Talasemia adalah kecacatan genetik yang paling biasa didapati, dengan kira-kira 250 juta orang, 4.5 peratus daripada penduduk dunia adalah pengidap yang menghadapi ancaman maut. Pada 2010, Malaysia merekodkan 4,768 orang pesakit talasemia yang memerlukan pemindahan darah yang kerap. Manakala 5% daripada penduduknya adalah pembawa.



The Borneo Post : Treatment of Thalassaemia patients in Sabah improves

THE BORNEO POST : Treatment of Thalassaemia Patients in Sabah Improves
Posted on November 28, 2010, Sunday

KOTA KINABALU: Treatments for Thalassaemia patients in Sabah have shown major improvements under the comprehensive strategy for Thalassaemia care since 2005.

“Our next step in Sabah is to set up a comprehensive and integrated Thalassaemia Treatment Centre to house all the Thalasaemia care services under one roof,” said Deputy Minister of Health Datuk Rosnah Abdul Rashid Shirlin.

Rosnah pointed out that Sabah has the highest carrier rate of Beta Thalassaemia, estimated at seven per cent, which is double the national rate.

“There are 1,284 transfusion dependent Thalassaemia patients in Sabah and 254 are receiving treatment in Sabah Women and Children’s Hospital.

“A well designed One Stop Centre which meets the special needs of the patients is needed in order to provide comfortable and homely environment to the patients.

“Instead of moving the patients to the various services, we should bring all the services to the patients,” said Rosnah here yesterday when launching the ‘Toy Donation Campaign’ for the World’s Children’s Day Celebration in Likas Hospital.

She also hoped that the integrated centre could boost researches on the disease besides contributing to new information on how to manage the condition of patients.

Her speech was delivered by Assistant Minister of Resource Development and Information Technology cum Karambunai assemblywoman Datuk Jainab Ahmad Ayid.

Besides Thalassaemia, mortality among the new born babies in Sabah was also a concern of the Health Ministry.

“The ministry will be supporting the development and strengthening of the Neonatal Intensive Care in Sabah.

“We want to provide the best for our children’s health care and we ensure that no child is left behind,” said Rosnah.

Copyright 2010 BorneoPost Online. All Rights Reserved.



"..According to the data from the National Thalassaemia Registry, currently there are 4,768 thalassaemia patients registered in Malaysia. Although some may have mild disease and are not detected or recorded by the registry, among the recorded cases, 2,800 patients require regular blood transfusion......" The Star, 6th June 2010

" GIVE LIFE..... GIVE LOVE....., donate your blood today.... "



TIF’s educational publications provide concise, up-to-date information on all aspects of thalassaemia, from prevention to clinical management. All our publications are available as PDF files completely free of charge. Hard copies and CD-ROM versions can be ordered directly from TIF.

The translation of TIF’s educational publications into various languages continues in 2010. All publications translated books are or will become available on TIF’s web-site: www.thalassaemia.org.cy

Learn about your rights as a patient!

Click above link to read the PDF files


Beta Thalassemia (A Genetic Blood Disorder) - Minor and Major, Diagnosis, and Treatment Information on MedicineNet.com


•What are the thalassemias?
•What is beta thalassemia?
•What is the difference between thalassemia minor and major?
•What is Mediterranean anemia?
•What is the genetic pattern of inheritance of beta thalassemia?
•The diagnosis of thalassemia major and minor
•The treatment of thalassemia major

What are the thalassemias?
The thalassemias are a group of genetic (inherited) blood disorders that share in common one feature, the defective production of hemoglobin, the protein that enables red blood cells to carry oxygen (and carbon dioxide). There are many different disorders with defective hemoglobin synthesis and, hence, many types of thalassemia.

What is beta thalassemia?
The most familiar type of thalassemia is beta thalassemia. It involves decreased production of normal adult hemoglobin (Hb A), the predominant type of hemoglobin from soon after birth until death. (All hemoglobin consists of two parts: heme and globin). The globin part of Hb A has 4 protein sections called polypeptide chains. Two of these chains are identical and are designated the alpha chains. The other two chains are also identical to one another but differ from the alpha chains and are termed the beta chains. In persons with beta thalassemia, there is reduced or absent production of beta globin chains.

What is the difference between thalassemia minor and major?
There are two forms of beta thalassemia. They are thalassemia minor and thalassemia major (which is also called Cooley's anemia).

Thalassemia minor: The individual with thalassemia minor has only one copy of the beta thalassemia gene (together with one perfectly normal beta-chain gene). The person is said to be heterozygous for beta thalassemia.

Persons with thalassemia minor have (at most) mild anemia (with slight lowering of the hemoglobin level in the blood). This situation can very closely resemble that with mild iron-deficiency anemia. However, persons with thalassemia minor have a normal blood iron level (unless they have are iron deficient for other reasons). No treatment is necessary for thalassemia minor. In particular, iron is neither necessary nor advised.

Thalassemia major (Cooley's anemia): The child born with thalassemia major has two genes for beta thalassemia and no normal beta-chain gene. The child is homozygous for beta thalassemia. This causes a striking deficiency in beta chain production and in the production of Hb A. Thalassemia major is, therefore, a serious disease
The clinical picture associated with thalassemia major was first described in 1925 by the American pediatrician Thomas Cooley. Hence, the name Cooley's anemia in his honor.

At birth the baby with thalassemia major seems entirely normal. This is because the predominant hemoglobin at birth is still fetal hemoglobin (Hb F). Hb F has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It has no beta chains so the baby is protected at birth from the effects of thalassemia major.

Anemia begins to develop within the first months after birth. It becomes progressively more and more severe. The infant fails to thrive (to grow normally) and often has problems feeding (due to easy fatigue from lack of oxygen, with the profound anemia), bouts of fever (due to infections to which the severe anemia predisposes the child) and diarrhea and other intestinal problems.

What is Mediterranean anemia?
The gene for beta thalassemia is not evenly distributed among peoples. It is, for example, relatively more frequent in people of Italian and Greek origin, both of which are peoples from the Mediterranean. Because of this, thalassemia major has been called Mediterranean anemia.

The name thalassemia was coined at the University of Rochester in upstate New York by the Nobel Prize-winning pathologist George Whipple and the professor of pediatrics William Bradford from the Greek thalassa for sea and -emia, meaning the blood. Thalassemia means "sea in the blood." But for the Greeks, the sea was the Mediterranean, so thalassemia also conveys the idea of the Mediterrranean in the blood.

The reason that the gene for beta thalassemia is relatively common, for example, among people of Italian and Greek origin is that parts of Italy and Greece were once full of malaria. The presence of thalassemia minor (like sickle cell trait in Africa) afforded protection against malaria, and therefore, this gene thrived.

What is the genetic pattern of inheritance of beta thalassemia?
The pattern of genetic transmission of beta thalassemia (and sickle cell disease) was deciphered by James V. Neel when he was at the University of Rochester (he later went to Michigan). Dr. Neel recognized that the parents of children with thalassemia major had thalassemia minor with one beta thalassemia gene. When these parents had children, they have a 25% chance of having a thalassemia major child (with both genes for beta thalassemia), a 50% chance of having children with thalassemia minor (with only one gene for beta thalassemia), and a 25% chance of having a child without thalassemia major or minor (with both genes for normal beta chains). This form of inheritance is medically referred to as an autosomal recessive pattern.

The diagnosis of thalassemia major and minor
Persons with thalassemias have smaller sized red blood cells than normals as well as low red blood cell counts (anemia). Thalassemia major and thalassemia minor can now be diagnosed (and distinguished from one another) not only by conventional clinical and blood testing, but also by molecular medical tests. These tests permit accurate diagnosis to be made at any time, even before birth (in fact, well before the beta chain machinery is fired up to make beta chains for hemoglobin).

The treatment of thalassemia major
Infants with thalassemia major are well at birth because of a special form of hemoglobin present in the fetus and newborn. Eventually, however, this hemoglobin is replaced by defective hemoglobin. Symptoms emerge late in the first year of life. The child develops pale skin, irritability, growth retardation, swelling of the abdomen due to enlargement of the liver and spleen (hepatosplenomegaly) with jaundice. This is associated with severe anemia with rupture of the red blood cells (hemolytic anemia). The child with thalassemia major becomes dependent on blood transfusions and, although they do help, they create further problems including iron overload. Folic acid supplementation is often given. At this time, there is only treatment for relieving the symptoms of the illness for thalassemia major. Gene therapy remains a potential treatment for the future.

The long-term hope is that thalassemia major will be cured by insertion of the normal beta-chain gene through gene therapy or by another modality of molecular medicine.

Beta Thalassemia At A Glance

Thalassemias are inherited blood disorders.
Thalassemia patients make defective hemoglobin.
•There are two forms of beta thalassemia: thalassemia minor and thalassemia major (also called Cooley's anemia).
Beta thalassemia is more frequent in people of Italian and Greek origin.

 Harrison's Principles of Internal Medicine,
McGraw-Hill, edited by Eugene Braunwald,
et. al., 2001.

Additional information is also available through the following organizations:

The National Institutes of Health (NIH)
Cellular Hematology Scientific Research Group
Blood Diseases Program

National Heart, Lung, and Blood Institute
6701 Rockledge Drive, MSC-7950
Bethesda, MD 20892-7950. USA
Phone: 301-435-0050
Fax: 301-480-0868

Cooley's Anemia Foundation,
129-09 26th Avenue - #203
Flushing, NY 11354, USA
Phone: 800-522-7222
Fax: 718-321-3340

Thalassemia International Federation
Philippou Hadjigerogiou No.1- Flat 8
P.O. Box 8807
Nicosia, Cyprus
Phone: (357) 2-319129
Fax: (357) 2-314552
Last Editorial Review: 12/11/2005

©1996-2010 MedicineNet, Inc. All rights reserved.
MedicineNet does not provide medical advice, diagnosis or treatment.


Genetic therapy cures thalassaemia : The Hindu

Online edition of India's National Newspaper
Thursday, Sep 16, 2010

Genetic therapy cures thalassaemia


Though the patient has not required any blood transfusion for the last 2 years, risk of cancer has to be continuously monitored

 Photo: Mohammed Yousuf

Treatment: Frequent blood transfusion is needed
to treat anaemia in patients with thalassaemia.

Nearly 10,000 children born every year in India suffer from thalassaemia major, an inherited disease that is caused by an abnormality in haemoglobin (an oxygen-carrying protein) production. This results in ineffective production of red blood cells, thus causing anaemia. This necessitates regular blood transfusion. It not only affects the quality of life of children but also cuts short their life span.

A paper published online in Nature today (Sept 16) reports the first case where gene therapy on an 18-year-old teenager has successfully cured the disease.

Transfusion free
The therapy was performed three years ago in June and the person has not required any blood transfusion since June 2008, a year after the transplantation was conducted. However, the patient remains mildly anaemic. The frequency of transfusion requirements was 2-3 red blood packs given once a month before the therapy.

“At present, approximately three years post-transplantation, the biological and clinical evolution is remarkable, and the patient's quality of life is good,” note the authors.

Since no red blood transfusion was required since June 2008, the authors consider this case as a “clinical success.”

The procedure
First the patient's diseased haematopoietic stem cells taken from the bone marrow were separated. They then transferred a functional beta-globin gene capable of producing red blood cells into the haematopoietic stem cells. The beta-globin gene was introduced into the patient's haematopoietic stem cells using a viral vector (HIV-derived lentiviral vector).

With the gene successfully transferred, the patient was subjected to a high dose of chemotherapy before transplanting the genetically modified haematopoietic stem cells. High dose chemotherapy treatment ensured that all diseased stem cells were destroyed. This ensured that the effects of the genetically modified stem cells introduced were not diluted and hence the outcome not compromised.

Destroying the diseased stem cells through chemotherapy prior to undertaking bone marrow transplantation to treat thalassaemia patients is routine.

Following the treatment, the haematopoietic stem cells containing the modified gene started to produce healthy blood cells.

According to a News and Views piece in the same issue of Nature, the levels of genetically modified cells rose from less than 2 per cent in the first few months to 11 per cent at 33 months after transplantation.

Need for caution
However, there is great need for caution. The genetically modified stem cells appear to have altered the expression of a gene that controls the behaviour of blood stem cells, causing a mild, benign expansion of these cells.

While the effect seen in the patient may be responsible for much of the therapeutic benefit, the possibility that the behaviour is a prelude to cancer cannot be completely ruled out.

The paper notes that the increased levels of a particular protein (HMGA2) that is implicated as a potential cancer stimulus was present in only half of all the haematopoietic cells circulating in the patient's blood.

Based on this fact, the authors note that “there is no evidence of a malignant or pre-malignant state” in the patient.

Earlier experiments
It must be remembered that earlier experiments of introducing genetically modified haematopoietic stem cells led to cancer. The first time it was tested about ten years ago, a murine leukaemia virus vector was used. Several patients developed cancer.

In a later trial, a retroviral vector was used to introduce the genetically modified beta-globin gene. But the result was the same — patients developed cancer.

Though HIV-derived lentiviral vector was used in this case, there has been some benign proliferation of cells that have a protein which is often implicated in cancer.

Hence many more trials and more investigations are required before genetic therapy for curing thalassaemia can be considered as a viable alternative.

The advantage
The advantage with genetic therapy is that the therapeutic gene (beta-globin gene) is made in the laboratory and inserted into the vector and transplanted into the body.

This makes redundant the need to look out for a donor, leave alone donors with a perfect tissue match as the recipient's, as is the case with bone marrow transplantation.

Though stem cells harvested from cord blood do not require perfect tissue match, a perfect tissue match, nevertheless, vastly improves the chances of the transplant's success.

Copyright © 2010, The Hindu


Motivations Of Life

Motivations Of Life
An Nisa Editor: naadherah

The most difficult person to FACE in life is yourself.

A GRATEFUL heart is the cure for loneliness.

Do not judge the FUTURE by the past.

Never stop reaching for the GOAL in front.

Hold on to your BELIEF, then you will overcome difficulties.

TRIVIALITIES can accumulate to an important episode.

Kind DEEDS can bring good returns.

DREAM is our motivation in life.

WISDOM is to understand that the world is ever-changing.

SINCERITY is a natural spring of water.

Danger brings us TRUE friends.

SMILE is the first step of a new life.

So, go on with your life with a new spirit.

Everyday is a new day.

Artikel iluvislam.com

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All Rights Reserved. Remodify by aeyie.com.

Motivations Of Life iluvislam.com + discover the beauty of islam



'Life is Colourfull' Design by Zulhafidz, Designer iLuvislam.com.

Hidup ini berwarna-warni. Ada kala warnanya cerah dan menenangkan, adakala warnanya malap dan menyesakkan.

Warna-warni kehidupan inilah yang membuatkan kita dapat hidup sebagai seorang manusia normal yang tidak monotone, tidak sentiasa menang dan tidak sentiasa kalah.

Tidak sentiasa lemah dan tidak sentiasa kuat.

Warna-warni dalam kehidupan itu adalah lambang kehebatan zat Allah yang maha menciptakan.

Supaya kita sedar bahawa hidup kita ini tidak selalu berjalan menurut kemahuan kita, ada kuasa luar yang mengatur perjalanan hidup kita dan mengatasi aturan-aturan yang kita buat.

Tidak akan mungkin ada orang yang mampu menciptakan suasana senja yang berbeza-beza, atau pagi yang sentiasa ada kelainan.

Kadangkala suasana itu dingin sejuk dan adakala ia panas membakar.

Alam ini adalah pameran Allah yang terpampang depan mata kita.

Adakah kita masih tidak mahu melihat setelah kita merasakan nikmatnya berada di atas muka bumi ini?

Kita melalui beberapa fasa dalam kehidupan kita.

Dalam setiap jalan yang kita lalui, pasti ada sesuatu yang baru yang kita perolehi.

Terlalu banyak 'sesuatu' yang belum kita terokai dan terlalu banyak jalan yang belum kita lalui.

Boleh jadi dan sememangnya kita takkan mampu menerokai segala-galanya dalam sela masa umur yang diberikan di dunia ini.

Dalam setiap fenomena yang berlaku dalam kehidupan kita pasti ada hikmahnya, dan ada warna-warninya.

- Petikan ZulYunus.Com

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the social network

"Saya ingin menonton filem The Social Network.....!!"

Siapa yang tidak mengenali Mark Zuckerberg, pengasas Facebook yang merubah dunia komunikasi dengan jaringan sosial Facebook. Cuma segelitir dari kita mempu melakukan revolosi dan Zukensberg salah seorang darinya. Ini menjadi kannya sebagai seorang billionaire termuda pada masa kini.

Kejayaan yang ditempanya bukan dengan cara mudah, ia juga penuh dengan rintangan. Kejayaan jaringan sosial Facebook semenjak 2003 menemukannya dengan 500 juta kenalan baru dan dalam masa yang sama juga melahirkan musuh-musuh termasuk dari kalangan teman baiknya.

Filem The Social Network yang diarahkan oleh David Fincher dan diterbitkan oleh Scott Rudin, Dana Brunetti, Michael De Luca, and Ceán Chaffin adalah berdasarkan buku "The Accidental Billionaires" oleh Ben Mezrich. Filem ini dilakonkan oleh Jesse Eisenberg, Andrew Garfield, Justin Timberlake, Armie Hammer dan Josh Pence.


Komen & Maklumbalas Anda

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