Anyone can be a carrier of thalassaemia, but its much more common in people from certain ethnic backgrounds. Beta thalassemia is a blood disorder that reduces the production of hemoglobin. However, each child has a 50% or 1 in 2 chance to inherit beta thalassemia trait from the parent. There are two main forms of betathalassemia, classified based on. Most persons with thalassemia trait are found incidentally when their complete blood count shows a 10mild microcytic anemia.
My baby has hemoglobin dbeta thalassemia your babys newborn screening test showed that he or she has hemoglobin dbeta thalassemia. Alpha thalassemia trait minor anemia 3 hemoglobin h disease mild to moderate anemia may lead normal life 4 hydrops fetalis fetal death usually occurs at birth betathalassemia. Beta thalassemia disease can only happen when both parents have beta thalassemia trait. Over two million people in the united states carry the genetic trait for thalassemia. The normality of the one potential crossover in this series was apparently in doubt. My baby has hemoglobin dbeta thalassemia what does this. The most familiar type of thalassemia is beta thalassemia. Beta thalassemias are due to mutations in the hbb gene on chromosome 11, also inherited in an autosomal, recessive fashion. The abnormal hemoglobin can lead to anemia not enough rbcs in the body and other medical problems. In this type, the lack of beta protein causes no problems in the normal functioning of the hemoglobin. Babies who have hemoglobin dbeta thalassemia are no more likely to get sick than any other baby. The term thalassemia is derived from the greek, thalassa sea and haima blood.
Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. Betathalassemia is a blood disorder that reduces the bodys production of hemoglobin. The nhs sickle cell and thalassaemia screening programme also has detailed leaflets about being a beta thalassaemia carrier pdf, 804kb or a delta beta thalassaemia carrier pdf, 779kb. The severity and type of anemia depends upon the number of genes that are affected. Alpha thalassemia trait alpha thalassemia minor y also called alpha thalassemia minor. Microcytic anemia can be caused by iron deficiency, thalassemia, lead. Beta thalassemia is a condition that affects the red blood cells. Thalassemia major, variably referred to as cooleys anemia and mediterranean anemia, thalassemia intermedia and thalassemia minor also called betathalassemia carrier, betathalassemia trait or heterozygous betathalassemia. Beta thalassemia trait is inherited from ones parents, like hair or eye color. Beta thalassemia cooleys anemia childrens wisconsin.
Thalassemia includes a number of different forms of anemia. The haematological variables, haematinic state, and placental function of more than 2000 pregnant women, heterozygous for either alpha or betathalassaemia genes, were examined during pregnancy. It is a genetic trait passed down from parents to children. Pdf thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. Thalassemia is a treatable disorder that can be wellmanaged with blood transfusions and chelation therapy. Carrying beta thalassaemia also known as having beta thalassaemia trait a blood test has shown that you carry beta thalassaemia. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Beta thalassemia is a rare, inherited blood disorder characterized by low levels of hemoglobin, a protein that resides in red blood cells and carries oxygen throughout the body beta thalassemia is usually inherited in an autosomal recessive manner, which means both copies of the hbb gene in each cell have mutations. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Normally, beta thalassemia trait does not cause any health problems.
Individuals with beta thalassemia trait or beta thalassemia minor are heterozygous for beta thalassemia, or simply a carrier of beta thalassemia. Beta thalassemia trait and beta thalassemia disease. People with this condition will need frequent blood transfusions. Patients of mediterranean extraction are more likely than africans to be anemic with thalassemia trait, because they tend to have betazero thalassemia rather than betaplus thalassemia. Hemoglobin is the protein molecule in red blood cells that carries oxygen. Treatment options include regular blood transfusions and bone marrow transplants. In the homozygous state, beta thalassemia ie, thalassemia major causes severe, transfusiondependent anemia.
This distribution suggests that the socalled inter acting type of thalassemia is allelic with or closely linked to the hbp hb a 2. For example, if both parents have the faulty gene that causes beta thalassaemia major, theres a 1 in 4 chance of each child they have being born with the condition. As with about half of all hereditary diseases, an inherited mutation damages the assembly of the messengertype rna mrna that is transcribed from a chromosome. Alpha thalassemia major with hemoglobin barts usually results in fatal hydrops fetalis. Slide hemoglobin h disease y second most severe form alpha thalassemia. Affected individuals also have a shortage of red blood cells anemia, which can cause pale skin.
When both parents have beta thalassemia trait, there is a 25% or 1 in 4 chance in each pregnancy for the baby to have beta thalassemia disease. A child can only be born with thalassaemia if they inherit these faulty genes from both parents. People with normal hemoglobin have only one 1 type, hemoglobin a. In the heterozygous state, the beta thalassemia trait ie, thalassemia minor causes mildtomoderate microcytic anemia. People with betathalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications.
Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of betaglobin chains. Betathalassemia genetic and rare diseases information. Silent carrier 2 trait a l p h a t h a lassemia 1 trait results from deletions of 2 of the alpha gene and commonly is a subclinical anemia. Thalassaemia is caused by faulty genes that affect the production of haemoglobin. Thal minor is further divided into thalassemia minima a person has little to no symptoms and thalassemia intermedia a person has moderate to severe anemia. Thalassaemia major is a genetic condition that affects the production of haemoglobin, resulting in severe anaemia. When both parents have beta thalassemia trait, there is. Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Coexisting iron deficiency anemia and beta thalassemia. Depending on the type of beta thalassemia, symptoms. Thalassemia minor or thalassemia trait one beta gene has a deletion, resulting in anemia.
The most severe form of alpha thalassemia is called alpha thalassemia major or hydrops fetalis. The inheritance of alphathalassemia, however, is more complex because of the involvement of one or more genes. If one parent has beta thalassemia trait and the other parent has normal hemoglobin a, there is a 50 percent 1 in 2 chance with each pregnancy of having a child with beta thalassemia trait. Fortunately, the treatment for thalassemia has improved greatly and outcomes are improved. If one parent has beta thalassemia trait and the other parent has normal hemoglobin a, there is a 50 percent 1 in 2 chance with. There is a 75% or 3 in 4 chance that the baby will not have this disease. Beta thalassemia trait is also known as beta thalassemia minor. When there isnt enough hemoglobin, the bodys red blood cells dont function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling. Each child has a 25% chance of inheriting 2 missing genes and 2 normal genes thalassemia trait, 3 missing genes and 1 normal gene hemoglobin h disease, 4 normal genes no anemia, or 1 missing gene and 3 normal genes silent carrier. Abstract thalassemias are genetic disorders inherited from a persons parents. The genetic defect in mediterranean populations is caused most commonly by either 1 a mutation creating an abnormal splicing site or 2 a mutation creating. Beta thalassemia is caused by mutations in the beta chain of the hemoglobin molecule.
Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymp tomatic and require no treatment. Beta thalassemia minor or thalassemia minor, a rare genetic blood disorder, is a defect in the synthesis of beta chains of hemoglobin a protein that carries oxygen to the tissues. It involves decreased production of normal adult hemoglobin hb a, the predominant type of hemoglobin from soon after birth until death. This means you have one abnormal betahaemoglobin gene out of the normal two beta genes.
Iron deficiency anemia and thalassemia syndromes, especially beta thalassemia trait btt, are the two most frequent microcytic hypochromic anemias highly prevalent in countries like india, 14. This condition is usually diagnosed within the first six months of life. Alpha thalassemia trait occurs if one or two of the four genes are missing. Learn about symptoms, treatment, who is a carrier, and diagnosis for beta thalassemia. Hemoglobin is a protein that carries oxygen to the body. Dna contains both the instructions for stringing amino acids together into proteins, as well as stretches of dna that play important roles in regulating produced protein. It is not an illness and will never turn into an illness. Definition beta thalassemia is an inherited red blood cell disorder that results in the complete absence or decreased synthesis of the beta globin chains of hemoglobin. Beta thalassemia is an inherited blood disorder in which the body doesnt make hemoglobin normally. It is important for people with thalassemia to learn how to stay healthy. Thalassemias occur most often among people of italian, greek, middle eastern, southern asian, and african descent.
In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. A person with thalassemia does not have enough hemoglobin or red blood cells to carry oxygen throughout the. A normal hemoglobin molecule is made up of two identical beta and two. If more than two genes are missing, moderate to severe anemia occurs. Hemoglobin is the part of red blood cells rbcs that carries oxygen throughout the body. The thalassemia trait tt results from the deletion of. The national family health survey nfhs3 of 2011 reveals the prevalence of anemia as 7080% in children, 70% in pregnant women, and 24% in adult men. Beta thalassemia is a group of genetic blood disorders that share in common the defective production of hemoglobin, similar to sickle cell.
Affected people have a different change mutation in each copy of their hbb gene. More than 200 deletions or point mutations that impair. Thalassemia is a group of inherited blood diseases that affect a persons ability to produce hemoglobin in red blood cells. Alpha thalassemia 2 trait, also called the silent carrier is an asymptomatic carrier of a single alpha gene deletion. When one parent has beta thalassemia trait and the other parent has a related blood trait hemoglobin e or hemoglobin s, there is a. Beta thalassemia cooleys anemia childrens hospital. Thalassemias are prevalent worldwide with 25,000 deaths in 20. Hemoglobin is the ironcontaining protein in red blood cells that carries oxygen to cells throughout the body. A positive family history of alpha or betathalassemia is an important indication for an individual to seek consultation as.
A person with this condition simply carries the genetic trait for thalassemia with no health problems other than a possible mild anemia cooleys anemia foundation, 2010. These cases represent sickle cell trait, although they may be confused with sickle cellbeta thalassemia because of an elevated hba2. Three clinical and hematological conditions of increasing. Unlike thalassemia major, thalassemia minor has only one defective beta globin gene. Your red blood cells contain hemoglobin, which carries oxygen from the lungs to all parts of your body. A trait carrier of thalassemia will always be a trait carrier. Hemoglobin dbeta thalassemia will not change into a disease later on. The term thalassemia is derived from the greek words thalassa sea and haema blood and refers to disorders associated with defective synthesis of. Beta thalassemia is a hereditary disease affecting hemoglobin. Or, if your partner has alpha plus thalassaemia trait, then your children might inherit hb h disease see below. Thalassemias slide 1 by the end of the lecture, the. Alpha thalassemia intermedia, or hemoglobin h disease, causes hemolytic anemia.
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