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Thalassemia Tips

Thalassaemia : How To Understand It?

Dr. Dwijendra Prasad 90% (315 ratings)
MBBS, MD , DiP DIAB, FACP
General Physician, Bangalore
Thalassaemia : How To Understand It?

Thalassaemia, which is commonly referred to as thal, is a disorder of the blood which is inherited from the previous generation. This condition triggers the production of abnormal red blood cells in the body which in turn paves the way for chronic anaemia. Red blood cells play an indispensable role in carrying oxygen all through the body and hence any abnormality in this regard can result in thalassemia, the symptoms of which include, weakness all over the body, fatigue, faint and shortness of breath.

Understanding the type of thalassemia:
Thalassaemia is often thought to be an iron deficiency disease (anaemia), but can be differentiated with the aid of certain blood tests. This disease is a lifelong condition which requires efficient management. The type of thalassemia an individual is suffering from can be attributed to the number of faulty genes the person has inherited.

The two variants of thalassaemia are beta and alpha. In the case of alpha thalassemia, having one faulty gene would lead to no health problems while two faulty genes can cause mild anaemia. If there are three mutated genes, it will cause Haemoglobin H disease, and regular blood transfusions may be required. But an unborn child with four mutated genes will not be viable enough to survive the pregnancy.

The beta thalassaemia also comes in various forms. The beta thalassaemia major needs lifelong transfusion of blood and it is the most common form of thalassaemia across the world. The beta thalassemia intermedia do not have to depend on blood transfusion.

Any kind of Microcytic Anemia has to be evaluated properly with an iron profile, peripheral smear and a Hemoglobin electrophoresis, if we have evidence of hemolysis in peripheral smear.



Treating thalassaemia:
The treatment option for mild thalassaemia is entirely dependent on the type of the disease and how intense it is. When the disease is on a mild and minor level, then there may not be need of any comprehensive treatment. But at times, blood transfusions become necessary especially after undergoing surgery or when the thalassaemia causes complications.

People who are affected by severe levels of beta thalassaemia will require transfusion of blood from time to time. The treatment also causes an overload of iron and thus, it is important to remove the surplus iron content. There are several oral medications available for this, and the healthcare provider can recommend suitable medications.

Managing moderate to severe thalassaemia:
Some of the most general methods of managing and treating thalassaemia include:

  1. Frequent blood transfusions: When the thalassaemia gets too severe, it becomes necessary to opt for blood transfusion after every few weeks. The blood transfusion can cause iron build up with the passage of time. This, in turn, can affect the heart and lungs along with other crucial organs. Therefore, it is important to take medicines that can eliminate the extra iron.
  2. Stem cell transplant: Also referred to as the bone marrow transplant, the stem cell transplant can be the best bet. It is recommended for kids who are born with severe thalassaemia. This treatment option can mitigate the need of a lifelong transfusion of blood and intake of drugs for controlling the iron overload.

Thallasemia generally occurs in pockets like in Haryana, Punjab, Delhi, Uttar Pradesh, Chhattisgarh, etc. The concerned state units of these states need to take guidance from doctors for definite treatment which is bone marrow transplant.

3346 people found this helpful

Thalassemia - Types, Causes And Symptoms!

Dr. Lalit Raut 89% (14 ratings)
Fellowship In Leukemia & Stem Cell Transplant, DM - Clinical Haematology, MD - Medicine
Hematologist, Nagpur
Thalassemia - Types, Causes And Symptoms!

Thalassemia is a genetic (i.e., passed from parents to children through genes) blood disorder. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.

There are two types of Thalassemia disease- 

  1. Alpha Thalassemia disease: There are two main types of Alpha Thalassemia disease. Alpha Thalassemia Major is a very serious disease in which severe anemia begins even before birth. Pregnant women carrying affected fetuses are themselves at risk for serious pregnancy and delivery complications. Another type of Alpha Thalassemia is Hemoglobin H disease. There are varying degrees of Hemoglobin H disease.
  2. Beta Thalassemia disease: Beta Thalassemia Major (also called Cooley's Anemia) is a serious illness. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow. Proper treatment includes routine blood transfusions and other therapies.

Causes of Thalassemia-

Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.

If only one of the parents is a carrier for thalassemia, the child may develop a form of the disease known as thalassemia minor. If this occurs, the born child probably won’t have symptoms, but he/she will be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.

If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.

Symptoms-

The symptoms depend on the type of thalassemia:

  • Thalassemia Minor: Thalassemia minor usually doesn’t cause any symptoms. If it does, it causes minor anemia.
  • Beta-thalassemia: Beta-thalassemia comes in two serious types, which are thalassemia major, or Cooley’s anemia, and thalassemia intermedia. The symptoms of thalassemia major generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include:
    • fussiness
    • paleness
    • frequent infections
    • a poor appetite
    • failure to thrive
    • jaundice, which is a yellowing of the skin or the whites of the eyes
    • enlarged organs

This form of thalassemia is usually so severe that it requires regular blood transfusions.

  • Alpha-thalassemia: Alpha-thalassemia also has two serious types, which are hemoglobin H disease and hydrops fetalis. Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. Hemoglobin H disease can cause:
    • jaundice, which is a yellowing of the skin or the whites of the eyes
    • an extremely enlarged spleen
    • malnourishment

Hydrops fetalis is an extremely severe form of thalassemia. It occurs before birth. Most individuals with this condition are either stillborn or die shortly after being born.

How is thalassemia diagnosed?

Thalassaemia is often detected during pregnancy or soon after birth.

  1. Screening during pregnancy: Screening to check if a baby is at risk of being born with thalassemia is offered to all pregnant women.
  2. Testing after birth or later in life: Newborn babies aren't routinely tested for thalassemia because the test used isn't always reliable soon after birth and the condition isn't immediately dangerous. However, the main form of the condition – beta thalassemia major – is often picked up as part of the newborn blood spot test (heel prick). A blood test can be carried out at any point to diagnose the condition if a child or adult has symptoms of thalassemia and the condition wasn't picked up earlier on.
  3. Testing for the Thalassemia Trait- A blood test can be done at any time to find out if you have the thalassemia trait and are at risk of having a child with the condition. This can be particularly useful if you have a family history of the condition or your partner is known to carry thalassemia.

If your child has thalassemia, blood tests may reveal:

  1. A low level of red blood cells
  2. Smaller than expected red blood cells
  3. Pale red blood cells
  4. Red blood cells that are varied in size and shape
  5. Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope

Blood tests may also be used to:

  1. Measure the amount of iron in your child's blood
  2. Evaluate his or her hemoglobin
  3. Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes

Treatment for Thalassemia-

The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case.

Some of the utilized treatments include:

  • blood transfusions
  • a bone marrow transplant (BMT)
  • medications and supplements
  • possible surgery to remove the spleen or gallbladder

Diagnosing Thalassemia - How Can It Be Done?

Dr. Avinash Singh 88% (24 ratings)
MBBS Bachelor of Medicine and Bachelor of Surgery, MD - Medicine, DM - Clinical Hematology
Hematologist, Patna
Diagnosing Thalassemia - How Can It Be Done?

Thalassemia is a genetic (i.e., passed from parents to children through genes) blood disorder. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.

There are two types of Thalassemia disease- 

  1. Alpha Thalassemia disease: There are two main types of Alpha Thalassemia disease. Alpha Thalassemia Major is a very serious disease in which severe anemia begins even before birth. Pregnant women carrying affected fetuses are themselves at risk for serious pregnancy and delivery complications. Another type of Alpha Thalassemia is Hemoglobin H disease. There are varying degrees of Hemoglobin H disease.
  2. Beta Thalassemia disease: Beta Thalassemia Major (also called Cooley's Anemia) is a serious illness. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow. Proper treatment includes routine blood transfusions and other therapies.

Causes of Thalassemia-

Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.

If only one of the parents is a carrier for thalassemia, the child may develop a form of the disease known as thalassemia minor. If this occurs, the born child probably won’t have symptoms, but he/she will be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.

If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.

Symptoms-

The symptoms depend on the type of thalassemia:

  • Thalassemia Minor: Thalassemia minor usually doesn’t cause any symptoms. If it does, it causes minor anemia.
  • Beta-thalassemia: Beta-thalassemia comes in two serious types, which are thalassemia major, or Cooley’s anemia, and thalassemia intermedia. The symptoms of thalassemia major generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include:
    • fussiness
    • paleness
    • frequent infections
    • a poor appetite
    • failure to thrive
    • jaundice, which is a yellowing of the skin or the whites of the eyes
    • enlarged organs

This form of thalassemia is usually so severe that it requires regular blood transfusions.

  • Alpha-thalassemia: Alpha-thalassemia also has two serious types, which are hemoglobin H disease and hydrops fetalis. Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. Hemoglobin H disease can cause:
    • jaundice, which is a yellowing of the skin or the whites of the eyes
    • an extremely enlarged spleen
    • malnourishment

Hydrops fetalis is an extremely severe form of thalassemia. It occurs before birth. Most individuals with this condition are either stillborn or die shortly after being born.

How is thalassemia diagnosed?

Thalassaemia is often detected during pregnancy or soon after birth.

  1. Screening during pregnancy: Screening to check if a baby is at risk of being born with thalassemia is offered to all pregnant women.
  2. Testing after birth or later in life: Newborn babies aren't routinely tested for thalassemia because the test used isn't always reliable soon after birth and the condition isn't immediately dangerous. However, the main form of the condition – beta thalassemia major – is often picked up as part of the newborn blood spot test (heel prick). A blood test can be carried out at any point to diagnose the condition if a child or adult has symptoms of thalassemia and the condition wasn't picked up earlier on.
  3. Testing for the Thalassemia Trait- A blood test can be done at any time to find out if you have the thalassemia trait and are at risk of having a child with the condition. This can be particularly useful if you have a family history of the condition or your partner is known to carry thalassemia.

If your child has thalassemia, blood tests may reveal:

  1. A low level of red blood cells
  2. Smaller than expected red blood cells
  3. Pale red blood cells
  4. Red blood cells that are varied in size and shape
  5. Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope

Blood tests may also be used to:

  1. Measure the amount of iron in your child's blood
  2. Evaluate his or her hemoglobin
  3. Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes

Treatment for Thalassemia-

The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case.

Some of the utilized treatments include:

  • blood transfusions
  • a bone marrow transplant (BMT)
  • medications and supplements
  • possible surgery to remove the spleen or gallbladder

In case you have a concern or query you can always consult an expert & get answers to your questions!

2583 people found this helpful

World Thalassaemia Day - How This Disorder Can Be Managed?

Dr. Vikas Mittal 84% (16 ratings)
MBBS, MD - Internal Medicine
General Physician, Jaipur
World Thalassaemia Day - How This Disorder Can Be Managed?

Thalassaemia, which is commonly referred to as thal, is a disorder of the blood which is inherited from the previous generation. This condition triggers the production of abnormal red blood cells in the body which in turn paves the way for chronic anaemia. Red blood cells play an indispensable role in carrying oxygen all through the body and hence any abnormality in this regard can result in thalassemia, the symptoms of which include, weakness all over the body, fatigue, faint and shortness of breath.

Understanding the type of thalassemia:
Thalassaemia is often thought to be an iron deficiency disease (anaemia), but can be differentiated with the aid of certain blood tests. This disease is a lifelong condition which requires efficient management. The type of thalassemia an individual is suffering from can be attributed to the number of faulty genes the person has inherited.

The two variants of thalassaemia are beta and alpha. In the case of alpha thalassemia, having one faulty gene would lead to no health problems while two faulty genes can cause mild anaemia. If there are three mutated genes, it will cause Haemoglobin H disease, and regular blood transfusions may be required. But an unborn child with four mutated genes will not be viable enough to survive the pregnancy.

The beta thalassaemia also comes in various forms. The beta thalassaemia major needs lifelong transfusion of blood and it is the most common form of thalassaemia across the world. The beta thalassemia intermedia do not have to depend on blood transfusion.

Treating thalassaemia:
The treatment option for mild thalassaemia is entirely dependent on the type of the disease and how intense it is. When the disease is on a mild and minor level, then there may not be need of any comprehensive treatment. But at times, blood transfusions become necessary especially after undergoing surgery or when the thalassaemia causes complications.


People who are affected by severe levels of beta thalassaemia will require transfusion of blood from time to time. The treatment also causes an overload of iron and thus it is important to remove the surplus iron content. There are several oral medications available for this, and the healthcare provider can recommend suitable medications.

Managing moderate to severe thalassaemia:
Some of the most general methods of managing and treating thalassaemia include

  1. Frequent blood transfusions: When the thalassaemia gets too severe, it becomes necessary to opt for blood transfusion after every few weeks. The blood transfusion can cause iron build up with the passage of time. This, in turn, can affect the heart and lungs along with other crucial organs. Therefore, it is important to take medicines that can eliminate the extra iron.
  2. Stem cell transplant: Also referred to as the bone marrow transplant, the stem cell transplant can be the best bet. It is recommended for kids who are born with severe thalassaemia. This treatment option can mitigate the need of a lifelong transfusion of blood and intake of drugs for controlling the iron overload.
2995 people found this helpful

What Exactly Is Thalassaemia How Can It Be Treated?

Dr. R. Melitha 91% (296 ratings)
MBBS Bachelor of Medicine and Bachelor of Surgery, MBA - Health Care Administration
General Physician, Delhi
What Exactly Is Thalassaemia How Can It Be Treated?

Thalassaemia, which is commonly referred to as thal, is a disorder of the blood which is inherited from the previous generation. This condition triggers the production of abnormal red blood cells in the body which in turn paves the way for chronic anaemia. Red blood cells play an indispensable role in carrying oxygen all through the body and hence any abnormality in this regard can result in thalassemia, the symptoms of which include, weakness all over the body, fatigue, faint and shortness of breath.

Understanding the type of thalassemia:
Thalassaemia is often thought to be an iron deficiency disease (anaemia), but can be differentiated with the aid of certain blood tests. This disease is a lifelong condition which requires efficient management. The type of thalassemia an individual is suffering from can be attributed to the number of faulty genes the person has inherited.

The two variants of thalassaemia are beta and alpha. In the case of alpha thalassemia, having one faulty gene would lead to no health problems while two faulty genes can cause mild anaemia. If there are three mutated genes, it will cause Haemoglobin H disease, and regular blood transfusions may be required. But an unborn child with four mutated genes will not be viable enough to survive the pregnancy.

The beta thalassaemia also comes in various forms. The beta thalassaemia major needs lifelong transfusion of blood and it is the most common form of thalassaemia across the world. The beta thalassemia intermedia do not have to depend on blood transfusion.

Treating thalassaemia:
The treatment option for mild thalassaemia is entirely dependent on the type of the disease and how intense it is. When the disease is on a mild and minor level, then there may not be need of any comprehensive treatment. But at times, blood transfusions become necessary especially after undergoing surgery or when the thalassaemia causes complications.


People who are affected by severe levels of beta thalassaemia will require transfusion of blood from time to time. The treatment also causes an overload of iron and thus it is important to remove the surplus iron content. There are several oral medications available for this, and the healthcare provider can recommend suitable medications.

Managing moderate to severe thalassaemia:
Some of the most general methods of managing and treating thalassaemia include

 

  1. Frequent blood transfusions: When the thalassaemia gets too severe, it becomes necessary to opt for blood transfusion after every few weeks. The blood transfusion can cause iron build up with the passage of time. This, in turn, can affect the heart and lungs along with other crucial organs. Therefore, it is important to take medicines that can eliminate the extra iron.
  2. Stem cell transplant: Also referred to as the bone marrow transplant, the stem cell transplant can be the best bet. It is recommended for kids who are born with severe thalassaemia. This treatment option can mitigate the need of a lifelong transfusion of blood and intake of drugs for controlling the iron overload.
4605 people found this helpful

Thalassemia In Children - 4 Ways It Can Be Treated!

Dr. S. Gupta 88% (40 ratings)
MBBS Bachelor of Medicine and Bachelor of Surgery, BCH, DNB - Training, PDCC - Pediatric Hepatology & Gastroenterology
Pediatrician, Gurgaon
Thalassemia In Children - 4 Ways It Can Be Treated!

Thalassemia is a type of a disease, resulting in the abnormal production of hemoglobin in the blood. Hemoglobin stimulates oxygen circulation all over the body. Therefore, a dip in the hemoglobin count can lead to anemia, a disease inducing weakness as well as fatigue. Acute anemia can take a toll on the organs and ultimately cause death.

Severe thalassemia in children yields symptoms, such as dark urine, abdominal swelling, slow growth, jaundice, a pale appearance and deformed skull bones. Diarrhea, frequent fevers and eating disorders are also common.

Treatment:

  1. Blood transfusions: Regular blood transfusion is the only treatment needed for beta thalassemia aiming to keep sufficient Hb level to avoid long-term complications, though bone marrow transplant is radical cure for the disease.
  2. Iron chelation therapy: The hemoglobin in the red blood cells is rich in iron-protein that gets deposited in the blood with regular blood transfusion. This condition is known as iron overload as it damages heart, liver and various parts of the body. Iron chelation therapy is used to prevent this damage as it helps to remove the excess iron from the body.  Deferoxamine and Deferasirox are two such medicines used for this therapy.
  3. Folic acid supplements: Folic acid being a B vitamin produces healthy red blood cells and is therefore recommended as a substitute for the above procedures.
  4. Transplant of blood and marrow stem cell: A blood and a marrow (a substance within the cavities of bones where blood cells are produced) transplant replaces the faulty stem cells with healthy ones contributed by a donor.

In case you have a concern or query you can always consult an expert & get answers to your questions!

3954 people found this helpful

Diseases Cured By Haematology And Tests Involved

Dr. Premitha R 88% (59 ratings)
MBBS Bachelor of Medicine and Bachelor of Surgery, Diploma In Medical Radio Therapy, DNB
Oncologist, Bangalore
Diseases Cured By Haematology And Tests Involved

The study of blood and blood vessels is known as haematology. Doctors or scientists who study blood, in general, are known as haematologists. They are the ones who focus on blood health and blood disorders. The blood is composed of white blood cells (WBCs), red blood cells(RBCs) and platelets. Some of the organs that helps in transporting blood to other parts of the body include the blood vessels, lymph nodes, bone marrow and spleen. Proteins too actively participate in clotting and bleeding.

Diseases Treated by Haematology
Haematology treats an array of diseases including, but not limited to, the following:

  1. Anaemia due to deficiency of iron, trauma related problems, sickle cell etc.
  2. Myelofibrosis
  3. Excessive production of RBC
  4. Multiple myeloma
  5. Bone marrow and stem cell transportation
  6. Platelet-related disorder such as Von Willebrand disease, idiopathic thrombocytopenic purpura, haemophilia etc.
  7. Haemoglobinopathies condition such as the sickle cell disease and thalassemia
  8. Leukaemia
  9. Malignant lymphomas
  10. Blood transfusion
  11. Myelodysplastic syndromes

Common tests involved in haematology

  1. Blood count- This test is done to get an idea about the total number of platelets, red blood cells, and white blood cells.
  2. Blood film- In this test, blood is stained with specific dyes and placed under a microscope to view the size, shape and the total number of blood cells. It also reveals any abnormalities that may be present in the blood. Staining can flag red blood cells that are deformed in nature. It can further flag conditions such as microfiliariasis, malaria and toxoplasmosis.
  3. Blood test – It is done to assess granulocytosis and storage diseases. Bone marrow examination can also be done through blood tests. .
  4. Blood work - Assessment of immature platelets, evaluation of erythrocyte sedimentation rate (ESR) and spleen biopsycan be carried out with blood work.
  5. Tests such as serum ferritin, folate levels, and vitamin B12 can reveal the iron status of a person.
  6. Certain tests such as the antiglobulin or Coombs' can be done before blood matching or blood typing is done.
  7. ProthrombinThis test is used to find out platelet function.
  8. A test known as the diascopy is performed to find out whether a lesion is haemorrhagic, vascular or non-vascular
  9. Immunocytochemical technique, a type of blood technique, is used to conduct antigen detection.
  10. Haematology testsare used for assessinghaemophagocytic syndrome.
  11. Karyotyping is done to detect any disorder of the chromosome.
  12. Fine needle aspiration cytology(FNAC) is a diagnostic method used to detect tumour.

In case you have a concern or query you can always consult an expert & get answers to your questions!

1776 people found this helpful

Thalassemia - What Exactly Is It?

Dr. Ankur Mittal 90% (164 ratings)
MBBS, MD, FICH
Hematologist, Ludhiana
Thalassemia - What Exactly Is It?

Thalassemia is a genetically inherited blood disorder in which the body starts producing an abnormal form of hemoglobin. This hemoglobin gets destroyed by natural immunity, and ultimately leads to anemia.

What is the prevalence of Thalassemia?

Beta thalassemia is particularly prevalent among Mediterranean peoples, and due to this geographical association, it is also known as Mediterranean anemia. It is also commonly seen in Greece, Turkey, and Italy. In India, it is more commonly seen in Jain and Gujarati community.

Why does it occur?

Genetic mutation of the gene which is concerned with hemoglobin production is the major cause of it. This mutant gene is generally inherited from the parents. If both the parents transmit mutated gene to the offspring, then the offering will surely develop thalassemia, and if only one parent transmits mutant gene, then the offspring will become only carrier of the disease. He/she will not get the symptoms of the disease or very rarely he may get symptoms but in minor form.

Types of Thalassemia-

The globin part of hemoglobin includes alpha and beta globin. There are two main types of thalassemia, and they are as follows:

  1. Beta thalassemia: Beta thalassemia occurs when there is a defect in the production of beta globin. Beta thalassemia major is caused when there is no functional beta chain production. This is the most severe form. In beta thalassemia intermedia, some amount of hemoglobin A is produced. Beta thalassemia minor is caused when only one of the two beta globin alleles contains a mutation, so beta chain production is not terribly compromised.
  2. Alpha thalassemia: Alpha thalassemia occurs when the body cannot make alpha globin. It has two subtypes and they are as follows:
  3. Hemoglobin H: It develops when a person is missing three alpha globin genes.
  4. Hydrops fetalis: It develops when all the four alpha globin genes are altered or missing.

Symptoms of Thalassemia-

  • Enlarged organs, such as spleen and liver
  • Chest pain, cold hands and feet, shortness of breath, leg cramps, and rapid heartbeat
  • Delayed growth
  • Headaches, dizziness, and faintness
  • Failure to thrive in newborn
  • Pale or jaundiced skin
  • Frequent infections
  • A poor appetite

How to diagnose it?

Diagnosis can be made by following test:

  1. A complete blood count (CBC): To check hemoglobin level and size of red blood cells
  2. A reticulocyte count: To assist the pace at which reticulocytes are produced
  3. Genetic testing: To find out the faulty gene

What is the treatment available for it?

It includes:

  • Blood transfusions and bone marrow transplant
  • Medications, vitamin supplements, and iron supplements
  • Surgery to remove the spleen and gallbladder
  • Chelation therapy to remove excess of iron and other heavy metals

In case you have a concern or query you can always consult an expert & get answers to your questions!

2670 people found this helpful

Thalassemia - How This Can Be Diagnosed?

Dr. Arijit Nag 92% (191 ratings)
MBBS, MD - Internal Medicine, MRCP (UK), DM - Clinical Haematology
Hematologist, Kolkata
Thalassemia - How This Can Be Diagnosed?

Thalassemia is a genetic (i.e., passed from parents to children through genes) blood disorder. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.

There are two types of Thalassemia disease

  1. Alpha Thalassemia disease: There are two main types of Alpha Thalassemia disease. Alpha Thalassemia Major is a very serious disease in which severe anemia begins even before birth. Pregnant women carrying affected fetuses are themselves at risk for serious pregnancy and delivery complications. Another type of Alpha Thalassemia is Hemoglobin H disease. There are varying degrees of Hemoglobin H disease.
  2. Beta Thalassemia disease: Beta Thalassemia Major (also called Cooley's Anemia) is a serious illness. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow. Proper treatment includes routine blood transfusions and other therapies.

Causes of Thalassemia-

Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.

If only one of the parents is a carrier for thalassemia, the child may develop a form of the disease known as thalassemia minor. If this occurs, the born child probably won’t have symptoms, but he/she will be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.

If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.

Symptoms

The symptoms depend on the type of thalassemia:

  • Thalassemia Minor: Thalassemia minor usually doesn’t cause any symptoms. If it does, it causes minor anemia.
  • Beta-thalassemia: Beta-thalassemia comes in two serious types, which are thalassemia major, or Cooley’s anemia, and thalassemia intermedia. The symptoms of thalassemia major generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include:
    • fussiness
    • paleness
    • frequent infections
    • a poor appetite
    • failure to thrive
    • jaundice, which is a yellowing of the skin or the whites of the eyes
    • enlarged organs

This form of thalassemia is usually so severe that it requires regular blood transfusions.

  • Alpha-thalassemia: Alpha-thalassemia also has two serious types, which are hemoglobin H disease and hydrops fetalis. Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. Hemoglobin H disease can cause:

    • jaundice, which is a yellowing of the skin or the whites of the eyes
    • an extremely enlarged spleen
    • malnourishment

Hydrops fetalis is an extremely severe form of thalassemia. It occurs before birth. Most individuals with this condition are either stillborn or die shortly after being born.

How is thalassemia diagnosed?

Thalassaemia is often detected during pregnancy or soon after birth.

  1. Screening during pregnancy: Screening to check if a baby is at risk of being born with thalassemia is offered to all pregnant women.
  2. Testing after birth or later in life: Newborn babies aren't routinely tested for thalassemia because the test used isn't always reliable soon after birth and the condition isn't immediately dangerous. However, the main form of the condition – beta thalassemia major – is often picked up as part of the newborn blood spot test (heel prick). A blood test can be carried out at any point to diagnose the condition if a child or adult has symptoms of thalassemia and the condition wasn't picked up earlier on.
  3. Testing for the Thalassemia Trait- A blood test can be done at any time to find out if you have the thalassemia trait and are at risk of having a child with the condition. This can be particularly useful if you have a family history of the condition or your partner is known to carry thalassemia.

If your child has thalassemia, blood tests may reveal:

  1. A low level of red blood cells
  2. Smaller than expected red blood cells
  3. Pale red blood cells
  4. Red blood cells that are varied in size and shape
  5. Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope

Blood tests may also be used to:

  1. Measure the amount of iron in your child's blood
  2. Evaluate his or her hemoglobin
  3. Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes

Treatment for Thalassemia-

The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case.

Some of the utilized treatments include:

  • blood transfusions
  • a bone marrow transplant (BMT)
  • medications and supplements
  • possible surgery to remove the spleen or gallbladder

In case you have a concern or query you can always consult an expert & get answers to your questions!

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Haematology - Diseases Cured By It and Tests Involved

Dr. Sajjan Rajpurohit 85% (37 ratings)
MBBS, MD - Oncology, DNB - Super Speciality, Immuno Oncology
Oncologist, Delhi
Haematology - Diseases Cured By It and Tests Involved

The study of blood and blood vessels is known as haematology. Doctors or scientists who study blood, in general, are known as haematologists. They are the ones who focus on blood health and blood disorders. The blood is composed of white blood cells (WBCs), red blood cells(RBCs) and platelets. Some of the organs that helps in transporting blood to other parts of the body include the blood vessels, lymph nodes, bone marrow and spleen. Proteins too actively participate in clotting and bleeding.

Diseases Treated by Haematology
Haematology treats an array of diseases including, but not limited to, the following:

  1. Anaemia due to deficiency of iron, trauma related problems, sickle cell etc.
  2. Myelofibrosis
  3. Excessive production of RBC
  4. Multiple myeloma
  5. Bone marrow and stem cell transportation
  6. Platelet-related disorder such as Von Willebrand disease, idiopathic thrombocytopenic purpura, haemophilia etc.
  7. Haemoglobinopathies condition such as the sickle cell disease and thalassemia
  8. Leukaemia
  9. Malignant lymphomas
  10. Blood transfusion
  11. Myelodysplastic syndromes

Common tests involved in haematology

  1. Blood count- This test is done to get an idea about the total number of platelets, red blood cells, and white blood cells.
  2. Blood film- In this test, blood is stained with specific dyes and placed under a microscope to view the size, shape and the total number of blood cells. It also reveals any abnormalities that may be present in the blood. Staining can flag red blood cells that are deformed in nature. It can further flag conditions such as microfiliariasis, malaria and toxoplasmosis.
  3. Blood test – It is done to assess granulocytosis and storage diseases. Bone marrow examination can also be done through blood tests. .
  4. Blood work - Assessment of immature platelets, evaluation of erythrocyte sedimentation rate (ESR) and spleen biopsycan be carried out with blood work.
  5. Tests such as serum ferritin, folate levels, and vitamin B12 can reveal the iron status of a person.
  6. Certain tests such as the antiglobulin or Coombs' can be done before blood matching or blood typing is done.
  7. ProthrombinThis test is used to find out platelet function.
  8. A test known as the diascopy is performed to find out whether a lesion is haemorrhagic, vascular or non-vascular
  9. Immunocytochemical technique, a type of blood technique, is used to conduct antigen detection.
  10. Haematology testsare used for assessinghaemophagocytic syndrome.
  11. Karyotyping is done to detect any disorder of the chromosome.
  12. Fine needle aspiration cytology(FNAC) is a diagnostic method used to detect tumour.

In case you have a concern or query you can always consult an expert & get answers to your questions!

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