NHLBI, CDC launch surveillance and research program for inherited blood diseases

Courtesy by: physorg.com

Medical researchers are developing a new surveillance system to determine the number of patients diagnosed with a family of inherited blood disorders known as hemoglobinopathies, including sickle cell disease, thalassemias, and hemoglobin E disease.

The National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health is funding the four-year pilot project, which will involve the Centers for Disease Control and Prevention and six state health departments, to create ways to learn more about the extent of hemoglobinopathies in the United States.
Data collected from the $27 million Registry and Surveillance System in Hemoglobinopathies (RuSH) project will help researchers determine the most effective plans for developing future hemoglobinopathy registries. Research findings based on data from disease registries may provide new ideas for drug therapies and can spur the development of tests that can determine severity of diseases over the lifespan.

To manage the surveillance efforts, the NHLBI has entered into an interagency agreement with the CDC’s National Center on Birth Defects and Developmental Disabilities. As part of the project, the CDC has developed cooperative agreements to create surveillance programs with state health departments in California, Florida, Georgia, Michigan, North Carolina, and Pennsylvania.

Hemoglobinopathies involve problems with hemoglobin, the vital blood component responsible for transporting oxygen throughout the body. Production of abnormal hemoglobin, which occurs in the family of sickle cell diseases and hemoglobin E, or production of too little hemoglobin, which occurs in the thalassemias, can cause organ damage and shorten lifespan. While all states now test newborns for some of these diseases, there is no system to track the diseases nationally. In addition, patients born before screening programs began or those who have immigrated to the United States are not tracked. These statistical gaps make it difficult to know the true impact of hemoglobinopathies in this country. RuSH will help determine how many people are affected by hemoglobinopathies. Such data are essential for public health agencies to allocate adequate resources to meet the medical and social service needs of hemoglobinopathy patients.

“While we have made great strides in developing treatments for patients with sickle cell disease and other hemoglobinopathies, RuSH stands as the first major surveillance and registry program to gather comprehensive demographic and other information on people with these life-threatening diseases,” said NHLBI Acting Director Susan B. Shurin, M.D., a hematology researcher.

Hemoglobinopathies cause health problems when abnormal hemoglobin genes are inherited from both parents. Individuals who inherit a single abnormal gene, which is called carrying a trait, have few of these health problems.

The hemoglobinopathies are most common in areas where malaria has been endemic. Sickle cell disease is the most common hemoglobinopathy in the United States and the condition affects millions worldwide. Of the estimated 70,000 to 100,000 people in the United States with sickle cell disease, most are thought to have African ancestry, although the gene also occurs among people from the Mediterranean and Middle East. The abnormal hemoglobin molecules of sickle cell disease deform red blood cells, causing them to clump together and block blood flow through blood vessels, leading to painful sickle cell crises, organ damage, anemia (lack of red blood cells), and premature death.

Life-threatening complications include infections, acute chest syndrome, stroke, and pulmonary hypertension (increased blood pressure in the lung arteries). Painful crises are the leading cause of emergency room visits and hospitalizations of people who have sickle cell disease. Life expectancy has increased dramatically with state newborn screening programs and early treatment, which can include daily penicillin treatment for patients age five and younger as well as immunizations for other diseases to prevent complications.

Patients with thalassemia syndromes produce less hemoglobin than normal, and the red blood cells that are produced are rapidly destroyed. Signs and symptoms of thalassemia can include severe anemia; slowed growth and delayed puberty; bone problems; and enlarged spleen, liver, and heart. Severely affected individuals require frequent and repeated blood transfusions and treatments to reduce the accumulation of iron in the body. Thalassemia genes are widespread across the Mediterranean, Middle East, Africa, the Indian subcontinent, and Southeast Asia.

Hemoglobin E diseases are most common among persons with ancestors from Southeast Asia. Affected individuals produce a smaller than normal number of red blood cells. Red blood cells in these individuals are smaller than normal and misshapen. These abnormal red blood cells carry less oxygen to organs. Milder forms of hemoglobin E disease may not need treatment, although affected individuals may have mild anemia. Severe forms of hemoglobin E disease can cause significant anemia, bone pain, and other complications.

Through surveillance under the initial phase of the RuSH pilot program, researchers hope to determine the prevalence of the hemoglobinopathies among screened newborns and patients not identified through newborn screening. The data should help determine the prevalence of the various conditions. The research will also help describe the demographic characteristics of individuals with these conditions as well as their geographic distribution. Researchers will also examine the existing health care resources available for patients with hemoglobinopathies.

“The data gathered through our RuSH surveillance efforts will provide critical knowledge about the current state of care available for patients who have hemoglobinopathies,” said Hani Atrash, M.D., M.P.H, director of the Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities at the CDC.

Toronto doctor recognized for her courage

Courtesy by: thestar.com

A Toronto doctor who defied a drug company by warning patients of potential dangers of a drug she was studying is being recognized for her courage.

Dr. Nancy Olivieri is the 2009 recipient of the “scientific freedom and responsibility award” from the American Association for the Advancement of Science, the same organization that publishes Science magazine.

“She is being recognized for standing up for the principle that patient safety and the integrity of research comes before any loyalties to commercial or institutional interests,” AAAS spokesperson Deborah Runkle said Wednesday in a telephone interview from San Diego where the organization is holding its annual meeting at which the award is being presented.

“She exhibited an extraordinary degree of courage and responsibility to the ethics of science and to her patients,” Runkle added, noting that scientific integrity is paramount in biomedical research.

The controversy erupted in the mid-90s when Olivieri was conducting a clinical trial on deferiprone, a pill used to treat the rare blood disorder thalassemia, at the Hospital for Sick Children. She had discovered what she considered to be possibly life-threatening side effects.

Olivieri had signed an agreement with drugmaker Apotex to keep her research confidential. At the time, Apotex was negotiating a $30-million donation to the University of Toronto and its affiliated teaching hospitals, including the Hospital for Sick Children.

The dispute became public in 1998 when Olivieri expressed her concern in a medical journal. The hospital removed her as a director of one of its programs, publicly questioned her conduct and ordered that she and four researchers who defended her not speak publicly about what had happened.

The controversy grabbed headlines around the world and sparked debate over academic freedom and ethical dilemmas faced by university researchers who do clinical trials funded by drug companies.

When contacted Wednesday, Olivieri was reluctant to talk about the battle with Apotex, saying only that she is grateful for the honour.

The controversy resulted in lawsuits and countersuits. Olivieri was awarded an undisclosed settlement by the Hospital and university in 2002.

Local family on a mission to save son

Courtesy by: wggb.com

WEST SPRINGFIELD, Mass. (WGGB) – When you meet Essa Khairi you can’t tell that beneath his playful spirit and infectious laugh, the 11-month-old suffers from a rare genetic disorder with potentially life-threatening complications. He was recently diagnosed with thalassemia major. His body produces dangerously low levels of hemoglobin, depriving his tissues of crucial oxygen.

To maintain his health, Essa is dependent on monthly blood transfusions. While effective, the high levels of iron he receives have potentially dangerous consequences for his heart and liver. The only cure for his condition is a bone marrow or cord blood transplant. Essa’s parents were discouraged to learn that there are very few people of Southeast Asian descent in the National Bone Marrow Registry. It is unlikely they will find a bone marrow donor so the Khairis have decided to proceed with a cord blood transplant.

Dr. Talal Khairi contacted a doctor at Duke University specializing in cord blood transplants. He was advised that while there are potential unrelated donors, Essa’s best chance of a match is a sibling. Essa’s parents are now preparing to have a third child in hopes that the umbilical cord blood will be a match for Essa. If not, they will proceed with looking for an unrelated cord blood donor.

While the Khairis are no longer actively looking for a bone marrow donor for their son, they are still hoping to organize a local bone marrow registry drive. They are calling on people of Southeast Asian descent to come forward and register, so that if someone is in need of a transplant there is a potential match waiting.

Dr. Khairi’s colleagues at Baystate Medical Center in Springfield are helping him organize the drive. Stay tuned for more information.

Number of diabetics grows two times in Azerbaijan

Courtesy by: abc.az

The Azerbaijani Ministry of Health held an extended meeting of collegium, devoted to results of 2009.

Chief of medical care organization department Soltan Aliyev said that 118,000 patients, suffering from diabetes, were registered within the framework of State Program for Diabetes. This index exceeds 2 times exceeds that of 2003.

“Presently, the number of patients have lowered from 21.7 to 9.2 on each 100,000 persons. The quantity of patients, suffering from thalassemia, have decreased from 73 to 21 persons on 100,000 people since 2003, quantity of food poisonings have reduced by 40% and quantity of poisoned people – by 50 %,” S. Aliyev told.

Al Majid Motors helps thalassemia sufferers

Courtesy by: eyeofdubai.com

In support of KIA’s worldwide CSR program, Al Majid Motors’ staff donates blood to Al Wasel Hospital to help thalassemia patients

KIA, represented in the UAE by Al Majid Motors Co., recently took part in a major blood donation campaign in support of thalassemia patients and Al Wasel Hospital, as part of KIA’s “Moving the World Together” CSR initiative.

Over 71 employees from different departments of the Juma Al Majid Group took part in this vital initiative to give blood at the KIA Motors showroom in Deira. Doctors and nurses from Al Wasel Hospital were on hand to administer the process, with the hospital also providing beds and blood donation equipment.

Mr. Mohammad Khader, General Manager of Al Majid Motors – KIA, commented that his staff “responded magnificently to the call for donations.”

“KIA and Al Majid Motors together believe in the importance of giving back to the communities in which we operate,” he added. “We don’t just sell cars: our business philosophy matches our CSR philosophy, which is to help others attain happiness, via our role as automakers and auto dealers.”

This is the 8th year Al Majid Motors has teamed up with Al Wasel Hospital for the donation drive, which is seen as an important part of the firm’s corporate and social responsibility programme.

“Thalassemia is a big issue across the UAE, and we at Al Majid Motors see it as our civic duty to help our fellow citizens however we can in this regard,” Mr. Khader continued.

“We hope our actions have made a positive difference to those struggling with the condition of thalassemia, and we look forward to continuing our relationship with the Al Wasel Blood Donation centre in the future,” he concluded.

Virgin Health Bank signed an agreement with Al Ahli Hospital

Courtesy by: albawaba.com

Al-Ahli Hospital and Virgin Health Bank QSTP have signed an agreement creating a partnership that will assist in the development of cord blood stem cell banking in Qatar. Their collaboration will give guests of the hospital the opportunity to store the umbilical cord blood stem cells of their newborn babies.

The programme that has been developed ensures that guests who are going to have their babies at Al-Ahli Hospital are informed about cord blood banking and can benefit from VHB QSTP’s services through their maternity care. This partnership was announced in a press conference hosted by representatives from both Al-Ahli Hospital and VHB QSTP.

VHB QSTP was established to help realise the benefits of stem cell therapies for the people of Qatar and the wider Gulf region and they began offering their cord blood banking services to Qatar’s families in late 2009.

They have already completed a week long training programme for the obstetrics and midwifery teams at Al-Ahli in support of this initiative.

Mr. Abdulwahed Al-Mawlawi, the Managing Director and CEO of Medicare Group and Al-Ahli Hospital said “Al-Ahli Hospital has undertaken this partnership to assist in its development in Qatar by making it available to our honourable Guests. Teams from Al-Ahli and Virgin Health Bank have worked closely together for a number of months to assure that this service is delivered in a proficient manner.”

Dr. Rajan Jethwa, the CEO of VHB QSTP said, “Virgin Health Bank’s new partnership with Al-Ahli Hospital is a significant and exciting development for cord blood banking in Qatar and the Gulf region. Together we’ll educate families about this area of medicine and provide a high quality ethical service.”

Al-Ahli Hospital’s maternity unit is the largest among the private healthcare providers in Qatar. Having been in operation for over than three years, their maternal morbidity and mortality rates are much lower than the internationally-accepted figures. Their western-qualified and highly experienced team of consultants and specialists led by Clinical Director, Dr. Zeenat Rizvi, perform an average of six deliveries per day.

Dr. Rizvi said, “Cord blood stem cell banking provides families with the opportunity to store the stem cells of their newborn babies. These cells may be used to treat the child, or provided there is a tissue match, another member of their family.”

“Developments in this area of medicine are progressing rapidly; today cord blood stem cells are used to treat blood cancers including leukaemia’s and blood disorders such as thalassemia and sickle cell anaemia. In the future they are expected to become the basis for advances in the field of regenerative medicine. Through this partnership, we can provide our guests with ethically-compliant cord blood banking and this falls in line with our objective of providing leading edge obstetric care.”

Stem cells are obtained from cord blood collected just after a baby is born and the umbilical cord has been clamped and cut. It is a straightforward and safe procedure that has no impact on the mother or her newly born child. After collection, the cord blood is transferred to Virgin Health Bank’s Human Tissue Authority licensed processing centre in the UK, where it undergoes tests to determine its viability and the number of cells are counted before it is cryogenically preserved at -190C.

Dr Yusuf Al-Qaradawi, the eminent Islamic scholar, has approved of the cord blood banking process and has declared that it conforms to Shari’a law. Dr Al-Qaradawi is Chairman of the International Union for Muslim Scholars, a member of the Islamic Fiqh Council and the senior Islamic Jurist.

In 2009 Qatar Foundation and VHB QSTP signed a partnership that has seen VHB QSTP relocate its international headquarters to QSTP where it’s building an advanced processing and cryogenic storage facility that will be operational before the end of 2010.

The new cord blood banking service has commenced at Al-Ahli Hospital and guests are now able to get more information about it by contacting its Obstetrics and Gynaecology Department. The service costs families a one off payment of QR 12,950, paid to Virgin Health Bank, which includes the collection kit, the processing of the cord blood, all the necessary tests and 20 years of storage.

150,000 thalassemia cases in Pakistan

Courtesy by: thenews.com.pk

THERE are over 150,000 thalassemia major cases in Pakistan and the number is growing.

“If two thalassemia minor carriers got married then their children could be born with thalassemia major. Therefore, it is of paramount importance to conduct compulsory blood screening before marriage as one of the basic preventive care,” said Ammara Farooq Malik, President of an NGO, Seeds of Education, Policy & Legal Awareness Association (SEPLAA), while addressing the participants at the launching of a Youth Council and website (www.seplaa.com) to create awareness about SEPLAA’s drive “Save a life, save a generation” at its head office in DHA, Lahore, on Saturday.

Ammara Malik proposed to the government that every person should be tested at least once for thalassemia traits and this information could be put on their identity cards along with their blood type.

She said that camps for diagnosis of thalassemia would be set up in institutions to identify thalassemia minor carriers. She said that Italy and Greece had some of the highest number of cases of thalassemia and those countries had learnt to take care of the problem at the roots by educating their people that thalassemia could be prevented by taking the responsible action of blood testing before getting married. “We need to create awareness about the importance of premarital blood screening to remove the stigma of ‘shame’ or a ‘social taboo’ attached with this practice.

Earlier, a video clip of an 11-year-old thalessemic girl Kiran Ashfaq, who died after the failure of her bone marrow transplant, was also shown to highlight the gravity of the issue.

Besides, Hassan Awais Wyne, Zahra Wyne, Saman Jaffer, Jaffer Mateen, Khurram Zafar and other members and volunteers were also present.

Who should consider genetic testing?

Coutresy by: wfaa.com

Inherited diseases such as cystic fibrosis often occur in families with no known risk of them.

Gene mutations can pass silently for generations until two carriers mate; then children have a one-in-four chance of getting the disease. Some insurers cover genetic testing to see if parents carry a gene, and prenatal testing to see if a baby has a disease or a condition like Down syndrome.

The risk of certain genes varies by racial and ethnic groups.

The American College of Medical Genetics says that women who are pregnant or considering pregnancy should be offered testing for cystic fibrosis, a lung disease, and spinal muscular atrophy, a relatively common and devastating neurological disorder.

If you’re an Ashkenazi, or Eastern European Jew, testing for nine diseases is recommended, including the neurological disorders Tay-Sachs, familial dysautonomia and Gaucher disease. Blacks should consider testing for sickle cell disease.

Blacks, Hispanics, Asians and Mediterranean people are more likely than other groups to carry genes that cause thalassemia, a serious blood disorder. All pregnant women should be offered testing for Down syndrome, which is caused by an extra chromosome, not hereditary genes.

Drive against cousin marriages

Courtesy by: thenews.com.pk

The Seeds of Education, Policy & Legal Awareness Association has launched an awareness drive “Save a life, Save a Generation” to control cousin marriages which can pose health risks. In this regard, the NGO also officially launched a website (www.seplaa.com) during a press conference here at Lahore Press Club. Speaking on the occasion, Ammara Farooq Malik, the President of SEPLAA said, “At least 10 per cent of Pakistan’s population or one in every 10 people is a thalassemia minor carrier. At this estimated rate, the number of thalassemia cases will be doubled to over 200,000 in the next 10 years.”

Raj Govt. sets up committee to probe HIV+ blood transfusion

Courtesy by: mynews.in

Jaipur: Rajasthan Government has constituted a three-member committee to probe the episode of blood transfusion from HIV positive donors to six thalassemia children causing HIV infection in them.

Medical Education Secretary CM Meena said the government had been informed that five patients in Jodhpur and one in Tonk were given blood donated by HIV positive donors without mandatory blood testing and investigations.

This erratic blood transfusion led to transmission of dreaded HIV infection in these patients, Mr Meena said adding that a three-member committee headed by Rajasthan AIDS Control Society President RND Purohit would probe the entire episode and would submit its report within seven days.

Mr Meena said the state government would take all measures to save the lives of these patients.