If you have one altered gene, then you are a carrier and usually have no symptoms or mild anemia. For language access assistance, contact the ncats public information officer. Thalassemia nursing care planning and management study guide. To determine the frequencies of beta thalassemia mutations in different states of india and to compare this with the available data in asian indians for a comprehensive catalogue of molecular. 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. Hemoglobin is the part of red blood cells rbcs that carries oxygen throughout the body. Patients of mediterranean extraction are more likely than africans to be anemic with thalassemia trait, because they tend to have beta zero thalassemia rather than beta plus thalassemia. Scientists and public health officials predict that thalassemia will become a worldwide issue in the next century. Carrier frequencies of betathalassemia vary from 1% to.
If you have problems viewing pdf files, download the latest version of adobe reader. Thalassemia patients require this blood throughout their lives. Anyone can be a carrier of thalassaemia, but its much more common in people from certain ethnic backgrounds. To determine the frequencies of betathalassemia mutations in different states of india and to compare this with the available data in asian indians for a comprehensive catalogue of molecular. Expressed as a mild microcytic, hypochromic anemia, usually in the 10 gdl range. Thalassemia trait affects 5 to 30 percent of persons in these ethnic groups scientists and public health officials predict that thalassemia will become a worldwide issue in the next century. Hemoglobin is the ironcontaining protein in red blood cells that carries oxygen to cells throughout the body. Nov 27, 2019 alpha thalassemia is characterized by genetic defects in the alphaglobin gene, and this variant has features similar to beta thalassemia see diagnostic considerations. Betathalassemic syndromes are frequent in romania, and the southeast part of our country seems to be the most affected by this kind of genetic abnormality. Beta thalassemia trait is common in people whose ancestors came from africa, asia, the middle east, or the mediterranean region.
The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Beta thalassemia is a condition that affects the red blood cells. Beta thalassemia is a blood disorder that reduces the production of hemoglobin. If you need to, you can download the acrobat reader here. The child born with thalassemia major has two genes for beta thalassemia and no normal beta chain gene. There is a 75% or 3 in 4 chance that the baby will not have this disease. It is caused by variant or missing genes that affect how the body make haemoglobin. Betathalassemia genetic and rare diseases information. When one parent has beta thalassemia trait and the other parent has a related blood trait hemoglobin e or hemoglobin s, there is a. Most persons with thalassemia trait are found incidentally when their complete blood count shows a 10mild microcytic anemia. The diagnostic hallmark of the beta thalassemia trait on hemoglobin analysis is an elevated relative percentage of hb a2. Unlike thalassemia major, thalassemia minor has only one defective beta globin gene.
Beta thalassemia disease can only happen when both parents have beta thalassemia trait. Thalassemia trait association with autoimmune diseases. Knowing that you carry the trait for thalassemia can prevent you. Klf1 mutations are relatively more common in a thalassemia endemic region and ameliorate. Beta thalassemia major occurs when a baby inherits two mutated or altered genes, each of which carries the thalassemia trait. 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. Your red blood cells contain hemoglobin, which carries oxygen. The parents of a person with an autosomal recessive condition each carry one copy of. Or, if your partner has alpha plus thalassaemia trait, then your children might inherit hb h disease see below. However, elevation of hb a2 is not universal in all beta thalassemia traits. Guidelines for investigation of the alpha and beta thalassaemia traits. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal,result in mild or.
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. It is possible for a person of any nationality to have beta. This means you have one abnormal betahaemoglobin gene out of the normal two beta genes. When a trait carrier has a blood test, their red blood cells may appear smaller than what is normal. Introduction thalassemia is an inherited autosomal recessive blood disorder. Thalassemia major continues to be a significant health problem for mediterranean, afroarabic countries, india and south easth asia. It is based on those in use at the whittington hospital london document detail document type clinical guideline document name.
It is a genetic trait passed down from parents to children. Beta thalassemia trait is also known as beta thalassemia minor. Beta thalassemia trait is inherited from ones parents, like hair or eye color. 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. Is the beta thalassaemia trait of clinical importance. Individuals with beta thalassemia trait or beta thalassemia minor are heterozygous for beta thalassemia, or simply a carrier of beta thalassemia. Tell your partner that you carry beta thalassaemia, and ask him or her to have a blood test for haemoglobinopathy. Assessment hepatomegaly and liver enzymes in 100 patients. Available sparse data indicate reduced incidence of systemic lupus erythematosus sle in.
When both parents have beta thalassemia trait, there is a 25% or 1 in 4 chance in each. Thalassemias slide 1 by the end of the lecture, the student. Nonetheless, increasing number of reports associate. Jul 17, 2018 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. When both parents have beta thalassemia trait, there is. Beta thalassemia is a companion course to alpha thalassemia. This course defines and discusses the disorder beta thalassemia and its genetic mutations that not only differentiate it from alpha thalassemia, but dictate the severity of the disease. If you have only one duff copy then it could actually protect you from blood parasites like malaria.
Slide 1 thalassemias slide 2 lecture outline by the end of the lecture, the student should know. Red blood cell morpho logy is altered in patients with all forms of thalassemia. There are two main forms of thalassemia that are more serious. Babies who have hemoglobin dbeta thalassemia are no more likely to get sick than any other baby. Those who have minor degrees of thalassemia, similar to those with sicklecell trait, have some protection against malaria, explaining why they are more. The abnormal hemoglobin can lead to anemia not enough rbcs in the body and other medical problems. Betathalassemia occurs in 1 in 25,000 births in north america. A trait carrier of thalassemia will always be a trait carrier. The different types of hemoglobin present at different ages.
Betathalassemia major and betathalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the hbb gene in each cell have mutations. Patients with this disorder have normal hb a2 levels. Thalassemias are inherited blood disorders characterized by decreased hemoglobin. The thalassemia trait tt results from the deletion of. Thalassemia 16% 52 hb e talassemia trait 21% 71 hb e disease 2% 5. Guidelines on diagnosis and management summary these comprehensive guidelines are intended for use as a reference for medical, nursing staff and all health care professionals. This distribution suggests that the socalled inter acting type of thalassemia is allelic with or closely linked to the hbp hb a 2. This rule will usually not apply in cases of beta thalassemia, particularly beta thalassemia minor where the rbcs are not normochromic and are microcytic, and where there is a disproportionate number of rbcs for the amount of hemoglobin that is present. Establishing the diagnosis of the alpha thalassemia trait requires measuring either the alpha beta chain synthesis ratio. In canada, the blood supply today is safer than it ever has been, but 100% safety cannot be guaranteed. The term thalassemia is derived from the greek, thalassa sea and haima blood.
These syndromes are divided into three main categories. My baby has hemoglobin dbeta thalassemia your babys newborn screening test showed that he or she has hemoglobin dbeta thalassemia. The absence ofthe absence of hb h inclusions therefore does not excludeh inclusions therefore does not exclude thalassemia trait, but the presence of typical inclusions may be helpful in confirming a presumptive diagnosis. Thalassemia major, variably referred to as cooleys anemia and mediterranean anemia, thalassemia intermedia and thalassemia minor also called betathalassemia carrier, betathalassemia trait or. Three clinical and hematological conditions of increasing. Beta thalassemia major texas department of state health. Depending on the type of beta thalassemia, symptoms. Frequency of the hepatomegaly, liver enzymes alt and ast, hb, ferritin, deferoxamine dosage, age of splenectomy, and age of starting deferoxamine were extracted from the files. My baby has hemoglobin dbeta thalassemia what does this mean. Thalassemia minoroccurs if patient only has one defective.
Over two million people in the united states carry the genetic trait for thalassemia. If your web browser may not display the document correctly, rightclick over the link and select save as to save it on your computer. Medical records of all patients aged between 2 18 years were used from 400 records of major beta thalassemia patients in sarvar clinic, which were 100 cases. A normal hemoglobin molecule is made up of two identical beta and two. 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. If you have two duff copies of the beta haemoglobin gene then youll have quite serious thalassaemia. Dna contains both the instructions genes for stringing amino acids together into proteins, as well as stretches of dna. Hematologic findings for various types of beta thalassemia. Hemoglobin dbeta thalassemia will not change into a disease later on. Translations of brochures about thalassemia, thalassemia trait, and hemoglobin h disease are. The normality of the one potential crossover in this series was apparently in doubt. The child born with thalassemia major has two genes for beta thalassemia and no normal betachain gene. Thalassaemia intermedia, guidelines on diagnosis and.
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. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. If the gene from one parent is missing or incomplete, the child will develop betathalassemia minor. Hemoglobin is the protein molecule in red blood cells that carries oxygen. Microcytic anemia can be caused by iron deficiency, thalassemia, lead. This means you have one abnormal beta haemoglobin gene out of the normal two beta genes. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal,result in mild or severe anemia. The only way to know if you carry the thalassemia trait is to have a special blood test called hemoglobin. Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. The following are pdf formatted files in various languages. In thalassemia minor, the hemoglobin genes are inherited during conception, one from the mother egg and one from the father sperm. In this condition, the hb a2 is typically 48% with a mean of about 56%.
Thalassemia major 2% 7 unknown 0% 1 patient diagnose as different variety of thalassemia by dna analysis in bsmmu during the period of sept 2007 to aug 2016 total332 56. Premawardhena a, arambepola m, katugaha n, weatherall dj. These cases represent sickle cell trait, although they may be confused with sickle cellbeta thalassemia because of an elevated hba2. The paper beta thalassemia trait epidemiological and clinical. This causes a striking deficiency in beta chain production and in the production of hb a.
Thalassemia minor is a less serious form of the disorder. 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. Thalassemia major cooley anemiaoccurs if patient has two defective. People with a thalassemia trait in one gene are known as carriers or are said to have t halassemia minor. This trait can only cause a problem if your partner has alpha zero thalassaemia trait in which case your children might inherit hbh disease explained below. Alpha thalassemia trait and beta thalassemia trait. This rule will usually not apply in cases of beta thalassemia, particularly beta thalassemia minor where the rbcs are not normochromic and are microcytic, and where there is a disproportionate number of. Thalassemia trait american journal of clinical pathology. What should you do if you are thinking of having children. However, each child has a 50% or 1 in 2 chance to inherit beta thalassemia trait from the parent. The beta chain requires a gene from each parent to produce the correct quality and quantity of beta globin.
Normally, beta thalassemia trait does not cause any health problems. Get a printable copy pdf file of the complete article 1. My baby has hemoglobin dbeta thalassemia what does this. A person who carries beta thalassaemia can only have a child with an inherited anaemia if their partner is also a carrier of a haemoglobin variant or trait. Thalassemia in arab populations alpha and beta thalassemia are endemic in almost all arab countries probably due to the historical presence of malaria in the region and the high level of consanguinity. Thalassemia in arab populations alpha and betathalassemia are endemic in almost all arab countries probably due to the historical presence of malaria in the region and the high level of consanguinity. Beta thalassemia major and beta thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the hbb gene in each cell have mutations. This means that you have one missing alpha haemoglobin gene.
Klf1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of. Beta thalassemia trait and beta thalassemia disease. Beta thalassemia is an inherited blood disorder in which the body doesnt make hemoglobin normally. This is sometimes referred to as the rule of threes. Carrier frequencies of beta thalassemia vary from 1% to 5% while prevalence data for alpha thalassemia are scant. Pdf significance of red blood cell indices in beta. 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. Genotypephenotype thalassemia malaysia treatment options pathophysiology of anemia in betathalassemia thalassemia is a disorder of haemoglobin synthesis which is characterized by the absence or reduced synthesis of globin chains, a. Being a carrier of the trait is sometimes known as having the thalassaemia trait or. Beta thalassemia is a hereditary disease affecting hemoglobin. People with beta thalassemia trait do not develop beta thalassemia disease or sickle cell disease later in life. Hemoglobin hb is the molecule that carries and transports oxygen all through the body. Issues related to the safety and supply of red blood cells directly concern thalassemia patients. Laboratory diagnosis oflaboratory diagnosis of thalassemia.
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