what is thalassemia crash course

What is thalassemia?

Thalassemia is an inherited blood disease within which the body makes an abnormal type of haemoglobin. It is the molecule in red blood cells that carries oxygen. The disorder ends up in excessive destruction of red blood cells, which ends up in anaemia. Anaemia could be a condition during which your body does not have normal enough, healthy red ...

What are the treatment options for thalassemia major?

Jan 01, 2015 · Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a …

What is a blood transfusion for thalassemia?

People with thalassemia minor or trait usually do not need blood transfusions because they either do not have anemia or have only a mild anemia. Many times people with thalassemia are prescribed a supplemental B vitamin, known as folic acid, to help treat anemia. Folic acid can help red blood cells develop.

How does thalassemia affect red blood cell count?

Thalassemia is a hereditary condition that affects the blood which leads to an abnormal form of haemoglobin. Haemoglobin is an important protein molecule present in RBC that carries oxygen. This disorder leads to the destruction of RBC which leads to anaemia. These range from a mild illness without symptoms to a serious or life-threatening disease.

How do you explain thalassemia?

Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalassemia, you might not need treatment.Nov 17, 2021

How can I remember thalassemia?

Mnemonic. To recall the features seen on a Peripheral Blood Smear of a Thalassemia patient, remember THAL: Target cells (most common) Howell-Jolly body.Jun 22, 2020

What is thalassemia in biology?

Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems.

What is the pathophysiology of thalassemia?

Thalassemia is a blood disorder that is caused by DNA mutations in cells that are responsible for producing hemoglobin. This leads to a reduction in the number and ability of the red blood cells to carry oxygen throughout the body and can cause sufferers to feel symptoms such as fatigue.Sep 8, 2021

Why thalassemia is called Sea blood?

Thalassemia is an inherited disease of faulty synthesis of hemoglobin. The name is derived from the Greek word "thalassa" meaning "the sea" because the condition was first described in populations living near the Mediterranean Sea; however, the disease is also prevalent in Africa, the Middle East, and Asia.

What is meaning of beta thalassemia trait?

Beta thalassemia is an inherited blood disorder in which the body doesn't make hemoglobin normally. Hemoglobin is the part of red blood cells (RBCs) that carries oxygen throughout the body. The abnormal hemoglobin can lead to anemia (not enough RBCs in the body) and other medical problems.

What are the 4 types of thalassemia?

Alpha thalassemia occurs when some or all of the 4 genes that make hemoglobin (the alpha-globin genes) are missing or damaged....There are 4 types of alpha thalassemia:Alpha thalassemia silent carrier. ... Alpha thalassemia carrier. ... Hemoglobin H disease. ... Alpha thalassemia major.

What is thalassemia according to Ncert?

Thalassemia is an inherited blood disorder wherein the body produces an inadequate amount of haemoglobin. Haemoglobin is a protein molecule that carries oxygen in the red blood cells. This disorder results in the extreme destruction of red blood cells that leads to anaemia.

What is cause of thalassemia Class 12?

In this disease, the body makes an abnormal type of haemoglobin. Thalassemia can occur even if one of the parents is the carrier of the disease. Cause: It is caused due to the modification or deletion of the important gene fragments.

Where is thalassemia most common?

Traits for thalassemia are more common in people from Mediterranean countries, like Greece and Turkey, and in people from Asia, Africa, and the Middle East. If you have anemia and you also have family members from these areas, your doctor might test your blood further to find out if you have thalassemia.

Why does thalassemia cause Hepatosplenomegaly?

Hepatomegaly can result from a number of mechanisms; extramedullary erthyropoiesis, hepatitis due to chronic transfusion associated infections, and iron overload. Caused by two major mechanisms: Destruction of the cortex leading to weakening of the bone. Secondary to Osteopenia/osteoporosis (mechanism above)

Who is susceptible to thalassemia?

Certain ethnic groups are at greater risk: Alpha thalassemia most often affects people who are of Southeast Asian, Indian, Chinese, or Filipino descent. Beta thalassemia most often affects people who are of Mediterranean (Greek, Italian and Middle Eastern), Asian, or African descent.Aug 31, 2020

1. What are the types of Thalassemia?

For the proper regulation of the oxygen in the whole body the Haemoglobin is required, and Haemoglobin is made up of two proteins, alpha, and beta....

2. Where can I find a detailed explanation of thalassemia, for the biology subject?

If you are a student and looking for a deeper understanding of Thalassemia, then you must check Vedantu. Because at Vedantu you can find complete i...

3. Why should I choose Vedantu for the explanation on Thalassemia?

As said above, Vedantu makes the difficult subject and the difficult language of science easy and accessible. It means that the complex understandi...

4. What is the Process of Thalassemia Diagnosis? Explain.

Thalassemia diagnosis requires a blood sample. It needs to be sent to the lab and tested for anemia and abnormal hemoglobin. A lab technician also...

5. What are the Consequences of Hydrops Fetalis, Which is Found in Babies?

Hydrops fetalis is a particularly severe sort of thalassemia that happens before birth. It is defined by the abnormal accumulation of fluid inside...

If I Have Thalassemia, How Does It Affect My body?

Since your body has fewer red blood cells when you have thalassemia, you may have symptoms of a low blood count, or anemia. When you have anemia, y...

How Is Thalassemia Treated?

The type of treatment a person receives depends on how severe the thalassemia is. The more severe the thalassemia, the less hemoglobin the body has...

How Do Blood Transfusions Affect My body?

People who receive a lot of blood transfusions are at risk for iron overload. Red blood cells contain a lot of iron, and over time, the iron from a...

What are the symptoms of thalassemia?

In addition to the signs and symptoms seen in intermediate thalassemia, people with severe forms of thalassemia may also experience severe anemia, poor appetite, paleness, dark urine, yellow discoloration of skin ( jaundice ), and enlarged liver or heart. [2] [1] [5]

What are the two main types of thalassemia?

There are two main types of thalassemia, alpha thalassemia and beta thalassemia, which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). Hemoglobin is made up of two different components (subunits): beta globin and alpha globin.

What causes low levels of oxygen in the blood?

This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems . [1] There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin ( jaundice ), and bone problems. [2] Beta thalassemia is caused by changes ( mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner. [3] [4] Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements. [5] [2]

Who is the intended audience for the GTR?

The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Can thalassemia cause mild anemia?

The signs and symptoms vary depending on the severity of the thalassemia. For example, people affected by milder forms of thalassemia can develop mild anemia or may have no signs or symptoms of the condition at all. Intermediate forms of thalassemia can cause mild to moderate anemia and may be associated with other health problems such as slowed ...

What is the difference between beta and alpha thalassemia?

Beta thalassemia is caused by changes ( mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner. [3] [4] Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements.

Is thalassemia autosomal recessive?

In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of hemoglobin. [3] [4] Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell.

How to tell if you have thalassemia?

Since your body has fewer red blood cells when you have thalassemia, you may have symptoms of a low blood count, or anemia. When you have anemia, you might feel tired or weak. You might also experience: 1 Dizziness 2 Shortness of breath 3 A fast heart beat 4 Headache 5 Leg cramps 6 Difficulty concentrating 7 Pale skin

What is the best vitamin for thalassemia?

Many times people with thalassemia are prescribed a supplemental B vitamin, known as folic acid, to help treat anemia. Folic acid can help red blood cells develop. Treatment with folic acid is usually done in addition to other therapies.

What is the job of the spleen?

The spleen has many other jobs. Two of the major ones are filtering the blood and monitoring the blood for certain infections. When it finds these infections, it can start the process of fighting them. When you have thalassemia, the spleen can get very big as it tries to make blood cells.

How to treat anemia?

This can be done through a blood transfusion, a safe, common procedure in which you receive blood through a small plastic tube inserted into one of your blood vessels.

Where are blood cells made?

The main place where blood cells are made is the bone marrow, the dark spongy part in the middle of bones. Because your bone marrow may be working harder than normal, it might grow bigger. This causes your bones to expand, and may stretch your bones and make them thinner and more easily broken.

Do people with thalassemia need blood transfusions?

People with thalassemia minor or trait usually do not need blood transfusions because they either do not have anemia or have only a mild anemia.

What are the symptoms of thalassemia?

Fatigue. Weakness. Pale or yellowish skin. Facial bone deformities. Slow growth. Abdominal swelling. Dark urine. Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life.

What is the cause of thalassemia?

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

How do you know if you have thalassemia?

Thalassemia signs and symptoms can include: Fatigue. Weakness. Pale or yellowish skin. Facial bone deformities. Slow growth. Abdominal swelling. Dark urine.

What is the name of the disorder that causes you to have less hemoglobin?

Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.

Can you inherit thalassemia?

You get two from each of your parents. If you inherit: One mutated gene, you'll have no signs or symptoms of thalassemia. But you are a carrier of the disease and can pass it on to your children. Two mutated genes, your thalassemia signs and symptoms will be mild. This condition might be called alpha-thalassemia trait.

Can thalassemia be treated?

If you have mild thalassemia, you might not need treatment. But more severe forms might require regular blood transfusions. You can take steps to cope with fatigue, such as choosing a healthy diet and exercising regularly.

What is thalassemia in blood?

What Is Thalassemia? Thalassemia is a hereditary condition that affects the blood which leads to an abnormal form of haemoglobin. Haemoglobin is an important protein molecule present in RBC that carries oxygen. This disorder leads to the destruction of RBC which leads to anaemia. These range from a mild illness without symptoms to a serious ...

How to diagnose thalassaemia?

Diagnosis is done through a blood test. To see what sort of haemoglobin is present in the blood, the blood sample is analyzed. In some cases, for the order to diagnose the exact type of thalassaemia, extra tests such as DNA (genetic) tests are required. When needed it can help test other family members.

Where is haemoglobin found?

Haemoglobin is found in cells that are part of the blood called red blood cells. Haemoglobin is composed of various components. The key components are called alpha chains and beta chains that are placed together to form the molecule of haemoglobin. Part of the haemoglobin in thalassemia is flawed, usually either the alpha chains or the beta chains.

What is the cause of thalassemia?

Causes Of Thalassemia. The origin is an inherited (genetic) change affecting the genes telling the body how to make a substantial chemical called haemoglobin. Haemoglobin is the oxygen-containing molecule in blood-it is the one that imparts red colour to the blood. Haemoglobin is found in cells that are part of the blood called red blood cells.

Where is beta thalassemia most prevalent?

The disease is especially prevalent in the Middle East, the Mediterranean, Africa, Central Asia, the Indian and the Far East. Individuals who come from these areas in other areas of the world are at greater risk of beta-thalassemia.

Is beta thalassemia asymptomatic?

Beta thalassemia has three forms majorly–mild, intermedia, and severe, suggesting disease severity. Those with beta-thalassemia minor typically are asymptomatic (have no symptoms) and the disorder is often not known to individuals. Individuals affected are treated by regular blood transfusions.

Can beta thalassemia cause iron overload?

Because of frequent blood transfusions, those with major and intermediate beta-thalassemia can produce excess iron levels in the body ( iron overload). This overload of iron can lead to many other symptoms affecting various systems however can be treated with medication.

When is thalassemia diagnosed?

Moderate and severe thalassemias are often diagnosed in childhood because symptoms usually appear during the first 2 years of a child's life. A complete blood count (CBC), which includes measures of hemoglobin and the quantity (and size) of red blood cells.

What is the treatment for thalassemia?

Standard treatments for patients with thalassemia major are blood transfusions and iron chelation. Blood transfusion involves injection of red blood cells through a vein to restore normal levels of healthy red blood cells and hemoglobin.

What are the different types of thalassemia?

What are the types of thalassemia? Four protein chains make up hemoglobin — 2 alpha globin and 2 beta globin chains. There are 2 major types of thalassemia – alpha thalassemia and beta thalassemia – named after defects that can occur in these protein chains.

How many genes are needed to make alpha globin?

Four genes, 2 from each parent, are required to make alpha globin protein chains. When 1 or more genes are missing, it produces alpha thalassemia. This chart describes the different types of alpha thalassemia.

What are the symptoms of beta thalassemia?

Symptoms of beta thalassemia include growth problems, bone abnormalities such as osteoporosis, and an enlarged spleen (the organ in the abdomen that plays a part in fighting infection). People with thalassemia can get too much iron in their bodies (iron overload), either from frequent blood transfusions or from the disease itself.

How many beta globin genes are there?

There are normally 2 beta globin genes, one from each parent. Beta thalassemia is a change in 1 or both of the beta globin genes. This chart describes the different types of beta thalassemia.

Can iron deficiency cause anemia?

Studies of iron will indicate whether the cause of the anemia is iron deficiency or thalassemia (iron deficiency is not the cause of anemia in people with thalassemias). Hemoglobin electrophoresis is used to diagnose beta thalassemia. Genetic testing is used to make a diagnosis of alpha thalassemia.

Overview

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• Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalassemia, you might not need treatment. But more severe forms might require regular blood transfusions. You can take steps t…

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