Mugla and Mediterranean Region such as Antalya, Adana, Mersin, in parts of Italy, in particular, Southern Italy and the lower Po valley. The major Mediterranean islands (except the Balearics) such as Sicily, Sardinia, Malta, Corsica, Cyprus and Crete are heavily affected in particular. Other Mediterranean people, as well as those in the vicinity of the Mediterranean, also have high rates of thalassemia, including people from the West Asia and North Africa. Far from the Mediterranean, South Asians are also affected, with the world's highest concentration of carriers (16% of the population) being in the Maldives.

The thalassemia trait may confer a degree of protection against malaria, which is or was prevalent in the regions where the trait is common, thus conferring a selective survival advantage on carriers (known as heterozygous advantage), and perpetuating the mutation. In that respect the various thalassemias resemble another genetic disorder affecting hemoglobin, sickle-cell disease.[2]

Contents

• 1 Pathophysiology o 1.1 Alpha (α) thalassemias o 1.2 Beta (β) thalassemias o 1.3 Delta (δ) thalassemia o 1.4 In combination with other hemoglobinopathies

• 2 Cause • 3 Treatment

o 3.1 Medication o 3.2 Carrier detection

• 4 Epidemiology • 5 Benefits • 6 References • 7 External Links

Pathophysiology

Normal hemoglobin is composed of two chains each of α and β globin. Thalassemia patients produce a deficiency of either α or β globin, unlike sickle-cell disease which produces a specific mutant form of β globin.

The thalassemias are classified according to which chain of the hemoglobin molecule is affected. In α thalassemias, production of the α globin chain is affected, while in β thalassemia production of the β globin chain is affected.

β globin chains are encoded by a single gene on chromosome 11; α globin chains are encoded by two closely linked genes on chromosome 16. Thus in a normal person with two copies of each chromosome, there are two loci encoding the β chain, and four loci encoding the α chain. Deletion of one of the α loci has a high prevalence in people of African or Asian descent, making them more likely to develop α thalassemias. β thalassemias are common in Africans, but also in Greeks and Italians.

Alpha (α) thalassemias Main article: Alpha-thalassemia

The α thalassemias involve the genes HBA1[3] and HBA2,[4] inherited in a Mendelian recessive fashion. There are two gene loci and so four alleles. It is also connected to the deletion of the 16p chromosome. α thalassemias result in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of β chains in adults and excess γ chains in newborns. The excess β chains form unstable tetramers (called Hemoglobin H or HbH of 4 beta chains) which have abnormal oxygen dissociation curves.

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α and β thalassemia are often inherited in an autosomal recessive fashion although this is not always the case. Cases of dominantly inherited α and β thalassemias have been reported, the first of which was in an Irish family who had a two deletions of 4 and 11 bp in exon 3 interrupted by an insertion of 5 bp in the β-globin gene. For the autosomal recessive forms of the disease both parents must be carriers in order for a child to be affected. If both parents carry a hemoglobinopathy trait, there is a 25% chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families that carry a thalassemia trait.

There are an estimated 60-80 million people in the world who carry the beta thalassemia trait alone.[citation needed] This is a very rough estimate and the actual number of thalassemia major patients is unknown due to the prevalence of thalassemia in less developed countries.[citation

needed] Countries such as India and Pakistan are seeing a large increase of thalassemia patients due to lack of genetic counseling and screening.[citation needed] There is growing concern that thalassemia may become a very serious problem in the next 50 years, one that will burden the world's blood bank supplies and the health system in general.[citation needed] There are an estimated 1,000 people living with thalassemia major in the United States and an unknown number of carriers.[citation needed] Because of the prevalence of the disease in countries with little knowledge of thalassemia, access to proper treatment and diagnosis can be difficult.[citation needed]

Treatment

Patients with thalassemia minor usually do not require any specific treatment.[citation needed] Treatment for patients with thalassemia major includes chronic blood transfusion therapy, iron chelation, splenectomy, and allogeneic hematopoietic transplantation.[citation needed]

Medication

Medical therapy for beta thalassemia primarily involves iron chelation. Deferoxamine is the intravenously or subcutaneously administered chelation agent currently approved for use in the United States. Deferasirox (Exjade) is an oral iron chelation drug also approved in the US in 2005. Deferoprone is an oral iron chelator that has been approved in Europe since 1999 and many other countries. It is available under compassionate use guidelines in the United States.

The antioxidant indicaxanthin, found in beets, in a spectrophotometric study showed that indicaxanthin can reduce perferryl-Hb generated in solution from met-Hb and hydrogen peroxide, more effectively than either Trolox or Vitamin C. Collectively, results demonstrate that indicaxanthin can be incorporated into the redox machinery of β-thalassemic RBC and defend the cell from oxidation, possibly interfering with perferryl-Hb, a reactive intermediate in the hydroperoxide-dependent Hb degradation.[6]

Carrier detection

• A screening policy exists in Cyprus to reduce the incidence of thalassemia, which since the program's implementation in the 1970s (which also includes pre-natal screening and abortion) has reduced the number of children born with the hereditary blood disease from 1 out of every 158 births to almost zero.[7]

• In Iran as a premarital screening, the man's red cell indices are checked first, if he has microcytosis (mean cell hemoglobin < 27 pg or mean red cell volume < 80 fl), the woman

is tested. When both are microcytic their hemoglobin A2 concentrations are measured. If both have a concentration above 3.5% (diagnostic of thalassemia trait) they are referred to the local designated health post for genetic counseling.[8]

In 2008, in Spain, a baby was selectively implanted in order to be a cure for his brother's thalassemia. The child was born from an embryo screened to be free of the disease before implantation with In vitro fertilization. The baby's supply of immunocompatible cord blood was saved for transplantation to his sister. The transplantation was considered successful.[9] In 2009, a group of doctors and specialists in Chennai and Coimbatore registered the successful treatment of thalassemia in a child using a sibling's umbilical cord blood.[10]

Epidemiology

Generally, thalassemias are prevalent in populations that evolved in humid climates where malaria was endemic. It affects all races, as thalassemias protected these people from malaria due to the blood cells' easy degradation.

Thalassemias are particularly associated with people of Mediterranean origin, Arabs, and Asians.[11] The Maldives has the highest incidence of Thalassemia in the world with a carrier rate of 18% of the population. The estimated prevalence is 16% in people from Cyprus, 1%[12] in Thailand, and 3-8% in populations from Bangladesh, China, India, Malaysia and Pakistan. There are also prevalences in descendants of people from Latin America and Mediterranean countries (e.g. Greece, Italy, Portugal, Spain, and others). A very low prevalence has been reported from people in Northern Europe (0.1%) and Africa (0.9%), with those in North Africa having the highest prevalence. It is also particularly common in populations of indigenous ethnic minorities of Upper Egypt such as the Beja, Hadendoa, Sa'idi and also peoples of the Nile Delta, Red Sea Hill Region and especially amongst the Siwans.

Benefits

Epidemiological evidence from Kenya suggests another reason: protection against severe anemia may be the advantage.[13]

People diagnosed with heterozygous (carrier) β thalassemia have some protection against coronary heart disease.[14]

Retrieved from "http://en.wikipedia.org/wiki/Thalassemia" Categories: Hematology | Autosomal recessive disorders | Haemolytic anaemias | Disorders of globin and globulin proteins

Sumber : http://www.wikipedia.org Tarikh Akses : 17 Februari 2011