Broadwater Farm charity gospel concert raises money for sickle cell

October 16, 2010


BLACK History Month celebrations will hit the right note for charity with the annual Broadwater Farm Family Gospel Festival this Saturday.

Organised by unstoppable community campaigner May Richards MBE, the festival is marking its ten-year anniversary in its campaign to raise money for children diagnosed with sickle cell and thalassaemia.

The 79-year-old has dedicated her life to fundraising to improve the quality of lives of children with the genetic disorders and is on a shortlist for the 2010 Housing Heroes Awards from Inside Housing magazine and the Chartered Institute of Housing (CIH).

Solo artists, choirs and dancers will unite for an evening of spirited and uplifting gospel music — themed Peace, Unity and Love — at the Broadwater Farm Community Centre, in Adam Road, in front of special guests including the high commissioner for Jamaica, the deputy high commissioner for Ghana and Haringey mayor Eddie Griffith.

It is being backed by Homes for Haringey, who manages the borough’s housing stock, Haringey Council and the Broadwater Farm Ecumenical Group.

Paul Dennehy, head of tenancy management (south) for Homes for Haringey, said: “May has a strong love for children and an even stronger desire to help people, young and old.

“She has raised thousands of pounds for the Haringey Sickle Cell and Thalassemia Project over the years. Visitors travel from far afield to enjoy this festival of uplifting entertainment and performances.”

Genetics project launched to cut infant deaths

October 12, 2010


A three-year genetics project has been launched in Birmingham to help tackle the city’s high infant mortality rate by raising awareness of inherited genetic disorders. The project has three strands: educational, clinical and primary care.

The primary care strand of the project, which was launched this week, aims to raise the profile of inherited genetic disorders through the public’s engagement with GPs. Three GP practices in the Heart of Birmingham Teaching Primary Care Trust are offering a screening programme for inherited blood disorders, such as sickle cell anaemia and thalassemia. They are raising awareness of other genetic disorders and are identifying families appropriate for specialist referral. The clinical strand of the project includes developing 30 new molecular tests for genetic diseases over the next three years. ‘We wanted to launch in primary care to raise the profile of this area among GPs and Primary Care’, said project manager Yasar Eltaf, from the Birmingham Women’s hospital.

The project’s focus is on genetic risk generally, but first-cousin marriage is a risk factor for inherited genetic disorders. Birmingham’s infant death rates were linked to first-cousin marriage by a Channel 4 Dispatches programme aired in August this year. A community educator from the Enhanced Genetic Services Project, Zahira Maqsood, emphasised: ‘This project is not about chastising families and community groups for their marriage and cultural choices. It is about enabling people to be aware of potential health risks and choices available to them’.

Infant death rates in Birmingham are 8.2 per 1000 population, almost double the national average of 4.8 per 1000 population. About 139 infants die each year in the city.


Exploring Sickle cell disease

September 7, 2010


Did you know that millions of people world-wide suffer from sickle cell disease—an incurable inherited blood disorder that affects red blood cells? Did you know that millions more carry the sickle cell trait (an inherited condition in which both haemoglobin A and S are produced in the red blood cells) but that many are unaware of it? Did you know that when both parents have the trait there is a 25 per cent chance that they will have a baby with sickle cell disease with each pregnancy? Or that if one parent has sickle cell anaemia and the other has the sickle cell trait, there is a 50 per cent chance of having a baby with either sickle cell disease or the sickle cell trait?

Did you also know that if one parent has sickle cell disease and the other doesn’t, all of the children will have sickle cell traits?
These alarming statistics underscore the need for more education and public awareness about this serious health issue. What you don’t know can kill you!

Mark, (not real name) was born with sickle cell disease. His three siblings were not. Coping with the illness, especially during childhood, has been no easy task. Noting that he would often become bedridden and crippled with severe joint pains, he says, “There were things as a child that I couldn’t do. I couldn’t be active for long periods because I got shortness of breath.” Although the joint pains have lessened, Mark, 42, now struggles with swollen ankles and skin ulcers because of poor circulation. His advice to others? Get tested for the sickle cell trait!

“People are ignorant and think that it can’t run in their family. People hooking up with people who have the trait and having kids, and these kids coming out with the disease.” Noting that the disease has deterred him from starting a family of his own, he says, “I know what I went through and I don’t want to put any child through that.”

Get tested
Local medical doctor, Imran Aziz, says sickle cell disease usually does not appear in an individual until three to six months of age.
Due to improved treatment and care, he says affected persons are now living into their 40’s, or 50’s, or longer. “Long ago it was difficult to find patients living past 25, but now it’s a common trend to see people living longer with the disease.” Aziz says while the Ministry of Health is doing its part to educate the public about the disease, individuals should be more proactive in educating themselves and getting tested for the trait. “It’s extremely important to know,” he stresses.

Daley Hope
Meanwhile, Tyrish Ali, who believes that the majority of the population remains “ignorant” about the disease, has taken up the mantle of spreading the word. Twenty-two-year-old Ali hopes to soon establish Daley Hope—a non-profit organisation dedicated to her late mother, Dale Minguel, who died last year of complications related to sickle cell disease. She was 47. “Recently I found out that two young people died of the disease and it brought back painful memories of my own mother’s death,” she says. “I encourage people to get tested for sickle cell trait and I encourage everyone with sickle cell anaemia to seek and continue getting treatment.”

More info:
People with sickle cell disease have red blood cells that contain mostly haemoglobin S– an abnormal type of haemoglobin. (Normal red blood cells contain haemoglobin A. Haemoglobin S and haemoglobin C are abnormal types of haemoglobin.) Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels. When sickle-shaped cells block small blood vessels, less blood reaches that part of the body, resulting in damaged tissue. Sickle cells are destroyed rapidly in the body, causing anaemia, jaundice, the formation of gallstones, damage to the spleen, kidneys and liver.

The most common types of sickle cell disease are: Sickle Cell Anaemia (SS), Sickle-Haemoglobin C Disease (SC), Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia. There’s currently no universal cure for sickle cell disease, which is most common among people whose ancestors come from Africa; Mediterranean countries ; the Arabian Peninsula; India; Spanish-speaking regions in South America, Central America, and parts of the Caribbean. Persons born with only one sickle cell gene carry sickle cell trait. People with the trait are generally healthy.

Work on genetic diseases centre to begin next month

August 22, 2010
Courtesy by:
Work on a new genetic diseases centre is to begin next month, health officials announced yesterday.
Once completed, the centre will treat patients suffering from sickle cell anaemia and thalassemia, as well as other genetic diseases.

During a meeting yesterday, chaired by Undersecretary at the Ministry of Health Dr. Abdulhai Al Awadhi, officials discussed the medial services currently provided to sickle cell anaemia patients and the requirements for the new centre.

Al Awadhi noted that a special room in the SMC’s Accident and Emergency Unit as well as two full wards within the hospital, have been allocated solely to treating sickle cell anaemia patients.

He added that the hospital is completely transparent in its operations and allows members of the Bahrain Society for Sickle Cell Disease Patients Care to visit these wards.

During the meeting, the heads of several SMC departments warned of a lack of medical staff and increasing pressure on nurses and doctors as a result of larger numbers of  patients seeking treatment at the SMC.

Al Awadhi revealed that around 1,000 patients seek treatment at the SMC’s Accident and Emergency Unit every day and this has led to a waiting list for patients as the unit is not equipped to handle such a large number of patients.

The Health Ministry has launched several initiatives to help curb the incidence of genetic diseases amongst Bahraini citizens. One such initiative has been the introduction of mandatory pre-marital screening for all Bahraini couples planning to get married.

Jackson researchers find single-gene culprit for blood diseases

August 15, 2010


Bar Harbor, Maine — Jackson Laboratory Professor Luanne Peters, Ph.D., and colleagues discovered that the mouse mutant Nan, a model for severe inherited anemia, carries a single-gene mutation, but one that selectively interferes with a cascade of events critical to normal red blood cell formation.

The discovery could point the way to future treatments for beta thalassemia, sickle cell disease or other blood disorders, and appears to represent a previously unknown mechanism of inherited disease.

Peters explains that the anemic Nan is one of dozens of mouse models of blood disease that she and her laboratory have studied over the past two decades. Mary Lyon of MHC Harwell in England had published a description of the mutation in the old Mouse Newsletter in 1983, and Peters asked Lyon to send her the mouse for analysis in 1994.

Years ago the Peters lab mapped the Nan mutation and found a single amino-acid change in one of the so-called zinc fingers of EKLF, erythroid Krüppel-like factor, which orchestrates genes that control development of blood cells. Zinc fingers are protein components that turn genes on and off. Like hands reading Braille, they search out specific DNA sequences, then bind to the DNA and insert the correct “on-off” control proteins into the target site.

“It was a pretty conservative change,” Peters says. “Glutamic acid to aspartic acid, E to D, not something by itself that you’d get wildly excited about.” Even her collaborator Dr. James Bieker of New York’s Mount Sinai School of Medicine, one of the world’s leading experts in EKLF, was “underwhelmed” with this information, she notes. “So frankly, for a while we didn’t believe it was EKLF and we kept looking for a different gene.” Adding to the mystery: Knockout mouse models lacking EKLF have a different phenotype than the Nan mouse.

The breakthrough came when Peters and her Mount Sinai collaborators conducted a simple gel-shift experiment, which showed that the Nan version of EKLF failed to bind DNA normally. Notably, this failure was selective, depending on the DNA binding site.

EKLF has three zinc fingers, each of which binds to a specific base triplet in its DNA binding site. The Nanmutation is in zinc finger 2. If the DNA binding site contains a C base, the mutant Nan EKLF binds the DNA and transactivates the gene normally. If on the other hand that triplet contains a T, “it won’t work, and all is not well,” Peters says. “A subset of erythroid genes is not expressed properly.” It was the first demonstration of a sequence-selective transcription factor defect like this, and it distinguished the Nanallele of EKLF from the null allele in the knockout models.

“It was one of those voila moments,” Peters says.

In the Nan mice, embryonic globins, which are normally down-regulated, or suppressed, after birth, are highly expressed. EKLF is a major regulator of the switch to adult globin expression. “This suggests the possibility of a drug intervention that tinkers with EKLF in order to reactivate embryonic globins in patients with beta thalassemia or sickle cell disease.”

The research findings are published in the Proceedings of the National Academy of Sciences.

The Jackson Laboratory is an independent, nonprofit biomedical research institution based in Bar Harbor, Maine, with a facility in Sacramento, Calif. Its mission is to discover the genetic basis for preventing, treating and curing human diseases, and to enable research and education for the global biomedical community.

UAE Genetic Diseases Association carries on initiative for UAE free from thalassemia by 2012

July 30, 2010


UAE Genetic Diseases Association (UAEGDA), the sole non-profit genetic organization in the UAE, recently announced that they are on track to achieve their “UAE Free from Thalassemia 2012” initiative, saying that the target looks quite achievable to eliminate births of children born with the genetic blood disease within the next two years.

Offering free and confidential testing and in association with National Bonds Corporation PJSC, the organisation held a blood screening drive earlier this week for its employees to screen them for the most commonly inherited blood genetic disorders—including as Beta Thalassemia, sickle cell anaemia, G6PD deficiency and Diabetes Mellitus—in support of UAEGDA’s national health campaign.

Regularly organized screening drives help to increase an individual’s awareness on the health risks posed by genetic blood disorders, which can be passed from one generation to the other. The process begins by registering online at the UAEGDA website. Bar-coded labels are then printed and placed on the individuals testing tubes after which the sample of blood is processed in the UAEGDA laboratory. The results are then sent directly to the individual’s email with all the details being handled solely between the client and the organization.

Dr. Maryam Matar, Founder & Chairman of UAEGDA, says that genetic blood diseases like thalassemia are highly prevalent in the UAE but can be addressed with a simple and inexpensive blood test as a primary solution in helping to reduce the presence of hereditary diseases in the country.

“We are confident that with the rapid increase in the activities of our organization and with all the awareness events organized by UAEGDA across the country, we can make the UAE free of thalassemia by 2012,” adds Dr. Matar.

As one of UAEGDA’s leading partners, National Bonds Corporation PJSC takes responsibility towards its employees seriously and is working in association with UAEGDA to support the government’s campaign to eradicate thalassemia in the country by 2012.

“We are committed to stepping up the fight against thalassemia and working towards the health of the nation, both in terms of physical and financial wellbeing,” comments Mr. Mohammed Qasim Al Ali, CEO of National Bonds Corporation PJSC.

“By offering our employees UAEGDA’s free and confidential voluntary tests, we can ensure their own wellbeing as well as that of future generations.”

The UAE Genetic Diseases Association has been able to considerably reduce the impact of common genetic disorders prevalent in the country through its community outreach programs, health education, counseling and free screening tests. They also have a free genetic clinic equipped with a state-of-the-art screening facility supervised by internationally renowned experts.

HemaQuest Pharmaceuticals Raises Additional $4M to Bring Total to $16M in Series B Financing

July 30, 2010


HemaQuest Pharmaceuticals, a clinical stage biotechnology company developing small molecule therapeutics for sickle cell disease, beta thalassemia and EBV-related cancers, announced today the closing of an additional $4M to its Series B financing by new investor, Latterell Venture Partners. This investment brings the total Series B financing to $16M. The financing is intended to help advance HemaQuest’s two lead products, HQK-1001 and HQK-1004, through Phase 2b clinical trials. Latterell Venture Partners joins the HemaQuest investor syndicate which includes Aberdare Ventures, De Novo Ventures, Forward Ventures and Lilly Ventures. In conjunction with the financing, James Woody, MD, PhD, General Partner at Latterell Venture Partners, has joined HemaQuest’s Board of Directors.

“HemaQuest is focusing on much needed clinical therapies for serious and life threatening orphan diseases. As a clinician who has cared for such patients, it is clear the unmet need is large and there is a significant need for novel new medications,” said Dr. Woody. “The company, with excellent leadership and considerable skill in the hematology and oncology space, has made great progress with the two lead compounds, with promising results in early clinical trials. We look forward to working closely with our colleagues at HemaQuest to advance these important drugs into registration trials, and eventually to patients.”

Fred Dotzler, Managing Director of De Novo Ventures and HemaQuest’s Chairman of the Board, said, “The investment by Latterell Venture Partners provides further validation to the Company’s technologies and progress in developing programs for its two lead products. We are delighted to have the very talented Jim Woody join the Board of Directors.”

HemaQuest Pharmaceuticals ( is a Seattle-based biopharmaceutical company focused on developing small molecule therapeutics based on its proprietary short chain fatty acid technologies to treat orphan hematologic diseases. HQK-1001 is an orally administered small molecule therapeutic being developed to treat the two most common hemoglobin disorders, sickle cell disease and beta thalassemia. The drug candidate has advanced through Phase 1 clinical trials and is completing testing in proof of concept clinical studies in patients with sickle cell disease and beta thalassemia. HQK-1004 is a unique therapy designed to treat malignancies associated with Epstein-Barr virus. A Phase 2 clinical trial is being initiated with this drug candidate.

Cord blood service formally launched

June 15, 2010

Hamad Medical Corporation’s Women’s Hospital, which catered to as many as 15,553 births last year, has become the first public hospital in the region to offer a private cord blood banking programme involving extensive patient education.

The formal launch of the cord blood banking services, implemented in partnership with Virgin Health Bank-QSTP, was held yesterday at an event at HMC’s Hajar Auditorium.
Women’s Hospital executive director Nish Patel, VHB-QSTP CEO Dr Rajan Jethwa, Women’s Hospital’s obstetrics and gynaecology consultant Dr Arabo and other dignitaries were present.

“We are offering our patients and their families a whole new frontier of medical therapy through the cord blood banking services,” Patel stated on the occasion.

“Our goal is to reach families, especially mothers, and raise their awareness and enable them to make an informed decision,” he explained.

The official recalled that HMC and VHB QSTP had signed a Memorandum of Understanding in December 2009 to offer the service and initiated a comprehensive training programme in January this year for Women’s Hospital staff.

The programme is intended to provide families with the opportunity to purchase high quality cord blood stem cell storage should they wish to do so.

Dr Jethwa pointed out that umbilical cord blood stem cell transplants are today used to treat over 80 diseases, principally for conditions like leukaemias and blood disorders like beta thalassemia major and sickle cell anaemia.

It is also anticipated that in the future stem cells will form the basis of developments in regenerative medicine.
Families, who choose to have their babies delivered at the Women’s Hospital, can contract with VHB QSTP to bank their newborn’s cord blood for an initial period of 20 years, by paying a one-off charge of QR12,950.

“Our multilingual counselling team is available by telephone, e-mail or at Women’s Hospital, which is responsible for about 95% of births in Qatar, and specially trained personnel will collect the cord blood using best practice techniques,” Dr Jethwa said.

Information on the service is also available at Primary Health Centres, where expectant mothers go for antenatal care until the 32nd week of pregnancy, before being referred to the Women’s Hospital.

“The process of cord blood collection does not interfere with our clinical work,” Dr Arabo explained while observing that there is an increased demand the world over to store cord blood stem cells.

It was also clarified that in the process of cord blood banking, only adult stem cells are harvested so there are no ethical considerations and the process has been confirmed as being Shariah compliant.
In a message, HMC managing director Dr Hanan al-Kuwari maintained that HMC is always striving to deliver the highest quality standards of healthcare and the partnership with VHB-QSTP is an integral part of that endeavour. Until VHB-QSTP’s cord blood stem cell processing and cryogenic storage facility is ready by the end of this year, all cord blood units collected from Qatar will be taken to VHB’s facility in London.

Newborn Genetic Screening

May 15, 2010

Courtesy by:

There is nothing more important to parents than their child’s health, but sometimes a child who looks healthy may not be.

However, there’s one test that can find illnesses hiding in plain sight, and even save your child’s life.

James Stamateris is like any 12-year-old baseball enthusiast, but he has a serious blood disorder called thalassemia major. The life-threatening illness can be picked up at birth, but in James’ case, it wasn’t.

“My doctor, I assumed, did the appropriate test, and genetic testing wasn’t offered at the time,” mother Amy Celento said.

The condition was diagnosed almost by accident by a routine blood test when he was a year old. Now, James is treated with blood transfusions every three weeks. The treatment immediately boosted his energy and personality.

“His caregiver at daycare, the first time he had a transfusion, they said, ‘oh my gosh, James is playing with everyone,'” Amy Celento said.

Now, most children with conditions like thalassemia major are diagnosed within days after birth by automatic genetic screening, done by a quick heel prick and a drop of blood. Most states test for more than 30 different disorders.

“These disorders are predominately ones that the child appears perfectly well,” Dr. Patricia Giardina, of New York Presbyterian Weill-Cornell, said. “Even the pregnancy would have gone perfectly normally, but lo and behold, the child might have a rare disorder.”

Thanks to newborn screening tests, nearly 12,000 babies each year are diagnosed with serious or life-threatening disorders, and the conditions are picked up before the symptoms even start.

“Early detection can oftentimes lesson the complications or symptoms of the disease, and perhaps even prevent complications from occurring,” Dr. Giardina said.

A growing number of parents are opting out of the testing over confidentiality concerns, but experts say there’s no reason for worry.

“Confidentiality is something that we highly respect in medicine, and we’re very cautious about preventing information from being released without the families’ permission, “Dr. Giardina said.

James Stamateris’ mother says the benefits far outweigh the risks.

“I would say do it,” Celento said. “If it’s an option, then it’s being offered to you. Do it.”

In New York State, genetic screening is done automatically, unless a parent chooses to opt out.

The information is kept under lock and key at the State Department of Health. Parents can request for their children’s records to be returned to them at any time.

More than four million children undergo genetic testing each year.

All you want to know about stem cell banking

May 15, 2010

Courtesy by:
Among the many decisions would-be-parents have to take, whether or not they should preserve their child’s cord blood cells is one such major decision they have to take. Here is some info which will let you decide whether this breakthrough in regenerative medicine works for you.

What is stem cell therapy?
Stem cells are nothing but master cells that regenerate and turn into cells that form tissues, organs and systems. These cells are undifferentiated or blank cells that do not have a specific function. Each stem cell has the potential to become another cell with a more specialised function. Also serving as a kind of repair system for the body, stem cells can divide repeatedly and then differentiate and replenish cells damaged by the various life-threatening diseases.

How effective is it?
The cord blood stem cells can be used to cure about 70 odd illnesses. Banking stem cells present in your child’s umbilical cord is particularly beneficial to treat blood-related genetic diseases. Now the benefits of this therapy are being assessed on lifestyle disorders like arthritis, heart ailments and diabetes. In fact, banking cord blood cells can also help treat siblings and other family members provided they are compatible with the individual seeking treatment.

Sagar Gopal, a resident of Chembur opted for cord stem cell banking for his little one on February 7 this year. “I heard about cord stem cell banking from a friend of mine. After doing the necessary research I realised that cord stem cell banking will be beneficial because a lot of research is on its uses. I think by taking this small step I have secured my child’s life against several life threatening diseases,” says Gopal.

Stem cells can be derived from various sources such as the bone marrow, embryos obtained by in vitro fertilization, amniotic fluid, umbilical cord blood and menstrual blood.

Bone Marrow – The bone marrow is an extremely rich and the earliest known source of somatic stem cells. Drawn from the spongy tissue found in the centre of bones, the main function of these stem cells is to make blood cells that circulate in our bodies and fight infection.

Umbilical Cord – The other rich source of stem cells is the blood left over in the umbilical cord and placenta of a newborn child. Till recently, this blood was often discarded as medical waste. However, now that umbilical cord blood is known to be a rich source of stem cells, more people are choosing to bank these cells for its potential future use.

Menstrual blood – Menstrual blood too is a rich source of stem blood cells. The advantage of this is that tissue collection can be done easily at home with the help of a menstrual cup. Also the person does not need anaesthesia and the process involved is inexpensive too. However, there is a risk of contamination so the collected sample has to be sterilised within 48 hours and stored at a temperature of -200 degrees.

Advantages of deriving stem cells from umbilical cord as compared to other sources
Removing stem cells from the umbilical cord is simpler. Usually the umbilical cord that connects the foetus with the mother is cut at the time of delivery and discarded. However, in this technique, the blood remaining in the umbilical cord that is full of stem cells is separated and stored in stem cell banks. These stem cells are similar to those found in the bone marrow and have already been used to treat leukaemia (blood cancer).

Mayur Abhaya, executive director of Life Cell, a stem cell bank in India, states, “The advantage of banking stem cells through the umbilical cord is that cord blood’s chances of matching are 20 times higher. Using cord blood cells mean that it has a lower rejection rate by the body.”

How is it stored?
As of now there are three private stem cell banks in India. These include the one run by Reliance in Mumbai, CryoCell stem bank run in New Delhi and Life Cell run in collaboration with Cryo-Cell International, USA in Chennai.

You can now preserve your newborn’s cord blood at any bank for a payment of Rs70,000 for 20 years.

However, the American Academy of Pediatrics (AAP) does not recommend private cord blood storage unless a family member has a medical condition that might be helped by stem cell transplant. The conditions include leukaemia, lymphoma, neuroblastoma, sickle cell anaemia, thalassemia. Instead, AAP urges parents to donate the cord blood cells to a bank for general use by public.

Across the world, stem cell transplants have been used since the 1960s to treat a variety of diseases such as: Acute Leukaemia, Histiocytic Disorders, Inherited Immune System Disorders, Combined Immunodeficiency Inherited Metabolic Disorders, Inherited Platelet Abnormalities, Refractory Anaemia (RA), Plasma Cell Disorders, Research on for Alzheimer’s Disease, Cardiac Disease, Diabetes, Multiple Sclerosis, Muscular Dystrophy, Parkinson’s Disease, Spinal Cord, Stroke

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