Beta-thalassemia

Courtesy by: 7thspace.com

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis ofthe beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinicallyasymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in100,000 throughout the world and 1 in 10,000 people in the European Union.

Three main forms have beendescribed: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell(RBC) transfusions.

Findings in untreated or poorly transfused individuals with thalassemia major, as seen insome developing countries, are growth retardation, pallor, jaundice, poor musculature,hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletalchanges that result from expansion of the bone marrow. Regular transfusion therapy leads to ironoverload-related complications including endocrine complication (growth retardation, failure of sexualmaturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly,adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis).

Patients with thalassemia intermediapresent later in life with moderate anemia and do not require regular transfusions. Main clinical features inthese patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis andits complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymphnodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers andincreased predisposition to thrombosis.

Thalassemia minor is clinically asymptomatic but some subjectsmay have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions inthe beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the betachains of hemoglobin (Hb).

Transmission is autosomal recessive; however, dominant mutations have alsobeen reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing.

Differentialdiagnosis is usually straightforward but may include genetic sideroblastic anemias, congenitaldyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocyticleukemia and aplastic anemia). Genetic counseling is recommended and prenatal diagnosis may be offered.Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management ofsecondary complications of iron overload.

In some circumstances, spleen removal may be required. Bonemarrow transplantation remains the only definitive cure currently available.

Individuals with thalassemiaintermedia may require splenectomy, folic acid supplementation, treatment of extramedullaryerythropoietic masses and leg ulcers, prevention and therapy of thromboembolic events. Prognosisforindividuals with beta-thalassemia has improved substantially in the last 20 years following recent medicaladvances in transfusion, iron chelation and bone marrow transplantation therapy.

However, cardiacdisease remains the main cause of death in patients with iron overload.

Anti-thalassemia efforts undermined by determined couples

Courtesy by: menafn.com

Despite the Kingdom’s efforts to reduce the spread of thalassemia through obligatory pre-marital blood tests, many couples who are carriers of the disease insist on getting married, an expert said on Thursday.

Basem Kiswani, president of the Jordanian Haemophilia and Thalassemia Society, said the number of new thalassemia cases annually had dropped by 50 per cent since the enforcement of the Pre-Marital Blood Test Law in 2004.

“When tests prove that a couple are carriers of thalassemia, we explain to them the nature of the disease and how it is going to affect their children, but some of them refuse to listen and insist on getting married,” noted Kiswani who also heads the thalassemia patients unit at Al Bashir Hospital.

Currently some 25 to 30 new thalassemia cases are registered in Jordan each year, compared to between 40 and 60 cases prior to the implementation of the law, he told The Jordan Times yesterday.

The Pre-Marital Blood Test Law obliges couples wishing to get married to carry out blood tests to ensure they are not afflicted with thalassemia in a bid to reduce the spread of the disease. The legislation does not prevent carriers of the disease from getting married.

According to Kiswani, there are currently around 1,000 Jordanians living with thalassemia and receiving treatment free-of-charge at hospitals.

He noted that the government’s annual spending on thalassemia patients reaches JD8 million, while both thalassemia and haemophilia patients need some 25,000 blood units per year.

According to a study conducted in 2007, 3-4 per cent of Jordanians carry the thalassemia gene. The study also indicated that 50,000 individuals were tested for thalassemia in 2007, with 86 testing positive for the disease.

Thalassemia is a genetically determined defect in haemoglobin synthesis that leads to stunted growth and can in some cases be fatal.

Mohammad Tarawneh, head of the Health Ministry’s non-communicable diseases department, said 1,200 thalassemia cases are registered in Jordan, noting that the expected annual increase ranges between 80-90 new cases.

Individual carriers of thalassemia are usually healthy but when combined with another carrier, there is a one in four chance that thalassemia could be passed on to their children.

On Saturday, the Jordanian Haemophilia and Thalassemia Society will mark World Thalassemia Day by holding lectures on the disease.

Azerbaijan’s first lady and Turkish prime minister’s spouse visit thalassemia center in Baku

Courtesy by: en.trend.az

Mrs. Mehriban Aliyeva, President of the Heydar Aliyev Foundation, UNESCO and ISESCO Goodwill Ambassador, MP, along with Mrs. Amina Erdogan, spouse of Turkish Prime Minister Recep Tayyip Erdogan, visited the Thalassemia Center in Baku on May 17, AzerTAj state news agency reported.

Director of the Center Azar Karimov told the guest that the center was constructed as part of the Heydar Aliyev Foundation-initiated “For Life without Thalassemia” Program.

He stressed that the Center serves about 40 patients a day. Karimov pointed out there are approximately 1000 people living in Azerbaijan with thalassemia and most of them are under permanent control.

The Center which has three regional branches is up to the international standards.

Then, Mrs. Amina Erdogan also toured the transfusion hall, clinic, lab, reanimation, the molecular diagnostics lab, sterilization room and other facilities here

Am I Number 12?

Courtesy by: webnewswire.com

Approximately one in every 12 people worldwide is living with either chronic Hepatitis B or C

The second annual World Hepatitis Day will be observed on Tuesday, 19 May 2009, as part of an ongoing movement initiated by the World Health Alliance. The ‘Am I Number 12?’ is a campaign launched by the World Health Alliance to highlight the growing incidence of Hepatitis and the magnitude of the disease. Shockingly, approximately one in every 12 people worldwide is living with either chronic Hepatitis B or chronic Hepatitis C. The awareness levels are inexplicably low for a disease that affects more number of people than even HIV or any form of cancer.

World Hepatitis Day aims to raise awareness of Hepatitis B and Hepatitis C, as well as garner support and create awareness for the disease similar to those of HIV/AIDS, TB and malaria. According to a WHO estimate, Hepatitis C kills four times more people than HIV. The long term objective of the World Hepatitis Day Campaign is to deliver improvements in health outcomes for people living with Hepatitis B and C.

“Hepatitis C (or HCV – Hepatitis C virus) is a viral infection that affects as many as 175 million people across the world. Every 15th carrier is an Indian, which results in about 12.5 million sufferers in India alone. It can become life-threatening if it remains undetected for long” says Dr. Satyaprakash, M .S. Ramaiah Hospital. Dr. Satyaprakash will be addressing patients and their relatives and will also be conducting a Hepatitis screening camp.

Worldwide, an estimated 3-4 million people are infected with the virus each year. In India alone, the death rates from Hepatitis C exceed over 100,000 per year.

About Hepatitis:

Hepatitis is an inflammation of the liver that is caused by various viruses. Over time, Hepatitis seriously damages the liver and can eventually lead to hospitalization, liver cancer, and the need for liver transplantation or even death. HCV accounts for one-fourth of all cases of chronic liver disease in India.

There are at least six different strains of the Hepatitis virus, including Hepatitis A, B, and C. Hepatitis B and C are considered the most serious strains and affect the greatest number of people.

There may be no symptoms in the first six months of infection. Nearly 20% of those infected by Hepatitis C clear the virus from their body naturally and experience no long-term effects from the infection. However, for the remaining 80% a chronic or long-term infection can develop. The course of a chronic Hepatitis C infection is extremely varied and unpredictable. Because of the common absence of symptoms, many people are unaware that they have a Hepatitis C infection until sometime after infection.

Another reason so many people with Hepatitis B and C remain undiagnosed is that many of the symptoms are subjective, at least in severity, and easy to attribute to something else. So, for example, depression, fatigue, skin problems, insomnia, pain and digestive disorders could all have other causes. Nine out of 10 people who have Hepatitis B or C don’t know they’ve got it. For these reasons Hepatitis C is often referred to as a silent killer.

Quick Facts on Hepatitis B & C:

1. Of every 100 Indians, 4 are infected with Hepatitis B and one with Hepatitis C (5%). Most are unaware of this. Both are spread by similar methods and affect the liver, can be diagnosed by simple blood tests, and can be treated.

2. HBV and HCV kill ten times more people than HIV every year (WHO estimate). In India alone the death rate from Hepatitis C exceeds over a hundred thousand per year.

3. Every 15th carrier of Hepatitis C is an Indian.

4. Being an asymptomatic disease, many are not even aware of the disease before it’s too late. It can

become life-threatening if it remains undetected for long.

5. Timely treatment CAN help in the complete eradication of HCV.

6. 1 in 5 patients with chronic HCV develop irreversible liver damage (cirrhosis).

7. About 1 in 4 patients with cirrhosis due to HCV progress to liver failure and die.

8. If detected on time, Hepatitis can be treated with medications and cured. Around 4000 patients with Hepatitis B and 230 patients with Hepatitis C have undergone treatment at SGPGIMS till date.

9. Successful treatment can stop progression of the disease to liver failure or liver cancer.

Who is at risk?

· Infected blood transfusions: Most of the patients of Hepatitis C in India have contracted the infection from blood transfusions, often received upto 20 years ago. At that time, tests for Hepatitis C were not easily available, and hence could not have been detected in the blood that was transfused. Patients who have undergone major surgeries requiring multiple blood transfusions are at highest risk.

· Injections or operations using non-disposable re-use needles or equipment accounts for about a third of the cases.

· Patients of thalassemia, or other blood disorders, who require frequent blood transfusions.

· Hepatitis B is often transmitted unknowingly from a “carrier” mother to her offsprings and hence tend to affect other family members. In a sample study at SGPGI, during family screening of 225 patients of Hepatitis B patients, at least one additional family member was found to have the infection.

· People indulging in tattooing or body piercing (unsterilized equipment or while incarcerated).

· Unprotected sex with multiple partners or a history of STDs (Sexually Transmitted Diseases).

· Occupational exposure to blood or needles.

· Intravenous drug use, especially through sharing of contaminated needles.

Can Hepatitis C be prevented?

Hepatitis B can be prevented by taking 3 doses of a HBV vaccine. Currently, there is no vaccine for HCV. The best way to prevent HCV is to avoid high-risk activities.

Thalassemia Day

Courtesy by: phuketgazette.net

PHUKET: Today, May 8, marks Thalassemia Day.

Thalassemia is a genetic blood condition that affects hemoglobin and causes anemia and other debilitating symptoms in sufferers of the disease, which is particularly prevalent among Thais, who have the highest rate of the disease in South East Asia.

One out of every 100 Thais suffers from the effects of Thalassemia and 40 out of every 100 Thais carry the mutant gene that causes the abnormalities in hemoglobin.

According to Vachira Phuket Hospital Blood Bank technician Ampai Pimadprom, there are about 90 people in Phuket who suffer from the more severe form of the disease and receive regular blood transfusions at the hospital.

The Public Health Authority advises couples intending to have children to first be screened for Thalassemia as it can be fatal to unborn children. Testing mothers-to-be for Thalassemia is standard procedure in all Thai hospitals.

HemaQuest Wins Orphan Drug Designations for Anemia Drug

Courtesy by: redorbit.com

HemaQuest Pharmaceuticals, a biopharmaceutical company, has announced that the FDA has awarded the company orphan drug designations for sickle cell anemia and beta thalassemia for HQK-1001, which is an orally administered therapeutic under clinical development for these two indications.

HemaQuest has recently completed Phase I clinical trials of HQK-1001 in healthy subjects and plans to begin clinical studies of this compound in both sickle cell anemia and beta thalassemia in the near future.

The compound’s therapeutic potential was discovered by Susan Perrine, the company’s chief scientific officer and vice president of clinical affairs, and her colleagues at Boston University.

Ronald Berenson, president and CEO of HemaQuest, said: “Orphan drug designations confirm the urgent medical need to develop new therapies to treat these two serious and life-threatening hemoglobin disorders. These designations by the FDA also provide us with strong incentives for our novel proprietary drug candidate, HQK-1001, which initially is being developed to treat both sickle cell anemia and beta thalassemia.”

Blood: the global need for donation

Courtesy by: cba.ca

Blood transfusion — the process of transferring blood or blood components from one person into another — treats massive blood loss due to trauma or replaces blood lost during surgery. It’s also used to treat people suffering from conditions such as severe anemia caused by a blood disease, such as hemophilia, sickle-cell anemia and thalassemia.

The early history of blood transfusion was dominated by trial and error. Mostly error.

So many people died after receiving the earliest recorded transfusions in the mid-17th century that the practice was banned in several European countries. Back then, doctors often used small quantities of the blood of animals, believing there was some benefit to inter-species blood exchange. Several of those early human patients survived, probably because the small quantity of blood used kept any reactions to a minimum.

International blood factoids

• Over 80 million units of blood are donated every year around the world.
• Only 38% is collected in developing countries where 82% of the global population live.
• More than half a million women die every year from complications related to pregnancy and childbirth worldwide — 99% of them are in developing countries. Hemorrhage, which accounts for 25% of the complications, is the most common cause of maternal death.
• Up to 70% of all blood transfusions in Africa are given to children with severe anemia due to malaria, which accounts for about one in five of all childhood deaths in Africa.

Transfusion remained a risky proposition until the early 20th century, when scientists discovered that people had different blood types and mixing some types could lead to a fatal reaction. Another discovery — that refrigerated blood treated with special preservatives could be stored and used days later — made transfusion a viable treatment method.

Today, most blood transfusions do not involve whole blood but one or several of the components that make up blood. Blood is a mixture of cells and liquid, and each component performs specific tasks.

• Red blood cells carry oxygen to the body’s tissues. They remove carbon dioxide. These cells comprise up to 45 per cent of your blood.
• White blood cells are the immune system’s main defence against infection. They make up less than one per cent of your blood.
• Platelets are cell fragments that clot, which helps to prevent and control bleeding. Platelets make up five per cent of your blood.
• Plasma is a straw-coloured liquid that is 90 per cent water. It is vital to your survival. It provides the transportation system for blood cells. Without plasma, the cells would not be able to do their work. Besides water, plasma also contains dissolved salts and minerals like calcium, sodium, magnesium, and potassium. Plasma also carries microbe-fighting antibodies that fight disease, and makes up about 55 per cent of our blood.

The average adult carries about five litres of blood. The average unit of donated blood is half a litre.

Blood types

The eight major types of blood (and the percentage of the population that have them) are:

• O positive (about 38%)
• O negative (about 7%)
• A positive (about 34%)
• A negative (about 6%)
• B positive (about 9%)
• B negative (about 2%)
• AB positive (about 3%)
• AB negative (about 1%)

People who are O negative can donate blood to anyone. People who are AB positive can receive blood from anyone.

Blood cells are produced by bone marrow. Some cancer patients may need transfusions to build up red blood cell counts that have been reduced by chemotherapy, which can interfere with the ability of bone marrow to produce red blood cells. People suffering from hemophilia, a disease that affects their blood’s ability to clot, may require plasma or the clotting factors contained in plasma to help their blood clot and prevent internal bleeding.

While the science of blood transfusion has advanced, there remain risks to the procedure. They include:

• Fever, which can be caused by a reaction between the recipient’s immune system and immune cells in the donor blood.
• Allergic reactions like hives or itching sometimes happen because of a reaction between the recipient’s immune system and proteins in the donated blood. These are usually mild but can be severe enough to force doctors to stop the transfusion.
• Hemolytic reaction, or the destruction of red blood cells, occurs when the donated blood and the patient’s blood are not a match. This can be life-threatening. It’s also extremely rare as health-care professionals go to great lengths to make sure that blood types are compatible before the transfusion.

There are other risks, like the transmission of certain diseases, including HIV, hepatitis A, hepatitis B, hepatitis C and Lyme disease. (For a complete list, go to the Public Health Agency of Canada.)

Since November 1985, all blood collected in Canada has been screened for HIV and other communicable diseases. It’s estimated that the risk of contracting HIV from donated blood is now 1 in 2.1 million. In the mid-1980s, that risk was 1 in 16,000. The risk of contracting hepatitis C is estimated at 1 in 1.9 million.

Canadian Blood Services (CBS) and Héma-Québec are responsible for collecting blood and administering the blood supply in Canada. The two agencies supply hospitals with well over 1.2 million units of blood a year. They strive to maintain a six-day supply of blood but periodically they fall below that.

‘There just isn’t going to be enough blood for all the procedures that patients need’—Dr. Graham Sher

On Oct. 29, 2008, CBS issued an urgent appeal for donors, saying the blood supply had fallen to just a two-day supply. Dr. Graham Sher, an official with the CBS national office in Ottawa, said donations had dropped 40 per cent over the previous two months.

“Demand for blood continues to outstrip our ability to collect it and if that continues, we’re going to get into a very difficult situation where there just isn’t going to be enough blood for all the procedures that patients need.”

While the agencies do appeal for more blood donors from time to time, an October appeal is uncommon. Normally, the blood supply drops off during the summer, when people take holidays and donors are scarce.

CBS and Héma-Québec have established basic criteria that blood donors must meet before they can give blood. They include that you must:

• Be between 17 and 71 years old to be a regular donor (17 to 61 to be a first-time donor).
• Weigh at least 50 kg (110 pounds).
• Be in general good health and feeling well when you donate.
• Complete a screening questionnaire.

Certain people are not allowed to donate at all. They include:

• People who lived in Cameroon, Central African Republic, Chad, Congo, Equatorial Guinea, Gabon, Niger and Nigeria who may have been exposed to a new strain of HIV.
• People who received a blood transfusion while visiting those countries or who have had sex with someone who lived there.
• People who spent three months or more in Britain or France between 1980 and 1996. They may have been exposed to variant Creutzfeldt-Jakob disease.
• All men who have had sex with another man, even once, since 1977. CBS argues that statistics show men who have sex with men are at greater risk for HIV/AIDS infection than other people.
• Anyone who has taken illegal drugs intravenously.
• Diabetics who are treated with insulin.

If you’ve recently had part of your body tattooed or pierced, you’re also excluded as a blood or bone marrow donor, but for only six months. If you’ve given blood and want to donate again, you have to wait at least 56 days.

According to the World Health Organization, at least 65 countries do not test all donated blood for HIV, hepatitis B, hepatitis C and syphilis. Tainted blood still accounts for as much as five per cent of HIV infections in Africa. The WHO estimates that six million tests that should be done for infections in donated blood are not carried out.