thalassemia (1)

A REPORT ON THALASSEMIA


HEMATOLOGY

Department of Bio-Science

2016

Abstract:

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Thalassemia is a name for a group of inherited blood disorders. When a person has

thalassemia, their body makes fewer red blood cells and less hemoglobin than normal.

Hemoglobin is an iron-rich protein in red blood cells. It allows the red blood cells to

carry oxygen from lungs to the rest of the body. Having not enough red blood cell

hemoglobin is anemia. Anemia interferes with your body’s ability to move oxygen from

your lungs to all of your organs and limbs. Symptoms of thalassemia may include one or

more of the following: paleness, tiredness, low energy, or muscle weakness (also called

fatigue), light headedness or shortness of breath, lack of appetite, dark urine, jaundice

(yellowing of the skin and the whites of the eyes), in children, slow growth and delayed

puberty, Bone deformities in the face, abdominal swelling. A person may get thalassemia

when their inherit gene mutations from one or both parents. These gene mutations cause

them to lose red blood cells at a higher than normal rate and cause you to produce less

hemoglobin. There are two main types of thalassemia: alpha thalassemia and beta

thalassemia.

Thalassemia can lead to other health problems: An enlarged spleen, infections, bone

problems and too much iron in your blood.Thalassemia can only be diagnosed with blood

tests. Some tests measure the number and size of red blood cells, or the amount of iron in

the blood. Others look at the hemoglobin within the red blood cells.

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Table of Contents

Introduction........................................................................................................................4

Symptoms:..........................................................................................................................5

Alpha-thalassemia..............................................................................................................6

Beta-thalassemia................................................................................................................8

Thalassemia major:...........................................................................................................9

Thalassemia minor...........................................................................................................10

Thalassemia Intermedia..................................................................................................11

Thalassemia occurs more often in male or in female?.................................................13

Consequences...................................................................................................................14

The Cure...........................................................................................................................14

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Introduction.

Thalassemia happens to be one of the most common genetic blood disorders throughout

the world. It is characterized by reduction in the amount of hemoglobin in each red cell in

spleen. If both of the parents are carriers of thalassemia, a person has a greater chance of

inheriting a more serious form of the disease.The two main forms of thalassemia are

alpha-thalassemia and beta-thalassemia.In alpha-thalassemia, at least one of the alpha

globin genes has a mutation or abnormality. In beta-thalassemia, the beta globin genes

are affected.

Each of these two forms of thalassemia has several distinct types. The exact form a

person has will affect the severity of your symptoms and prognosis.

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Symptoms:

Thalassemia is caused by different gene mutations that are inherited. The lack of or

chain in the gene is unable to produce healthy red blood cells causing anemia.

Depending on how many chains are missing will determine the severity of the anemia

which then will also cause other complication. In the situation of a Thalassemiaminor a

lot of the time that person may not know they have it unless full blood work is done.

Symptoms will depend on the type of thalassemia a person has. Some of the common

symptoms include fatigue, weakness, pale appearance, yellow discoloration of skin

(jaundice), facial bone deformities, slow growth, abdominal swelling, and dark urine.

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Alpha-thalassemia

Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.

In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells, which can cause pale skin, weakness, fatigue, and more serious complications.

Two types of alpha thalassemia can cause health problems. The more severe type is known as hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome. The milder form is called HbH disease.

Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. As a result of these serious health problems, most babies with this condition are stillborn or die soon after birth. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling, premature delivery, and abnormal bleeding.

HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). Some affected individuals also have bone changes such as overgrowth of the upper jaw and an unusually prominent forehead. The features of HbH disease usually appear in early childhood, and affected individuals typically live into adulthood

Alpha-thalassemia also has two serious types, which are hemoglobin H disease and

hydropsfetalis. Alpha thalassemia is the result of reduction in the synthesis of the alpha

globin chains. Two main types of alpha thalassemia are described as alpha thalassemia

major and hemoglobin H disease. Alpha thalassemia major is a very serious disease of

severe anemia characterized by hypochromic microcytic anemia that begins even before

birth. Most affected babies do not survive full gestation or die shortly after birth.

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https://ghr.nlm.nih.gov/art/large/hemoglobin.jpeg


Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all

overgrow. Additionally, hemoglobin H disease can cause: jaundice, which is a yellowing

of the skin or the whites of the eyes, an extremely enlarged spleen and malnourishment.

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.

Beta-thalassemia

The most familiar type of thalassemia is beta thalassemia. It involves decreased

production of normal adult hemoglobin (Hb A), the predominant type of hemoglobin

from soon after birth until death. (All hemoglobin consists of two parts: heme and

globin). The globin part of Hb A has 4 protein sections called polypeptide chains. Two of

these chains are identical and are designated the alpha chains. The other two chains are

also identical to one another but differ from the alpha chains and are termed the beta

chains. In persons with beta thalassemia, there is reduced or absent production of beta

globin chains. 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 and enlarged

organs.

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

Thalassemia intermedia are less severe form of beta-thalassemia. People with thalassemia

intermedia don’t need blood transfusions.

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Thalassemia major:

It is also known as Cooley’s anaemia.. In Thalassemia Major this is mainly when both

parents are thalassemia minor and have passed on the gene; the child missing a

sustainable amount of chains to create an able-bodied red blood cell causing severe

anemia. If the child has the symptoms will normally show after the second half of the

first year of life. Once it is found, treatment is started with blood transfusionsit most

likely will be detected at birth, where if the child is born with thalassemia Thalassemia

Blood transfusions will allow the child to live a longer life when kept compliant to

treatment. Not only will they live but they also have a better chance of growing properly.

The process of the blood transfusion prevents their body from trying to over work and

continuing to produce inefficient red blood cells. The body at this point is now receiving

full nutrients and is reducing the exhausted bone marrow from over working and keeping

the spleen of constant filtering.

How long can a person with thalassemic major live?

It is very hard to know the answer for thalassemics who are well at present. The disease

and its implications are changing almost from day to day, because of advances in

treatment. We have all seen that patients with thalassemia are living longer and longer.

Today it is reasonable to think that people with thalassemia major, who have been well

treated from the beginning, may well live as long as people without thalassemia. Only

time will tell whether this prediction is right, or too optimistic. On the other hand, if we

want to be pessimistic, it is true that thalassemics live with more risks than others,

because of the amount of medical treatment they need. all medical treatments include

some risk. But even so, well-treated thalassemic patient at the present day can have an

excellent life-expectancy.

Thalassemia major can be treated by (1) Blood Transfusion, sometimes (2) Removing

the Spleen, and (3) Desferal Treatment.

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Thalassemia minor

In Thalassemia minor, the hemoglobin genes are inherited during conception, one from

the mother (egg) and one from the father (sperm). People with a Thalassemia trait in one

gene are known as carriers or are said to have thalassemia minor. The only way to know

if you carry the Thalassemia trait is to have a special blood test called hemoglobin

electrophoresis which can identify the gene. The carriers of thalassemia minor become

anemic or slightly anemic. A large numbers of thalassemic syndromes are currently

known; each involves decreased production of one globin chain or more, which form the

different Hbs normally found in RBCs. Then most important types in clinical practice are

those that affect either or chain synthesis. Thalassemia minor usually doesn’t cause

any symptoms. If it does, it causes minor anemia.

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Thalassemia Intermedia A wide range of problems can arise in thalassemia intermedia, but they can all be dealt

with. When these problems are severe, they may make it necessary to start on regular

transfusion, even relatively late in life.

Mose of the problems that can occur in thalassemia intermedia, happen because the

thalassemia is not being controlled by regular blood transfusions. It can affect almost

every part of the body. People with thalassemia major would have the same problems in a

worse form, if they were not transfused. In fact, some older people with thalassemia

major who were kept on low transfusion scheme in the past, when we did not know

better, will remember having had some of these problems themselves.

The Spleen

Sometimes the spleen gets gradually bigger and the anemia gets gradually worse as

the years pass. Finally some patients with thalassemia intermedia start to need

transfusions. When that happens, removing the spleen often brings the situation back

to what it was earlier in life. The anemia gets better, so some people can stop

transfusions again after splenectomy.

Sometimes a mild thalassemia intermedia causes very little trouble in the first few

years of life, so that no-one notices that there in anything wrong with the child. But

then the spleen may get bigger and make the thalassemia worse, and the diagnosis is

made rather late. By this time the thalassemia intermedia may look like thalassemia

major, because the spleen is making it worse, and the child may be started on regular

transfusions. This is why we alays wonder whether it is thalassemia major or

thalassemia intermdeia, when a child with a big spleen starts to need transfusions for

the first time, after 4 years of age. Ocassionaly, someone who really have thalassemia

intermedia with a big spleen, who has been on regular transfusions for years, has their

spleen taken out. After the operation, they may find they can manage without

transfusions. This does not happen often. You may have heared stories of people who

were "cured" by having their spleen taken out. This is the explanation of such cases.

Splenectomy on its own does not improve thalassemia. It is helpful only if the spleen

is making the thalassemia worse that it would be otherwise.

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The Bones

Some people with thalassemia intermedia can have severe bone problems. This is

because their bone marrow tries to work too hard to overcome the anemia, so that it

expands inside the bones, and can weaken or even deform them. Some bones can be

too fragile, and get fairly easy broken in the course of normal life. The growth of some

bones can be disturbed, so that for instance, your upper arm may be shorter that other

people's. Sometimes one leg bone may be short than the other, so that you develop a

limp. This can usually be corrected by surgery after you have finished growing.

Sometimes changes in the bones of the face can be severe, and some adults with

thalassemia intermedia can get unpleasant, nagging pains in their bones and joints. If

you have real problems of this type with your bones, you have a more severe form of

thalassemia intermedia, verging on thalassemia Major. Most bone problems can be

controlled or cured by starting on regular transfusions.

The Bone Marrow, and Folic Acid

In thalassemia intermedia the bone marrow has to work very hard to make enough red

blood cells to go round. One of the things it needs to make red cells is a vitamin

called Folic Acid. This vitamin is present in meat and in green vegetables. Usually

people get as much folic acid as they need from their diet, but this is not always true

for people with thalassemia intermedia, since they need considerably more than usual.

This is why your doctor advises you to take a folic acid tablet every day.

The Kidneys

Thalassemia can sometimes affect your kidneys, because as your bone marrow is so

overactive, they make an unusual amount of wastes to be excreted in your urine. (The

most important of these is uric acid.) As a rule this does not do your kidneys any harm,

but they are often a bit larget than normal. There may be an increased level of uric

acid in your blood, and there certainly is in your urine. If the level is very high, the

excess of uric acid can damage the kidneys. so it may be necessary to take a drug

(Allopurinol) that prevents your body making so much uric acid.

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Thalassemia occurs more often in male or in female?Males and females have similar rates of disease. Thalassemia can happen to either sexes

it doesn’t matter if a person is a male or a female. The only difference is a menstruating

woman releases a lot of the excess iron from frequent transfusions. The spleen will

enlarge causing the child to look as if pregnant if not treated from the first signs of

illness. If treatment is started from the beginning the child can maintain a healthy spleen

to a close to normal size. There are still precautions for the spleen if it has not been

removed. The bone marrow in the process to keep up with the filtration of the spleen will

work many times harder than the average person which will cause the bone to enlarge

and will begin to cause growth deformities. In many situations the skin color will be very

pale or jaundice.

Do thalassemics necessarily have thalassemic children?No. Usually their children will be healthy, but it does depend on who they

marry.

If a thalassemic marries a "normal", all the children will be healthy carriers.

They must inherit a thalassemia gene from their thalassemia parent, and they

must inherit a normal one from the normal parent, so none of them can

possibly have thalassemia major.

If a thalassemic marries a thalassemic carrier, in each pregnancy there is a 50

% chance that the child will be thalassemic, and a 50 % chance that it will be

a healthy carrier. This is quite a commonsituations, since thalassemia carriers

sometimes have a special understanding for people with thalassemia major.

Then they have to choice whether to use parental diagnosis or not.

If one thalassemic marries another, all their children will be thalassemics.

This situation arises sometimes too, because thalassemics have so much

in common, they often feel particularly close to each other. When it does

happen, they usually decide not to have any children. But in the future, if it

becomes possible to correct thalassemia by genetic engineering, it could

become possible even for such couples to have their own, healthy children.

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Consequences If Thalassemic patients remain untreated, the anemia gets worse, the child stops growing altogether, and the spleen goes on getting bigger making the tummy very big. The bone marrow (the tissue that forms the red blood cells) expands inside the bones, trying to make more and more red cells. But the red cells it makes do not contain enough hemoglobin, and simply die without ever getting of the bonemarrow. However, the marrow's effort to expand makes the bones weak and alters their shape to give a deformed look. As time passes, the spleen, whose normal job is to destroy old red blood cells in the circulation, begins to destroy young red blood cells too, and finally also the white blood cells and the platelets. So in the end, the spleen makes the child's illness worse.

The CureThe only possible cure depending on the situation of each individual would be a bone

marrow transplant. That doesn’t always apply as the solution to every situation; where the

medical professional may consider the quality of life with treatments over the risk factor

of the surgery. Gene therapy is still in the process of preparing for trial for Thalassemia

patients, but there still is a long road ahead before approval. Medical research has

improved tremendously in the past 30 years and people with all blood disorders have

better chances of living longer and healthier. Another form of the cure is education.

Children should grow up knowing all inherited disease in their families and be educated

of the risks. With the power of knowledge is the power of prevention and healthy lives.

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thalassemia (1)

Education