- Beta Thalassemia Center
- What Kind of Doctor Do I Need? Slideshow
- Dental (Oral) Health Quiz
- Causes of a Heart Attack Slideshow
- Patient Comments: Beta Thalassemia - Symptoms
- Patient Comments: Beta Thalassemia - Share Your Experience
- Find a local Hematologist in your town
- What is beta thalassemia?
- What are the thalassemias?
- What is beta thalassemia?
- What is the difference between thalassemia minor and major?
- What is Mediterranean anemia?
- What is the genetic pattern of inheritance of beta thalassemia?
- The diagnosis of thalassemia major and minor
- The treatment of thalassemia major
What is beta thalassemia?
What are the thalassemias?
The thalassemias are a group of genetic (inherited) blood disorders that share in common one feature, the defective production of hemoglobin, the protein that enables red blood cells to carry and deliver oxygen. There are many different mechanisms of defective hemoglobin synthesis and, hence, many types of thalassemia.
What is beta thalassemia?
The most familiar type of thalassemia is beta thalassemia. It involves decreased production of normal adult hemoglobin (Hb A), the predominant type of hemoglobin from soon after birth until death. (All hemoglobin consists of two parts: heme and globin). The globin part of Hb A has 4 protein sections called polypeptide chains. Two of these chains are identical and are designated the alpha chains. The other two chains are also identical to one another but differ from the alpha chains and are termed the beta chains. In persons with beta thalassemia, there is reduced or absent production of beta globin chains.
What is the difference between thalassemia minor and major?
There are two forms of beta thalassemia. They are thalassemia minor and thalassemia major (which is also called Cooley's anemia).
Thalassemia minor: The individual with thalassemia minor has only one copy of the beta thalassemia gene (together with one perfectly normal beta-chain gene). The person is said to be heterozygous for beta thalassemia.
Persons with thalassemia minor have (at most) mild anemia (slight lowering of the hemoglobin level in the blood). This situation can very closely resemble that with mild iron-deficiency anemia. However, persons with thalassemia minor have a normal blood iron level (unless they are iron deficient for other reasons). No treatment is necessary for thalassemia minor. In particular, iron is neither necessary nor advised.
Thalassemia major (Cooley's anemia): The child born with thalassemia major has two genes for beta thalassemia and no normal beta-chain gene. The child is homozygous for beta thalassemia. This causes a striking deficiency in beta chain production and in the production of Hb A. Thalassemia major is a significant illness.
The clinical picture associated with thalassemia major was first described in 1925 by the American pediatrician Thomas Cooley. Hence, the name Cooley's anemia in his honor.
At birth the baby with thalassemia major seems entirely normal. This is because the predominant hemoglobin at birth is still fetal hemoglobin (HbF). HbF has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It has no beta chains so the baby is protected at birth from the effects of thalassemia major.
Anemia begins to develop within the first months after birth. It becomes progressively more and more severe. The infant fails to thrive (to grow normally) and often has problems feeding (due to easy fatigue from lack of oxygen due to the profound anemia), bouts of fever, diarrhea, and other intestinal problems.
What is Mediterranean anemia?
The gene for beta thalassemia is not evenly distributed among peoples. It is, for example, relatively more frequent in people of Italian and Greek origin, both of which are peoples from the Mediterranean. Because of this, thalassemia major has been called Mediterranean anemia.
The name thalassemia was coined at the University of Rochester in upstate New York by the Nobel Prize-winning pathologist George Whipple and the professor of pediatrics William Bradford from the Greek thalassa for sea and -emia, meaning the blood. Thalassemia means "sea in the blood." But for the Greeks, the sea was the Mediterranean, so thalassemia also conveys the idea of the Mediterranean in the blood.
The reason that the gene for beta thalassemia is relatively common, for example, among people of Italian and Greek origin is that parts of Italy and Greece were once full of malaria. The presence of thalassemia minor (like sickle cell trait in Africa) afforded protection against malaria, and therefore, this gene thrived.
What is the genetic pattern of inheritance of beta thalassemia?
The pattern of genetic transmission of beta thalassemia (and sickle cell disease) was deciphered by James V. Neel when he was at the University of Rochester (and later at the University of Michigan). Dr. Neel recognized that the parents of children with thalassemia major had thalassemia minor with one beta thalassemia gene. When these parents had children, they have a 25% chance of having a thalassemia major child (with both genes for beta thalassemia), a 50% chance of having children with thalassemia minor (with only one gene for beta thalassemia), and a 25% chance of having a child without thalassemia major or minor (with both genes for normal beta chains). This form of inheritance is medically referred to as an autosomal recessive pattern.
The diagnosis of thalassemia major and minor
Persons with thalassemias have smaller sized red blood cells than unaffected people as well as low red blood cell counts (anemia). Thalassemia major and thalassemia minor can now be diagnosed (and distinguished from one another) not only by conventional clinical and blood testing, but also by molecular and genetic tests. These tests permit accurate diagnosis to be made at any time, even before birth (in fact, well before the beta chains are even synthesized).
The treatment of thalassemia major
Infants with thalassemia major are well at birth because of a special form of hemoglobin present in the fetus and newborn. Eventually, however, this hemoglobin is replaced by defective hemoglobin. Symptoms emerge late in the first year of life. The child develops pale skin, irritability, growth retardation, swelling of the abdomen due to enlargement of the liver and spleen (hepatosplenomegaly) with jaundice. This is associated with severe anemia with rupture of the red blood cells (hemolytic anemia). The child with thalassemia major becomes dependent on blood transfusions and, although they do help, they create further problems including iron overload. Folic acid supplementation is often given. At this time, the primary treatments are directed at relieving symptoms of the illness. Selected patients may qualify for bone marrow or stem cell transplants. Gene therapy remains a potential treatment for the future.
The long-term hope is that thalassemia major will be cured by insertion of the normal beta-chain gene through gene therapy or by another modality of molecular medicine.
Additional information is also available through the following organizations:
The National Institutes of Health (NIH)
Cellular Hematology Scientific Research Group
Blood Diseases Program
National Heart, Lung, and Blood Institute
6701 Rockledge Drive, MSC-7950
Bethesda, MD 20892-7950. USA
Cooley's Anemia Foundation,
129-09 26th Avenue - #203
Flushing, NY 11354, USA
Thalassemia International Federation
Philippou Hadjigerogiou No.1- Flat 8
P.O. Box 8807
Phone: (357) 2-319129
Fax: (357) 2-314552
Health Solutions From Our Sponsors
Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.
Top Beta Thalassemia Related Articles
Anemia Symptoms and SignsAnemia is a disease marked by low numbers of red blood cells. Low iron or underlying disease, like cancer, may be to blame. Treatment can resolve anemia.
Alpha ThalassemiaAlpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the code for the alpha chains of hemoglobin. When one gene is impaired, that person is in a carrier state and suffers no medical problems. When four genes are impaired, the production of fetal and adult hemoglobin is prevented, resulting in hydrops fetalis and leading to death before birth.
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. There are several types of anemia such as iron deficiency anemia (the most common type), sickle cell anemia, vitamin B12 anemia, pernicious anemia, and aplastic anemia. Symptoms of anemia may include
- hair loss,
- menstruation, and
Treatment for anemia includes treating the underlying cause for the condition. Iron supplements, vitamin B12 injections, and certain medications may also be necessary.
Blood TransfusionDuring a blood transfusion, blood or blood products are transferred from one person to another. There are two types of transfusions, autologous (your own blood), and donor blood (someone else's blood). There are four blood types: A; B; C; and O.
In addition, each person's blood is either Rh-positive or Rh-negative. It is important to know what to expect before, during, and after a blood transfusion, and the risks, side effecs, or complications of blood transfusions.
Enlarged SpleenAn enlarged spleen or splenomegaly, is generally caused by other diseases or conditions such as infections, cancers, blood disorders, or decreased blood flow. Symptoms of an enlarged spleen are often unnoticed. A feeling of fullness after eating a small amount of food and not being able to eat large meals may be a symptom of an enlarged spleen. Treatment for an enlarged spleen depends upon the cause.
GallstonesGallstones are stones that form when substances in the bile harden. Gallstones (formed in the gallbladder) can be as small as a grain of sand or as large as a golf ball. There can be just one large stone, hundreds of tiny stones, or any combination. The majority of gallstones do not cause signs or symptoms; however, when they do occur the primary sign is biliary colic. Symptoms of biliary colic are constant pain for 15 minutes to 4-5 hours, and it may vary in intensity; nausea, severe pain that does not worsen with movement; and pain beneath the sternum. Treatment of gallstones depends upon the patient and the clinical situation.
Genetic CounselingYour health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
HemoglobinHemoglobin is the oxygen-carrying protein molecule in the blood, specifically in the red blood cells. High hemoglobin count may be caused by dehydration, smoking, emphysema, tumors, or abuse of Epogen. Low levels of hemoglobin may be caused by anemia, blood loss, nutritional deficiency, bone marrow problems, chemotherapy, kidney failure, or sickle cell disease.
Hereditary hemochromatosis (iron overload) is an inherited disorder in which there is excessive accumulation of iron in the body. Individuals may have no symptoms or signs, or they can have severe symptoms and signs of iron overload. The most effective treatment for hemochromatosis is therapeutic phlebotomy.
Malaria FactsMalaria is a disease that is spread by the bite of an infected Anopheles mosquito. Malaria symptoms include fever, chills, nausea, vomiting, and body aches. Treatment involves supportive care and antibiotics.
Newborn Jaundice (Neonatal Jaundice)Newborn jaundice or neonatal jaundice is a yellowish discoloration of the mucous membranes, whites of the eyes, and skin of a newborn. Newborn jaundice is not a disease or condition, rather a visible sign of another disease or condition. Newborn jaundice is caused by an accumulation of bilirubin in the blood, in which there are a variety of diseases or conditions that cause this accumulation of bilirubin in the blood. Some symptoms include:
- yellowing of the whites of the eyes, mucous membranes, and skin;
- light-colored stools,
- poor feeding,
- high-pitched crying, and
Pregnancy Planning (Preparing for Pregnancy)
Pregnancy planning is an important step in preparation for starting or expanding a family. Planning for a pregnancy includes:
- Taking prenatal vitamins
- Eating healthy for you and your baby
- Disease prevention (for both parents and baby) to prevent birth defects and infections
- Avoiding certain medications that may be harmful to your baby
- How much weight gain is healthy
- Exercise safety and pregnancy
- Travel during pregnancy