Welcome To Iconocast

How to add a URL link from your web site to the Iconocast web sites

Virtual tour of Southern California

Recent News and Articles on the Keywords: thalassemia + 1,240,000 + thalassemia:  Related to the article below (Last Update: 8/5/2008)

Consanguineous marriages and endemic malaria: can inbreeding ... 7thSpace Interactive (press release), NY - Aug 2, 2008 In these regions, consanguinity increases the prevalence of alpha+-thalassemia, which is protective against malaria. However, it also causes an excessive ... Rediff Yukta Mookhey to direct? Rediff, India - Jul 29, 2008 Apart from working for people affected by AIDS, breast cancer and thalassemia, Yukta has also donated her organs. "This step will benefit someone, ... AME Info ENOC employees queue up to donate blood AME Info, United Arab Emirates - Aug 2, 2008 The hospital provides treatment for patients suffering from various blood disorders including thalassemia, a genetic disease highly prevalent in the UAE. ... Azerbaijan Business Center Construction of Centre for Thalassemia & Bone-Marrow ... Azerbaijan Business Center, Azerbaijan - Jul 17, 2008 ?During the meeting the sides covered issues of exchange of specialists with the purpose of exchange experience on hereditary diseases of blood, thalassemia ... Thalassemia kid callously treated at Kolkata hospital, says father Thaindian.com, Thailand - Jul 14, 2008 Kolkata, July 14 (IANS) A two-and-a half-year-old thalassemia patient was allegedly treated callously and his parents were manhandled by attending junior ... Five thalassemic kids get AIDS after blood transfusion Times of India, India - Jul 15, 2008 AHMEDABAD: Mitesh is just 12, but he has to undergo at least 20 blood transfusions in a year for thalassemia. Now, one of this life-saving transfusions has ... Striking the right chords Times of India, India - Jul 26, 2008 ... ?Khazana? ? the proceeds of which go to the Cancer Patients Aid Association and to the Parents Association of Thalassemia Unit Trust ? took place. ... 7 On Call Figthing Cooley's Anemia 7Online.com, NY - Jul 24, 2008 It is one of the complications of thalassemia, a genetic illness also called Cooley's Anemia, in which there are not enough red blood cells. ... Two-day ghazal festival at Mumbai Hindu, India - Jul 17, 2008 Mumbai (PTI): "Khazana", a two-day ghazal festival aimed at raising funds for cancer and thalassemia awareness will see several ghazal exponents regaling ... Infibeam Find Daily Automobile & Mobile Industry News - Reviews, Reports ... Infibeam, India - Jul 8, 2008 The Rotary International District 3050, decided to do just that, when it decided to create Polio and Thalassemia awareness in India . ...JNB:MOB

Thalassemia

Thalassemia is a general name for a group of inherited blood diseases. They involve abnormalities in hemoglobin, the oxygen-carrying part of the red blood cells. Hemoglobin is mainly made up of two kinds of protein, called alpha and beta globin. Individuals with thalassemia do not produce enough of one (or occasionally both) of these proteins. As a result, their red blood cells may be abnormal and unable to carry enough oxygen throughout the body.

The two main types of thalassemia are called alpha and beta thalassemia. Individuals with alpha thalassemia do not produce enough alpha globin, and those with beta thalassemia lack sufficient beta globin. There are a number of different forms of alpha and beta thalassemias, with symptoms ranging from mild to severe.

Thalassemia is among the most common inherited disorders caused by a single abnormal gene. More than 100,000 babies worldwide are born each year with severe forms of thalassemia, according to the National Academy of Sciences (1). Thalassemia occurs most frequently in people of Italian, Greek, Middle Eastern, Southern Asian and African ancestry.

Article continues below and (thank you)

What is alpha thalassemia?
There are at least five main types of alpha thalassemia. These are most common in people of Southeast Asian, Indian, southern Chinese, Middle Eastern, and African ancestry (2). There are four genes that control the production of alpha globin. The severity of the condition is determined by how many of these genes are missing or abnormal.

• Silent carrier, the mildest form, has one alpha globin gene missing or abnormal. Affected individuals generally have no symptoms, but they can pass on the genetic abnormality to their children.
  
• Alpha thalassemia minor, in which two alpha globin genes are missing or abnormal, usually does not cause major health problems. However, affected individuals may have mild anemia and can pass the condition on to their children.
  
• Hemoglobin H disease is caused by having only one normal alpha globin gene. The condition results in abnormalities in the red blood cells and rapid destruction of these cells. Most affected individuals have mild to moderate anemia and can live fairly normal lives. The anemia may temporarily worsen when the individual has a viral infection or when they are treated with certain medications (such as sulfa drugs) (3). Some affected individuals eventually develop complications, such as an enlarged spleen and gallstones (3). Individuals with hemoglobin H disease should receive regular medical care to detect and treat these complications. Some may need occasional blood transfusions (4).
  
• Hemoglobin H-Constant Spring is a more severe form of hemoglobin H disease. Affected individuals have one normal alpha globin gene, plus one abnormal one that carries a specific mutation (change) called Constant Spring. Those with this condition generally have moderate to severe anemia and often develop complications, such as an enlarged spleen. Some need blood transfusions from time to time, such as when they develop an illness with a fever, while others need more frequent transfusions (3, 4).
  
• Alpha thalassemia major, the most severe form, results from having no genes for the production of alpha globin. Affected fetuses suffer from severe anemia, heart failure and fluid buildup. They usually are stillborn, but some die in the first hours after birth. In rare cases, babies diagnosed and treated before birth with blood transfusions have survived. These babies require lifelong blood transfusions (4).

What is beta thalassemia?
There are three main forms of beta thalassemia, which range from having no effect on health to having severe health effects. These are most likely to affect people of Greek, Italian, Middle Eastern, Southeast Asian, southern Chinese and African descent (2). Two genes control the production of beta globin, and mutations (changes) on one or both of them can cause the disorder.

• Thalassemia minor (also called thalassemia trait) usually causes no symptoms, but mild anemia and other changes in the blood do occur.
  
• Thalassemia intermedia usually results in a mild to moderate anemia, though severity varies greatly (5). Affected children may develop some of the complications seen in thalassemia major, including poor growth and bone abnormalities (including fractures). Many affected individuals require occasional or more frequent blood transfusions to reduce complications (2, 5)
  
• Thalassemia major is the most severe form. It also is called Cooley's anemia, named after the doctor who first described it in 1925. Most affected children appear healthy at birth. However, during the first year or two of life, they become pale and fussy and have a poor appetite. They grow slowly and often develop jaundice (yellowing of the eyes and skin). Without treatment, they develop an enlarged spleen and liver, thinning bones that break easily, abnormal facial bones, frequent infections, and heart problems, and they die in the first decade of life. Affected children require regular blood transfusions beginning in infancy, which allows normal growth and development (5).

Other forms of thalassemia related to beta thalassemia are E-beta thalassemia and Hb S/beta thalassemia. E-beta thalassemia is most common in people from Cambodia, Vietnam, Thailand and Laos (4). Individuals with E-beta thalassemia produce a variant form of hemoglobin called hemoglobin E. Individuals who produce hemoglobin E generally are healthy or have only a mild anemia, unless they also have a form of beta thalassemia. They are then said to have E-beta thalassemia. This condition results in mild to severe anemia. Some affected individuals have symptoms resembling beta thalassemia intermedia, while others have more severe symptoms resembling beta thalassemia major (4).

Individuals with Hb S/beta thalassemia inherit one gene for beta thalassemia and one gene for sickle cell disease, another inherited anemia. Symptoms generally resemble those of sickle cell disease, including varying degrees of anemia, serious infections, pain and damage to vital organs. Often, symptoms are milder than for sickle cell disease, though severity varies. 
 
What is the treatment for thalassemia?
Blood transfusions are used to treat severe forms of thalassemia. Children and adults with beta thalassemia major require regular transfusions. Some individuals with beta thalassemia intermedia, E-beta thalassemia, and hemoglobin H-Constant Spring require tranfusions from time to time, or sometimes more frequently. Some may need a transfusion if they develop a viral illness or other infection, which may cause anemia to become more severe. More frequent transfusions may be recommended if these individuals develop complications.

Children with severe thalassemia, such as beta thalassemia major, generally receive a transfusion every 2 to 3 weeks (2). Regular transfusions help keep hemoglobin levels near normal and help prevent many of the complications of thalassemia. This treatment improves the child's growth and well-being and usually prevents heart failure and bone deformities.

Unfortunately, repeated blood transfusions lead to a buildup of iron in the body. Iron buildup can damage the heart, liver and other organs. To help prevent organ damage, children and adults who receive regular transfusions are treated with a type of drug called an iron chelator. This drug binds to iron and helps the body get rid of excess iron.

Until recently, the only drug approved in the United States to prevent iron buildup was deferoxamine (Desferal or DFO). Individuals usually receive this drug over 6 to 8 hours, often while they are sleeping, five to seven nights a week. The drug is delivered by a pump under the skin (2). In November 2005, the U.S. Food and Drug Administration (FDA) approved the first oral iron chelating drug (Exjade or deferasirox) (6). This oral drug, used alone or in combination with deferoxamine, may simplify treatment for affected children and adults.

Individuals with beta thalassemia major who are treated with regular blood transfusions and iron chelation often live 40 years or longer (1). The most common cause of death in these individuals is heart complications caused by iron buildup (1).

Children and adults with thalassemia must undergo tests to measure the level of iron in their bodies. Blood tests are used to measure the amount of iron in the blood. Unfortunately, blood tests are not very accurate in measuring the levels of iron in the heart and liver. Doctors may recommend a yearly liver biopsy, a surgical procedure in which a small amount of liver tissue is removed and tested. A few medical centers have begun to use new noninvasive imaging tests called SQUID and T2* to measure iron levels in the liver and heart (1, 2, 5). For more information on where these tests are available, contact the Cooley’s Anemia Foundation

Some children with thalassemia can be cured with a bone marrow transplant. However, this form of treatment is most successful when a donor who is an exact genetic match is available (2, 7). Generally, a sibling or other family member is most likely to be an exact match. The procedure can cure about 80 percent of children who have a fully matched family donor (7). However, only about 20 to 30 percent of children with thalassemia have a family member who is a suitable donor (7). The procedure is risky and can result in death. Scientists are evaluating whether a transplant using umbilical cord blood (which, like bone marrow, contains unspecialized cells called stem cells that produce all other blood cells) from a newborn sibling may be as effective as a bone marrow transplant, while posing fewer risks.

How is the disease transmitted?
All forms of thalassemia are inherited. The disease cannot be caught from another person who has it. Thalassemia is passed on through parents who carry the thalassemia genes in their cells.

When both parents carry alpha thalassemia genes, any child that they have is at risk for inheriting a more severe form of this condition. Individuals who know they have one of these disorders, those with family histories of these disorders, and those from countries where they are common should consider consulting a genetic counselor to find out whether their children could be at risk. (Health care providers can provide referrals to genetic counselors, or individuals can find them by contacting a major medical center.)

When two individuals with beta thalassemia trait have children together, there is a 25 percent chance (1 in 4) that any child they have will inherit a thalassemia gene from each parent and have a severe form of the disease. There is a 50 percent (2 in 4) chance that the child will inherit one of each kind of gene and have the trait like its parents; and a 25 percent (1 in 4) chance that the child will inherit two normal genes and be completely free of the disease. The odds are the same for each pregnancy when both parents have the beta thalassemia trait.

Women with milder forms of thalassemia usually have healthy pregnancies. Until recently, pregnancy was rare in women with beta thalassemia major. Several recent studies suggest that pregnancy appears safe for a woman with well-treated beta thalassemia major who does not have heart problems (8). As long as her partner does not carry a gene for thalassemia, her children will not be at risk for thalassemia, although all will be carriers (thalassemia minor).

Is there a test for thalassemia?
Yes. Blood tests and family genetic studies can show whether an individual has any form of thalassemia or thalassemia trait. Newborn screening tests now identify many babies with thalassemia. In addition, prenatal testing using chorionic villus sampling (CVS) or amniocentesis can detect or rule out thalassemia in the fetus. Researchers are seeking to develop noninvasive prenatal tests the look at fetal DNA (genetic material) in the mother’s blood.

What research on thalassemia is taking place?
Scientists are working on better ways to remove excess iron from the body to prevent or delay iron overload. They are developing and testing new oral iron-chelating drugs and looking at whether combining one of these drugs with deferoxamine may be more effective than either treatment alone (1, 5).

Researchers are studying the effectiveness of certain drugs (including hydroxyurea, a drug used to treat another inherited anemia called sickle cell disease) in reactivating the patient's genes for fetal hemoglobin. All humans produce a fetal form of hemoglobin before birth. After birth, natural genetic switches "turn off" production of fetal hemoglobin and "turn on" production of adult hemoglobin. Scientists are seeking ways to activate these genetic switches so that they can make the blood cells of patients with beta thalassemia produce more fetal hemoglobin to make up for their deficiency of adult hemoglobin. Studies to date suggest that treatment with these drugs may be helpful for some patients with beta thalassemia intermedia (1).

Researchers also are exploring the possibility that dietary treatments, such as with vitamin E, may help reduce organ damage from iron buildup (4, 5). Others continue to improve bone marrow transplantation methods that may offer a cure to more children with thalassemia.

March of Dimes grantees have been among the many scientists seeking to develop an effective form of gene therapy that may  offer a cure for thalassemia. Gene therapy may involve inserting a normal alpha or beta globin gene into the patient’s stem cells, possibly allowing these immature blood cells to produce normal red blood cells.
  
For more information
Cooley's Anemia Foundation
129-09 26th Avenue, #203
Flushing, NY 11354
(800) 522-7222
(718) 321-2873

References

1. National Academy of Sciences. Cooley’s Anemia Eighth Symposium. Posted 7/22/05.

2. Cooley’s Anemia Foundation. About Thalassemia. Accessed 9/15/05..

3. Northern California Comprehensive Thalassemia Center. Alpha Thalassemia. Accessed 9/16/05.

4. Cohen, A.R., et al. Thalassemia. Hematology 2004, American Society of Hematology, pages 14-34.

5. Rund, D. and Rachmilewitz, E. Medical Progress: Beta-Thalassemia, New England Journal of Medicine, volume 353, number 11, September 15, 2005, pages 1135-1146.

6. Food and Drug Administration (FDA). FDA Approves First Oral Drug for Chronic Iron Overload. FDA News, November 9, 2005,

7. Schrier, S. New Treatment Options for Thalassemia. Clinical Advances in Hematology and Oncology, volume 2, number 12, December 2004.

8. American College of Obstetricians and Gynecologists (ACOG). Hemoglobinopathies in Pregnancy. ACOG Practice Bulletin, number 64, July 2005.

November 2005

How does thalassemia affect the human body?

Thalassemia results in an imbalance in the production of hemoglobin, the oxygen-carrying component of blood. [top]

What are the symptoms of thalassemia?

Depending on the type and severity of thalassemia, symptoms can range from a debilitating and life-threatening anemia to no obvious symptoms whatsoever. [top]

Is thalassemia the same as being "anemic"?

Most people diagnosed as "anemic" have iron-deficiency anemia and are often treated with iron supplements and seldom if ever require blood transfusions. The kind of anemia caused by thalassemia is more serious and is the result of an imbalance in the patient’s hemoglobin that makes it incapable of carrying sufficient oxygen throughout the body. It cannot be treated with iron supplements. [top]

What is the treatment for thalassemia?

Again, this depends on the form of thalassemia you have. If you have thalassemia minor and are simply a trait carrier, you will have no symptoms and no treatment is necessary. People with thalassemia intermedia may require red blood cell transfusions at varying levels of frequency, depending on the severity of their anemia. People with thalassemia major must receive red blood cell transfusions every two to three weeks. [top]

At what age do thalassemia patients need to start blood transfusions?

This depends on a number of factors weighed by the patient’s physician and family, including the patient’s hemoglobin level, physical growth, bone change, and relative age and spleen size. Generally speaking, most thalassemia major patients will begin regular blood transfusions before their second birthday. There are cases in which thalassemia major patients have started blood transfusions as early as six months. [top]

How often must thalassemia patients receive blood transfusions?

Once again, this depends on medical factors such as the patient’s hemoglobin level. For thalassemia major patients in the United States, transfusions of one to two units every two to three weeks are the norm. Thalassemia intermedia patients often require less frequent transfusions. [top]

Where do these transfusions take place?

Most thalassemia patients receive their blood transfusions in the hematology clinic of a hospital. [top]

What other treatments do thalassemia patients require?

Thalassemia patients who receive frequent blood transfusions develop a condition called "iron overload" in which iron from the transfused red blood cells builds up in the tissues and organs and can cause organ damage and early death if left untreated. To help remove excess iron, thalassemia patients undergo a drug treatment called "chelation therapy". [top]

What is chelation therapy?

Generally speaking, chelation therapy is any drug treatment that helps the body rid itself of excessive levels of iron. Currently, the only FDA approved drug for chelation therapy is desferoxamine, marketed as Desferal. Desferal is introduced into the patient’s body through a needle inserted under the skin or intravenously and is "infused" into the patient’s body over 8-12 hours by a small battery-operated pump. [top]

Are there alternatives to the current method of chelation therapy?

Researchers are at work on other chelators that require less frequent infusions and chelators that can be taken orally. However, these alternative methods are still in the experimental phase. [top]

How long must a person continue treatments for thalassemia?

Thalassemia is a lifelong condition, so treatments are also lifelong. [top]

What is the thalassemia patient’s quality of life?

The quality of life for thalassemia patients is much better than it was twenty-five years ago, before the development of modern transfusion protocols and chelation therapy. Today’s thalassemia patients complete school and often start families. [top]

Search for a Cure
Is there a cure for thalassemia?

Technically, it is possible to end the thalassemia patient’s need for blood transfusions by a successful bone marrow transplant (BMT). However, the extreme difficulty of finding a suitable donor makes BMT an unrealistic option for many thalassemia patients. [top]

Are there other potential cures for thalassemia being developed?

Yes. Researchers are at work on several promising potential cures for thalassemia, including gene transfer therapy and fetal hemoglobin production. (For more information, see Focus on a Cure.) [top]