1. Thalassemia is an inherited blood disorder that causes anemia due to reduced hemoglobin and fewer red blood cells.
2. It occurs when genes that code for the alpha or beta globin chains of hemoglobin are missing or abnormal.
3. Symptoms range from none to severe anemia, depending on which genes are affected and how many. The most severe form is called Cooley's anemia.
• Thalassemia
• Hemoglobinopathies
• Incidence of thalassemia in Thailand
• Mode of inheritance
• How to name thalassemia ?
• Common types of thalassemia
• Alpha Thalassemia
• Symbolism Alpha Thalassemia
• Classification & Terminology Alpha Thalassemia
• Types of a-thalassemia
• Compound heterozygotes
• Comparison of α Thalassemias
• Beta thalassemias (β thalassemias)
• Types of β Thalassemia
• β Thalassemia Symptoms Include
• Diagnosis of Beta Thalassemia
• Prevention
• What Is The Treatment For Thalassemia
• Thalassemia
• Hemoglobinopathies
• Incidence of thalassemia in Thailand
• Mode of inheritance
• How to name thalassemia ?
• Common types of thalassemia
• Alpha Thalassemia
• Symbolism Alpha Thalassemia
• Classification & Terminology Alpha Thalassemia
• Types of a-thalassemia
• Compound heterozygotes
• Comparison of α Thalassemias
• Beta thalassemias (β thalassemias)
• Types of β Thalassemia
• β Thalassemia Symptoms Include
• Diagnosis of Beta Thalassemia
• Prevention
• What Is The Treatment For Thalassemia
Get here,
1. WHAT IS THALASSEMIA?
2. Molecular Basis of Thalassemia.
3. Types of Thalassemia.
4. - Thalassemia.
5.Types of - Thalassemia.
6. 휷- Thalassemia.
7. Types of 휷- Thalassemia.
8. Thalassemia Syndrome.
9.Treatment
This presentation contains an overall review of Thalassemia and its Etiology, Inheritance, Symptoms and treatment
Done by: Faten Al-Sadek , Pharmacy student at Mohammed Al-Mana college for Health Sciences -MACHS
Thalassemia Dr.Ahmad Qassm :What is thalassemia ,INTRODUCTION of thalassemia,Types,Signs & Symptoms of thalassemia ,Diagnosis of thalassemia ,Treatment and Food Treatment of thalassemia ,Iron chelation therapy of thalassemia ,Bone Marrow & Stem Cell Transplant of thalassemia ,Possible Future Treatments of Thalassemia
Get here,
1. WHAT IS THALASSEMIA?
2. Molecular Basis of Thalassemia.
3. Types of Thalassemia.
4. - Thalassemia.
5.Types of - Thalassemia.
6. 휷- Thalassemia.
7. Types of 휷- Thalassemia.
8. Thalassemia Syndrome.
9.Treatment
This presentation contains an overall review of Thalassemia and its Etiology, Inheritance, Symptoms and treatment
Done by: Faten Al-Sadek , Pharmacy student at Mohammed Al-Mana college for Health Sciences -MACHS
Thalassemia Dr.Ahmad Qassm :What is thalassemia ,INTRODUCTION of thalassemia,Types,Signs & Symptoms of thalassemia ,Diagnosis of thalassemia ,Treatment and Food Treatment of thalassemia ,Iron chelation therapy of thalassemia ,Bone Marrow & Stem Cell Transplant of thalassemia ,Possible Future Treatments of Thalassemia
Thalassemia Major is defined as an inherited blood disorder in which the affected children are not able to maintain Hemoglobin (Hb) in the normal range
Thalassemia (British English: thalassaemia), also called Mediterranean anemia, is a form of inherited autosomal recessive blood disorder characterized by abnormal formation of hemoglobin
Current Situation of Thalassemia Control Strategies in Indonesia by Pustika Amalia Wahidiyat, Thalassaemia Centre, Department of Child Health Cipto Mangunkusumo Hospital, Jakarta, Indonesia
Intraoral X-rays are the most common type of #digitalradiography equipment taken. These X-rays provide a lot of detail and allow your dentist to find cavities, check the health of the tooth root and bone surrounding the tooth, check the status of developing teeth, and monitor the general health of your teeth and jawbone.
http://www.soredex.com/en/digital-radiography/
Omair Sana Foundation (OSF) is an initiative taken back in 2002 by a Pakistan-born American doctor, Kashif Hussain Ansari. The Foundation is named after two kids, Omair and Sana, he lost to Blood Diseases. Under his leadership, OSF is run and managed by a group of highly qualified professionals from different walks of life.
Brief Discussion on Thalassemia.
The content include Definition, classification, C/M, diagnosis and Management, it also include nursing responsibilities.
Thalassemia for medicine students or anyone interested in the disease.
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
A blood disorder involving lower-than-normal amounts of an oxygen-carrying protein.
Thalassemia is an inherited blood disorder characterized by less oxygen-carrying protein (hemoglobin) and fewer red blood cells in the body than normal.
Symptoms include fatigue, weakness, paleness, and slow growth.
Mild forms may not need treatment. Severe forms may require blood transfusions or a donor stem-cell transplant.
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View all Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal.
1• Define anemia and it's genetic bases.2• Describe thalassemia and it's genetic bases.3• What is the molecular defects and pathophysiology of thalassemia 4• Describe the diagnostic test that detect genetic mutation of thalassemia 5• Overview of pre-marital screening test.
anemia and thalassemia genetic bases ,the molecular defects and pathophysiol...
What is thalassemia
1. ?What Is Thalassemia
Thalassemia is an inherited blood disorder
that causes mild or severe anemia (uh-NEE-
me-uh). The anemia is due to reduced
hemoglobin (HEE-muh-glow-bin) and fewer
red blood cells than normal. Hemoglobin is
the protein in red blood cells that carries
oxygen to all parts of the body.
2. In people with thalassemia, the genes that
code for hemoglobin are missing or
variant (different than the normal genes).
Severe forms of thalassemia are usually
diagnosed in early childhood and are
lifelong conditions.
3. The two main types of thalassemia
alpha and beta, are named for the two protein
chains that make up normal hemoglobin. The
genes for each type of thalassemia are passed
from parents to their children. Alpha and beta
thalassemias have both mild and severe forms.
4. Alpha thalassemia
occurs when one or more of the four genes
needed for making the alpha globin chain of
hemoglobin are variant or missing. Moderate
to severe anemia results when more than two
genes are affected. The most severe form of
alpha thalassemia is known as alpha
thalassemia major. It can result in miscarriage.
5. Beta thalassemia
occurs when one or both of the two genes
needed for making the beta globin chain of
hemoglobin are variant. The severity of illness
depends on whether one or both genes are
affected and the nature of the abnormality. If
both genes are affected, anemia can range
from moderate to severe. The severe form of
beta thalassemia is also known as Cooley’s
anemia. Cooley’s anemia is the most common
severe form of thalassemia in the United
States.
6. Alpha Thalassemias
Alpha thalassemia “silent carrier”
Mild alpha thalassemia, also called alpha
thalassemia minor or alpha thalassemia trait
Hemoglobin H disease
Hydrops fetalis, or alpha thalassemia major
7. Beta Thalassemias
Beta thalassemia minor, also called
thalassemia minor or thalassemia trait
Beta thalassemia intermedia, also called
thalassemia intermedia or mild Cooley’s
anemia
Beta thalassemia major, also called
thalassemia major or Cooley’s anemia
Mediterranean anemia
8. Cooley ’s anemia
Cooley’s anemia is another name for the
severe form of beta thalassemia. The name is
sometimes used to refer to any type of
thalassemia that requires treatment with
regular blood transfusions.
9. Thalassemia is caused by variant or missing
genes that affect how the body makes
hemoglobin. Hemoglobin is the protein in
red blood cells that carries oxygen. People
with thalassemia make less hemoglobin and
fewer circulating red blood cells than
normal. The result is mild or severe anemia
10. Many possible combinations of variant genes
cause the various types of thalassemia.
Thalassemia is always inherited (passed from
parents to children). People with moderate to
severe forms of thalassemia received variant
genes from both parents. A person who inherits a
thalassemia gene or genes from one parent and
normal genes from the other parent is a carrier
(thalassemia trait). Carriers often have no signs of
illness other than mild anemia, but they can pass
the variant genes on to their children.
11. Hemoglobin includes two kinds of protein
chains called alpha globin chains and beta
globin chains. If the problem is with the alpha
globin part of hemoglobin, the disorder is alpha
thalassemia. If the problem is with the beta
globin part, it is called beta thalassemia. There
are both mild and severe forms of alpha and
beta thalassemia. Severe beta thalassemia is
often called Cooley’s anemia.
12. Alpha Thalassemia
Four genes are involved in making the alpha
globin part of hemoglobin—two from each
parent. Alpha thalassemia occurs when one or
more of these genes is variant or missing.
13. People with only one gene affected are called
silent carriers and have no sign of illness.
People with two genes affected (called alpha
thalassemia trait, or alpha thalassemia minor) have
mild anemia and are considered carriers.
People with three genes affected have moderate to
severe anemia, or hemoglobin H disease.
Babies with all four genes affected (a condition
called alpha thalassemia major, or hydrops fetalis)
usually die before or shortly after birth.
14. If two people with alpha thalassemia trait
(carriers) have a child, the baby could have
a mild or severe form of alpha thalassemia
or could be healthy.
15. Beta Thalassemia
Two genes are involved in making the beta
globin part of hemoglobin—one from each
parent. Beta thalassemia occurs when one or
both of the two genes are variant.
16. If one gene is affected, a person is a carrier and
has mild anemia. This condition is called beta
thalassemia trait, or beta thalassemia minor.
If both genes are variant, a person may have
moderate anemia (beta thalassemia intermedia, or
mild Cooley’s anemia) or severe anemia (beta
thalassemia major, or Cooley’s anemia).
Cooley’s anemia, or beta thalassemia major, is a
rare condition. A survey in 1993 found 518
Cooley’s anemia patients in the United States.
Most of these persons had the severe form of the
illness, but there may be more who are not
diagnosed.
17. If two people with beta thalassemia trait (carriers) have a
:baby, one of three things can happen
The baby could receive two normal genes (one from
each parent) and have normal blood (1 in 4 chance, or
25 percent).
The baby could receive one normal gene from one
parent and one variant gene from the other parent and
have thalassemia trait (2 in 4 chance, or 50 percent).
The baby could receive two thalassemia genes (one
from each parent) and have a moderate to severe form
of the disease (1 in 4 chance, or 25 percent).
18. ?Who Is At Risk for Thalassemia
1. Thalassemia is passed from parents to children
through their genes.
2. Thalassemia affects both males and females.
3. Beta thalassemias affect people of Mediterranean
origin or ancestry (Greek, Italian, Middle Eastern)
and people of Asian and African descent.
4. Alpha thalassemias mostly affect people of
Southeast Asian, Indian, Chinese, or Filipino origin
or ancestry.
19. What Are the Signs and Symptoms of
?Thalassemia
The symptoms of thalassemia depend on the
type and severity of the disease. Symptoms
occur when not enough oxygen gets to various
parts of the body due to low hemoglobin and a
shortage of red blood cells in the blood
(anemia).
20. “Silent carriers” and persons with alpha
thalassemia trait or beta thalassemia trait
(also called carriers) usually have no
symptoms. Those with alpha or beta
thalassemia trait often have mild anemia
that may be found by a blood test.
21. In more severe types of thalassemia, such as Cooley’s anemia,
signs of the severe anemia are seen in early childhood and
:may include
1. Fatigue (feeling tired) and weakness
2. Pale skin or jaundice (yellowing of the skin)
3. Protruding abdomen, with enlarged spleen
and liver
4. Dark urine
5. Abnormal facial bones and poor growth
22. Babies with all four genes affected (a condition
called alpha thalassemia major, or hydrops fetalis)
usually die before or shortly after birth
23. ?How Is Thalassemia Diagnosed
1. Thalassemia is diagnosed using blood tests, including a
complete blood count (CBC) and special hemoglobin
studies.
2. A CBC provides information about the amount of
hemoglobin and the different kinds of blood cells, such as
red blood cells, in a sample of blood. People with
thalassemia have fewer red blood cells than normal and
less hemoglobin than normal in their blood. Carriers of
the trait may have slightly small red blood cells as their
only sign.
3. Hemoglobin studies measure the types of hemoglobin in a
blood sample.
24. Cooley’s anemia
is usually diagnosed in early childhood because of
signs and symptoms, including severe anemia.
Some people with milder forms of thalassemia may
be diagnosed after a routine blood test shows that
they have anemia. Doctors suspect thalassemia if a
child has anemia and is a member of an ethnic
group that is at risk for thalassemia.
25. To distinguish anemia caused by iron deficiency
from anemia caused by thalassemia, tests of the
amount of iron in the blood may be done. Iron-
deficiency anemia occurs because the body doesn’t
have enough iron for making hemoglobin. The
anemia in thalassemia occurs not because of a lack
of iron, but because of a problem with either the
alpha globin chain or the beta globin chain of
hemoglobin. Iron supplements do nothing to
improve the anemia of thalassemia, because
missing iron is not the problem.
26. Family genetic studies are also helpful in
diagnosing thalassemia. This involves
taking a family history and doing blood
tests on family members.
Prenatal testing can determine if an unborn
baby has thalassemia and how severe it is
likely to be.
27. ?How Is Thalassemia Treated
Treatment for thalassemia depends on the type and severity
of the disease.
People who are carriers (they have thalassemia trait)
usually have no symptoms and need no treatment.
Those with moderate forms of thalassemia (for example,
thalassemia intermedia) may need blood transfusions
occasionally, such as when they are experiencing stress
due to an infection. If a person with thalassemia
intermedia worsens and needs regular transfusions, he or
she is no longer considered to have thalassemia
intermedia; instead, the person is said to have thalassemia
major, or Cooley’s anemia.
28. Those with severe thalassemia have a
serious and life-threatening illness. They
are treated with regular blood transfusions,
iron chelation (ke-LAY-shun) therapy, and
bone marrow transplants. Without
treatment, children with severe thalassemia
do not live beyond early childhood. People
with severe thalassemia who are able to
continue therapy successfully may live
into their thirties, forties, and beyond.
29. 1. Blood Transfusions
Severe forms of thalassemia are treated by
regular blood transfusions. A blood
transfusion, given through a needle in a vein,
provides blood containing normal red blood
cells from healthy donors. In thalassemia
treatment, blood transfusions are done on a
schedule (often every 2–4 weeks) to keep
hemoglobin levels and red blood cell numbers
at normal levels. Transfusion therapy can
allow a person with severe thalassemia to feel
better, enjoy normal activities, and live longer.
30. Transfusion therapy, while lifesaving, is
expensive and carries a risk of transmitting viral
and bacterial diseases (for example, hepatitis).
Transfusion also leads to excess iron in the
blood (iron overload), which can damage the
liver, heart, and other parts of the body. To
prevent damage, iron chelation therapy is
needed to remove excess iron from the body.
31. 2-Iron Chelation Therapy
Iron chelation therapy uses medicine to
remove the excess iron that builds up in the
body when a person has frequent blood
transfusions. If the iron is not removed, it
damages body organs, such as the heart and
liver.
32. The medicine, deferoxamine (deh-fer-ROX-uh-
meen), works best when given slowly under the
skin, usually with a small portable pump
overnight. This therapy is demanding and
sometimes is mildly painful, so some people
stop chelation therapy. A pill form of iron
chelation therapy, deferasirox, was approved in
November 2005 for use in the United States.
People who have iron overload should not take
vitamins or other supplements that contain iron.
33. Surgery-3
Surgery may be needed if body organs, such as
the spleen or gall bladder, are affected. For
example, if the spleen becomes inflamed and
enlarged, it may be removed. If gallstones
develop, the gall bladder may be removed.
34. A-Bone Marrow or Stem Cell
Transplants
Bone marrow or stem cell transplants have
been used successfully in some children with
severe thalassemia. This is a risky procedure,
but it offers a cure for those children who
qualify.
35. Other Treatments-4
People with severe thalassemia are more likely
to get infections that can worsen their anemia.
They should get an annual flu shot and the
pneumonia vaccine to help prevent infections.
Folic acid is a B vitamin that helps build red
blood cells. People with thalassemia should
take folic acid supplements.
Researchers are also studying other treatments,
such as gene therapy and fetal hemoglobin.
36. Gene therapy-5
Someday, it may be possible to cure
thalassemia in an unborn child by inserting a
normal gene into the child’s stem cells.
37. Fetal hemoglobin-6
Researchers are studying ways to enhance
production of fetal hemoglobin in people with
thalassemia. Fetal hemoglobin is the type of
hemoglobin made by the body before birth. After
birth, the body usually switches from making fetal
hemoglobin to the adult form of hemoglobin. Some
children have a gene variant that prevents the
switch, and their continuing production of fetal
hemoglobin lessens the severity of their illness.
Researchers are testing ways to enhance fetal
hemoglobin production after birth.
38. How Can Thalassemia Be Prevented?
Although thalassemia cannot be prevented,
it can be identified before birth by prenatal
diagnosis.
People who have or believe that they may
carry the thalassemia genes can receive
genetic counseling to avoid passing the
disorder to their children.
39. Living With Thalassemia
1. The Cooley’s Anemia Foundation offers
support to people with various types of
thalassemia through its Thalassemia Action
Group.
2. If you have moderate or severe thalassemia,
you need to take care of your overall health.
40. Follow your treatment plan. See your doctor regularly
for checkups and treatment.
If you must have regular blood transfusions and iron
chelation therapy, it is important to continue with
treatment as recommended.
If you have regular blood transfusions, you should
avoid taking vitamins or other supplements containing
iron.
Maintain a healthy diet. Your doctor may also give you
a supplement of folic acid (a B vitamin) every day to
help your body make new red blood cells.
Get a flu shot every year and the pneumococcal vaccine
to prevent infect
41. Key Points
Thalassemia is an inherited blood disorder that
can cause mild to severe anemia.
Thalassemia involves problems with the
production of hemoglobin in red blood cells.
As a result, a person with thalassemia doesn’t
have enough hemoglobin or red blood cells to
carry oxygen throughout the body (anemia).
42. Two main types of thalassemia are alpha and
beta thalassemia. Alpha thalassemia occurs
when there is a problem with the alpha globin
chain that is part of hemoglobin. Beta
thalassemia occurs when there is a problem with
the beta globin chain.
Mild, moderate, and severe forms of
thalassemia occur. Severe beta thalassemia is
often called Cooley’s anemia.
43. The most common severe form of thalassemia
seen in the United States is beta thalassemia
major, or Cooley’s anemia. It mainly affects
people from Mediterranean countries and Asia.
Some people are “silent carriers” with no
symptoms. Other carriers have mild anemia but
usually need no treatment. Carriers can pass
thalassemia genes on to their children.
44. Severe thalassemia is treated with frequent
blood transfusions and iron chelation
therapy to remove excess iron that builds up
in the body from the transfusions.
Bone marrow or stem cell transplants have
cured thalassemia in some children, but this
treatment is not available for most people
with thalassemia.
Researchers are studying new treatments,
including ways to cure thalassemia through
stem cell and gene therapies.