B+ve to A+ve, he beats thalassemia

Courtesy by: timesofindia

AHMEDABAD: Exactly 49 days ago, Harshil Nanda was a severely ill thalassemic patient with B positive blood group. Today, he is a healthy infant with A positive blood group and a confirmed evidence of how stem cell transplant can cure thalassemia.

The change in his blood group is in fact proof that Harshil’s procedure, the country’s second stem cell transplant from umbilical cord blood of a stranger child received from a private bank, has worked.

Harshil’s rapid recovery has cheered stem cell transplant surgeons at Gujarat Cancer Research Institute (GCRI) where the first such transplant was performed nearly a year ago.

“This means that unrelated umbilical stem cell transplant can be termed as an established treatment. As they say, first success could be luck but second is science,” said director of bone marrow transplant department at GCRI Dr Sandip A Shah. The transplant was assisted by Dr Kinnari Patel and Dr Kamlesh Shah.

The first success story was of Rishi, a thalassemic major child from Kutch, who was cured by umbilical cord stem cells transplanted from an unrelated donor as he did not have siblings. Harshil is also the only child of his parents.

“While it took three months in Rishi for the donor blood cells to completely take over and change his blood group, Harshil has recovered within two months,” said Dr Shah.

For children without siblings and suffering from thalassemia, aplastic anaemia and similar blood problems, this is good news. The success rate of such transplants is 70 per cent.

Doctors are now poised to perform a third unrelated umbilical cord stem cell transplant. “The third patient is a girl called Zeel, who has got Rs 10 lakh as donation from Bollywood star Ajay Devgan to perform the transplant,” said Dr Shah.

City hospital starts OPD for blood-related diseases

Courtesy by: timesofindia

AHMEDABAD: Sterling Hospital on Wednesday launched a dedicated OPD for bone marrow transplantation and diseases of blood to coincide with the completion of 10 hematopoietic stem cell transplantations (HSCT).

“HSCT is used to treat many conditions. Some of the common acquired conditions are leukemia, lymphoma, myeloma, aplastic anaemia and thalassemia major,” head of bone marrow transplant department at the hospital, Dr Uday Deotare, said.

“A transplant offers a chance for cure or long-term remission if the inherent complications of graft versus host disease, immuno-suppressive treatments and the spectrum of opportunistic infections can be survived,” Dr Urmish Chudgar said.

Orissa needs more super-specialists

Courtesy by: expressbuzz.com

CUTTACK: Orissa is faced with an acute shortage of doctors specialising in haematology despite the fact that it has one of the major centres for treatment of blood-related ailments in the entire Eastern region.

Though the burden of blood diseases ranging from anaemia, genetic haemoglobin diseases like sickle cell anaemia, thalassemia along with haemophillia, platelet disorders, bleeding and blood vessel disorders and various types of blood cancer are on a steep rise, there are only around five doctors at the sole haematology unit in SCB Medical College and Hospital here to deal with the load.

The dearth of qualified doctors in the super-speciality has been attributed to non-existence of higher study in the discipline in the State.

And this has prompted the Indian Society of Haematology and Transfusion Medicine (ISHTM) to seek opening of a DM course in Haematology in the State. “The course will churn out specialised doctors to operate not only in the domestic sector but also across medical centres in the country,” Head of Clinical Haematology of SCBMCH Dr RK Jena said.

The ISHTM, Orissa unit, which held its fourth annual conference here today has also called for establishment of bone-marrow transmission facilities in the hospital. With advances in diagnosis and treatement methods, blood diseases are now diagnosed with great accuracy. Bone marrow transplantation has made cure possible in over 80 per cent acute lymphoblastic leukemia (a blood cancer type among children).

It has utility in other major blood- related diseases. “For this procedure, patients have to travel outside the State and incur heavy expenses on travelling and accommodation besides treatment,” organising secretary of the conference Jena said.

The hematologists have also sought provision of advanced diagnostic facilities like PCR laboratory and immuno- histochemistry facility to upgrade the disease management and treatment infrastructure in the State. Besides, the drugs for blood cancers and thalassemia patients should be exempted from taxes. Many states have waived tax on such drugs and Orissa should implement the same for the benefit of patients.

The ISHTM conference was attended by Prof Eva Kimby of Sweden, senior professors from the country and State, oncologists, general physicians and research personnel.

Cord blood bank to be set up in Ahmedabad

Courtesy by: indianexpress.com

A new collaboration between StemCyte Inc. of the US and Apollo Hospital Enterprises Ltd. now promises to bring about a revolution in the treatment about 70 diseases by introducing the ‘plasma depletion’ technology in India.

A Memorandum of Understanding between the two companies was signed at the Vibrant Gujarat Summit and the collaboration has resulted into StemCyte India Therapeutics Pvt. Ltd. This cord blood bank will be located in Ahmedabad and will have the patented technique of processing and storage of StemCyte Inc., announced the officials of the StemCyte on Thursday.

The technology of collecting high volume of stem cells called ‘plasma depletion’ which helps in successful therapeutic applications of umbilical cord stem cells can be used in the treatment of 70 different diseases like leukaemia, lymphoma, myeloma, thalassemia, sickle cell anaemia, fanconi anaemia and auto immune deficiency diseases. These diseases have been successfully treated with umbilical cord stem cells. The umbilical cord blood stem cells are fast emerging as a prime source of stem cells in the field of regenerative medicine, repair of injured tissues, nerves and organs.

According to Tushar Dalal, president of StemCyte India, the company plans to build 20,000 diverse units to help treat critically ill patients in India and abroad. He said, “Strategically situated in Gujarat, which has the highest frequency of Thalassemia patients, StemCyte India will spread the ray of hope among patients of this life threatening disease.”

While StemCyte has earlier signed two research and licensing agreements for human umbilical cord blood stem cell treatment of spinal cord injury, stroke, multiple sclerosis, Alzheimer’s disease, Parkinson’s disease, ALS, and other problems of the central nervous system, these research programs will be conducted in India by Apollo Hospitals and Cadila Pharmaceuticals here as well.

Blood Disease May Protect Kids Against Malaria

Courtesy by: oneindia.in

Washington, : In a new study, researchers have found that the blood disease alpha thalassemia may protect kids from malaria.

Alpha thalassemia is an inherited blood disorder in which children suffering from it unusually make small red blood cells that mostly cause a mild form of anaemia.

Now, researchers at the University of Oxford led by Karen Day, Ph.D., Professor and Chairman of the Department of Medical Parasitology at NYU School of Medicine, have found that having small red blood cells is an advantage against malaria.

“We made the surprising finding that packaging your hemoglobin in smaller amounts in more cells is an advantage against malaria,” she said.

“Alpha thalassemia is giving the child a hematological advantage by making more red blood cells.”

As a part of the study, researchers analysed around 800 children living in Papua, New Guinea, where malaria is endemic.

68 percent of children in Papua have alpha thalassemia. Dr. Day and her colleagues from the University of Oxford, Papua New Guinea Institute of Medical Research, and Swansea University, showed that kids with mild form of the disorder tolerated massive blood loss caused by severe malaria because they started out with 10 to 20 percent more red blood cells than unaffected children.

“It is really remarkable and so simple. Children with alpha thalassemia have adapted to the loss of red blood cells associated with malarial disease by making more of these cells with less hemoglobin,” says Dr. Day.

“So, these children do better because they end up with more hemoglobin overall when they have a malaria attack compared to normal children.

“We show that alpha thalassemia is giving the child a hematological advantage by making more red blood cells.

The study is published in the March issue of the journal PLoS Medicine. (ANI)

A closer look at thalassemia major and minor

Courtesy by: Silive.com

STATEN ISLAND, N.Y. — Thalassemias are disorders of the blood, more specifically of the red cells. The red cells are those particles necessary to carry oxygen to the different parts of the body. Their role is paramount. The red cells, despite their relative simplicity compared to other cells (for instance, they do not have a nucleus), are still extremely complex in order to achieve their important function.

The word “thalassemia” comes from thalassa, meaning “sea” in Greek. It’s a disease that is quite prevalent in areas around the Mediterranean Sea (Greece and Italy). It is estimated that about 15 percent of Staten Islanders carry the gene of thalassemia, given the presence of Italian ancestry in the borough’s demographics.

The thalassemias are hereditary disorders that cause anemia. Anemia is a condition in which the number of the red cells or the content in hemoglobin of the red cells is reduced. Many disorders may cause anemia, and there are different types of anemia. Iron, vitamin B-12, folate deficiencies, chronic disorders, tumors, kidney insufficiency, bone marrow abnormalities (just to mention a few) may cause anemia. Normally, the red cell number is between 4 to 5 million per millimeter cube and the hemoglobin is between 12 to 16 g/dl for women and 14 to18 for men. Anemia occurs when those numbers decrease.

The red cells are made by a membrane and internal components, including enzymes, electrolytes and hemoglobin, among others.

In thalassemias, it’s the hemoglobin that’s abnormal. It is the molecule needed to bind the iron. It is essentially the complex structure to carry oxygen to the tissues. The hemoglobin is composed by the “globin,” which is made by four chemical chains (alpha and beta) and the “heme” which is the core for the iron. In thalassemias the globin is deficient. There is a lack of the appropriate quantity of the chains. The most common variety found in Staten Island is the beta-thalassemia defined by a total (thalassemia major or Cooley’s anemia) or partial lack (thalassemia minor) of beta chains. In the African-American community, the alpha-thalassemia is more common. Both sexes are equally affected.

CLINICAL ASPECT

Without going into too many details, let’s review the clinical aspect of this disorder from a layman’s perspective. The Cooley’s anemia (thalassemia major) is the one that is more dreaded. It is the homozygous form of the disease (in other words, the patient has inherited the thalassemia gene from both parents).

The clinical picture is quite devastating without early intervention. Because the beta-chains are missing, the red cells become abnormal in shape and function. The spleen, which could be considered the filter of the red cells, removes all the abnormal red cells, thus producing a severe anemia that could not be compatible with life if not treated with frequent transfusions. The spleen may eventually get larger causing further anemia, abdominal pain and discomfort.

The bone marrow reacts by trying to produce more red cells to compensate for those removed. This leads to the expansion of the bone marrow spaces causing thinning of the covering bones and giving the characteristic leonine facial feature of kids with this disease. It also affects the growth of affected children. Transfusions, although life-saving, eventually lead to iron overload causing significant failure of different organs, such as the liver, heart and pancreas, because of the deposition of the extra-iron into those organs.

LIFE EXPECTANCY

In the past, the life expectancy of persons with Cooley’s anemia was usually into the 20s. Today, patients using iron binding (chelation) methods, with intravenous or, more recently tablets, can look forward to a longer and very productive life. The bound iron is eliminated through the urine. Recently, bone marrow transplantation has also been used successfully to treat this situation.

Cases of thalassemia minor are much more frequent. Patients with this condition will have a mild anemia. The inheritance is from only one parent. They are usually discovered by the routine blood tests that their physician would order. People with this “minor” type will live an otherwise normal life. The importance in their case is mostly genetic: People with this condition have a 50 percent chance of transmitting the deficient gene to their children. And if two people with the same disease procreate, there is a 25 percent risk that the progeny will have the “major” type in addition to a 50 percent chance of the “minor” form transmission. So, from a practical standpoint, people with the minor form need mostly genetic counseling.

It is important for our community to be aware of this disease because of its frequency and the health consequences related to it (social, financial, economical and psychological).

For more information on thalassemia call the Staten Island Chapter of the Cooley’s Anemia Foundation at 718-761-5380 or visit www.thalassemia.org.

This column is provided by the Richmond County Medical Society. Dr. Terenig Terjanian, is a longtime member of the Society. He specializes in hematology and oncology and is chairman of the Cancer Committee at Staten Island University Hospital.

UAE GDA Urges General Public To Get Screened For Genetic Diseases

Courtesy by: DubaiCityGuide.com

Friday May 8th marks the International Thalassemia Day, a serious genetic diseases that is common in the UAE
In UAE Genetic Disease Association’s (UAE GDA) drive to create awareness about the medical and social impacts of common inherited blood disorders prevalent in our community, such as Thalassemia, Sickle-cell Anaemia and G6PD, GDA has organized awareness campaigns and blood testing campaigns at various locations in the country.

These campaigns fall under the umbrella of UAE GDA’s ongoing project “Emirates free from new births of children with Thalassemia disease by the year 2012”; through this project UAE GDA aims to identify carriers of the most prevalent genetic disorders in the country and limit the number of newborns with this disorder.

To mark the world Thalassemia day, H. E Dr. Mariam Matar, Founder and Executive Director of UAE GDA, said:
“Since the launch of campaign in 2004, we were able to raise the public’s awareness about this disease, and establish the first UAE GDA genetic diseases lab in 2007 with the help of the Ministry of Health, and concerned federal authorities and entities in both public and private sector. Another major accomplishment for the UAE GDA included enforcing the mandatory premarital genetic disease screening”.

While premarital genetic disease screening is compulsory in the UAE, the cost of these tests may vary from hospital to another but are all in the range of 700 AED, UAE GDA’s screenings are conducted for free for all UAE nationals, and for only 50 AED for all UAE residents.

The screening takes approximately 5 minutes and is relatively painless. UAE GDA patients are granted anonymity, and receive their test results on their personal email within 10 days. Depending on the diagnosis, GDA provides the needed medical help.

Since the launch of the screening campaigns, UAE GDA has successfully screened 7000 individuals and hopes to screen an additional 4000 individuals by the end of the 2009, As part of its strategy, UAE GDA hopes to conduct 30000 screenings by the year 2012.

UAE GDA is organizing round the clock awareness campaigns this year to reduce the impact of the most common inherited genetic blood disorders in the community. The association has already conducted screening in 15 of the UAE’s universities and colleges. GDA has also conducted screening in 16 public and private organizations and bodies, such as exhibitions and organizations such as National Bank of Abu Dhabi Bank, Emirates NDB , Du Telecom, Aswaaq Centre in Nadd el Hammar, and Emirates Post.

“Our activities include promoting health education, screening for genetic disorders, pre-marital screening and genetic counseling. The UAEGDA also facilitates communication and publication of scientific knowledge, to promote education and research in genetics, and encourages interaction between workers in genetics and those in related sciences” said Dr. Matar.

With better knowledge of the genetics of various diseases, testing for the underlying defects with the use of biochemical and molecular techniques is increasingly possible. UAE GDA is fully-equipped with state-of-the-art technologies, mobile units and specialists.

It is worth mentioning that Thalassemia is the result of a genetic defect leading to severe shortages in the production of particular proteins in the blood “globins’”, which is the main component of the haemoglobin found in red blood cell. According to the last study conducted, 1 in 12 people in the UAE carrys a genetic disease gene, we are facing a high risk of developing specific genetic disorders, if both parents are found to be carriers, the risk of passing on the genetic disease increases with each pregnancy. This is UAE GDA’s awareness is concentrating on individuals in premarital stages.”

The practical aim of these screening tests is the prevention and treatment of genetic diseases and blood disorders, they can save lives and reduce pain and suffering. ” added Dr. Matar. Dr. Matar called upon those interested in screening themselves to register at the UAE GDA website: http://www.uaegda.ae/newclient.html

Turning back the clock in inherited anaemia

Courtesy by: virtualmedicalcentre.com

Researchers at Children’s Hospital Boston and Dana-Farber Cancer Institute have identified a way to get red blood cells to produce a form of haemoglobin normally made only before birth or by young infants. This could potentially transform sickle-cell disease and beta-thalassemia – life-threatening inherited anaemia – into benign or nearly benign conditions. The findings were published by the journal Science, in its online Science Express, on December 4.
After birth, babies gradually switch from producing foetal haemoglobin (HbF) to an adult form. From population studies, it’s been known for many years that people who retain the ability to produce HbF have much milder forms of anaemia. Attempts to develop therapies to reactivate HbF directly have been hampered by a lack of understanding of how HbF production is switched off. The drug hydroxyurea often raises HbF in patients, but responses are not uniform and there are potential side effects.

Seeking a better approach, researchers Stuart Orkin, MD, a Howard Hughes Medical Institute investigator at Children’s Hospital Boston, and Vijay Sankaran, an MD-PhD student in Orkin’s lab, in collaboration with researchers at the Broad Institute of Harvard and MIT, capitalised on comprehensive gene association studies that identified DNA sequence variants (altered strings of genetic code) that correlate with HbF levels. In a study published last July, they identified five variants that influence HbF levels and disease severity in a group of 1600 patients with sickle-cell disease, the most common inherited blood disorder in the United States.

The variant with the largest effect on HbF levels contains a gene called BCL11A. Located on chromosome 2, it encodes a transcription factor, a protein that regulates activity of other genes. This turned out to be a valuable lead.

In the new study, led by Orkin and Sankaran, the team showed that BCL11A directly suppresses HbF production. When the researchers suppressed BCL11A itself in human red-blood-cell precursors, the cells began making HbF in large amounts.

“This is one of very few instances in the gene association field where one has been able to take a candidate gene and figure out what it’s doing,” says Orkin, the study’s senior investigator who is also a professor of paediatrics at Harvard Medical School and chair of paediatric oncology at Dana-Farber. “It’s pretty clear that this gene is a silencer of foetal haemoglobin. If you could knock it down to a low level, you could turn on foetal haemoglobin.”

“The discovery of a single gene that profoundly affects foetal haemoglobin levels represents a major breakthrough in the quest for effective therapies for sickle cell disease and thalassemia,” notes Elizabeth G. Nabel, MD, director of the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health, which helped support the study. “Researchers can now direct their efforts at developing novel therapies aimed at a specific target that could dramatically alter the course of these often devastating blood disorders. This news should bring great hope to the millions of people worldwide affected by sickle cell disease and thalassemia.”

Increasing levels of HbF would compensate for abnormal or insufficient adult haemoglobin in sickle-cell anaemia or thalassemia, easing symptoms and in some cases achieving a virtual cure, the researchers say. The drug hydroxyurea, used in some patients with haemoglobin disorders, often raises HbF levels, but the increases are modest, it doesn’t work in all patients, it can cause toxicity, and no one knows how it works.

“While it’s been demonstrated that increased levels of HbF ameliorate the severity of sickle cell disease and beta-thalassemia, no direct strategies have yet been developed to increase HbF in these diseases,” says Sankaran. “By reducing BCL11A expression or activity, we may be able to develop targeted therapies.”

Haemoglobin is the protein in red blood cells that carries oxygen to the body’s tissues. In sickle-cell disease, haemoglobin is abnormal, forming long chains that make red blood cells stiff and sickle-shaped. In thalassemia, the body’s ability to produce haemoglobin is severely compromised. The hallmark of both disorders is anaemia that can range from mild to life-threatening. Sickle-cell disease can cause severe pain and eventual organ damage as the abnormal, sickle-shaped cells block blood vessels, robbing tissues of their blood supply; beta-thalassemia requires frequent blood transfusions and then chelation therapy to rid the blood of excess iron that also leads to organ failure.

At birth, HbF comprises between 50 to 95 percent of a child’s haemoglobin before the switch to adult haemoglobin production. The foetal form is thought to be an adaptation to the low oxygen in the foetal environment. Foetal haemoglobin has a higher affinity for oxygen, enabling it to pull oxygen more easily from the mother’s circulation.

Are there potential side effects from boosting foetal haemoglobin levels? No, the researchers say. “Some people with rare genetic deletions have 100 percent foetal haemoglobin, and they’re perfectly normal,” says Orkin.

Orkin and Sankaran are conducting further studies to figure out how the switch from foetal to adult haemoglobin production occurs and how to target BCL11A therapeutically. “Improved understanding will permit the design of therapies for reactivation of HbF in patients with sickle-cell disease or thalassemia,” says Orkin.

(Source: Science: Children’s Hospital Boston: December 2008)

Iraqi children look forward to a brighter future

Courtesy By: GulfNews.com

Abu Dhabi: Even though he is only four years old his blood is replaced every three weeks and surgery performed on him every three to six months.

Ishtar Ebrahim was eight months pregnant when a bomb landed 25 metres from her home in Iraq, knocking her unconscious. Doctors took X-rays of her baby Hussain Abdul Kareem, and detected scoliosis (curvature of the spine).

When he was only seven months, Hussain’s parents felt he was shrinking in size, he weighed only two kilos.

“At that point in time, we found out that Hussain was suffering from both scoliosis and Thalassemia major (a severe form of anaemia and oxygen depletion) which requires 280 milligrams of blood replacement every three weeks,” said his father, Alaa Abdul Kareem.

Hussain inherited Thalassemia major from both parents who were diagnosed with Thalassemia minor (a mild form of anaemia).

The UAE Red Crescent Authority (RCA) offered to provide Hussain and his family with medical treatment after being informed of his condition.

Nine-hour operation
After a nine-hour operation to adjust Hussain’s spinal cord, another operation followed four months later where a rigid brace was placed on Hussain’s spinal cord. He has also started to wear a corset brace to avoid further curvature.

“Hussain will always have Thalassemia major. As for his scoliosis, he requires an operation every time he grows in height to be able to adjust the length of his back brace which keeps his spinal cord intact,” said his father.

According to Dr Hiam Al Hallal, a pediatrician and an active volunteer at the RCA, Hussain’s psychological state has improved up to 90 per cent from when he first arrived in the UAE. “He can now smile, walk and react to other people,” she said.

Six-year-old Jumana Anas and her twin sister Roqiya were born prematurely at only six months. They were both born with cerebral palsy and a severe hip dislocation.

Jumana, however, stood more of a chance of improving than her twin sister, and arrived with her mother in the UAE to receive the required medical assistance.

“The hospital in Iraq was supposed to keep my twins in incubators for two months, but they only lasted two days due to the war in Iraq, so oxygen did not reach their brain which caused even more complications,” said Jumana’s mother.

Jumana has had three different operations in the UAE; a four-hour hip replacement that left her in a cast for four months and a wheelchair to date, surgery on her eyes due to a squint and the implantation of four platinum teeth.

According to Dr Mohammad Billeh, Medical Coordinator of the Relief and Emergency Department at the RCA, Jumana is mentally and physically handicapped but has developed since her arrival in the UAE.

“This child couldn’t walk, she used to crawl. She can now stand up and take a few steps, which is a major improvement.”

An explosion in the kitchen of their Iraqi home left another 12-year-old child, Toka Abdul Amir, with second-degree burns to her neck, chest, abdomen, thighs and left forearm.

She was treated by local surgeons in Iraq through repeated debridement and skin grafting surgery, which left her bed-bound for three months.

“Toka could not extend her neck due to skin shrinkage, when she first arrived. Through reconstructive surgical procedures and tissue expansion she will eventually reach reasonable results,” said Billeh.

The 12-year-old told Gulf News she now has hope and looks forward to the future.

“My hobby is drawing and one day I plan to become a plastic surgeon,” she said with a smile and a hopeful gleam in her eyes.

According to Toka’s father the surgeon in Iraq told the family she stood no chance of looking normal again.

“He destroyed our family’s morale until we arrived in the UAE and received positive feedback and hope from doctors and surgeons who keep telling us Toka will go back to normal and better!”

Help to date: 68 patients treated
So far the UAE Red Crescent Authority (RCA) has supervised the treatment of 68 patients from Iraq, mostly children who arrived in three different groups.

The first group consisted of 56 patients with 55 escorts (family members).

The second group consisted of 11 patients with 11 escorts.

The third group consisted of one patient with one escort.

Common conditions
Iraqi patients arrive in the UAE with various medical conditions, namely:

• Eye disorders
• Childhood deafness
• Dislocation of hips and scoliosis
• Congenital heart diseases
• Thalassemia
• Burns

ENOC employees queue up to donate blood

Courtesy by: Ameinfo.com

Members of ENOC management and staff reaffirmed their commitment to the community by recently organising a blood donation drive in conjunction with Al Wasl Hospital, Dubai.

71 donors from ENOC participated in the campaign held at the ENOC Complex.

The campaign was part of encouraging voluntary blood donation as a means of helping hospitals in Dubai to meet emergencies like accidents, surgeries and transfusions.

ENOC has been organising such campaigns regularly with Al Wasl Hospital.

The hospital provides treatment for patients suffering from various blood disorders including thalassemia, a genetic disease highly prevalent in the UAE.

Thalassemia patients need constant blood transfusions to survive.

Khalid Hadi, ENOC Group Brand and Marketing Manager, said the blood donation drive reflects the company’s conviction that corporates should care for the community and share its concerns.

‘Giving back to the community is a top priority for ENOC and wherever possible, we step forward and try to make a substantial impact in societies. Our blood donation campaigns will help Al Wasl Hospital address one of its pressing public health concerns.’

ENOC has always been at the forefront of support awareness campaigns on health, safety and the environment. In addition to organising blood donations, ENOC has in the past extended its help in highlight prevention and management of health problems like osteoporosis and autism.