Thalassemia Beta globin gene sequencing Tips

Thalassemia is a grave blood disorder. That is why people who have been diagnosed with it need to be extra careful with how they live their lives. The focus is on always making healthy lifestyle choices. This improves the quality of their lives, helps manage the disorder and will have a less detrimental impact on their lifespan.

Keep the illness under control - With proper care and intervention, thalassemia can be managed efficiently. To continue being healthy, thalassemia patients must opt for regular blood transfusions and chelation therapy. Since thalassemia depletes the haemoglobin content of blood and the body becomes starved of oxygen, fresh blood through transfusion provides the body with the haemoglobin it needs. Simultaneously, patients need folate therapy (iron supplements). Chelation therapy too is a must to remove the extra iron that builds up due to blood transfusion and folate intake. Otherwise, the excess iron may damage the liver and cause a heart attack. Do not miss any appointment with you haematologist or any therapy session.

Vaccination for immunization - People with thalassemia are prone to infections and precautions are necessary to prevent them. Otherwise, complications might arise. A few vaccines that every thalassemia patient needs-

Haemophilus influenza type b (Hib)
Meningococcal vaccines
Pneumococcal vaccine
Vaccines for Hepatitis A and Hepatitis B
Keep tabs on vaccination schedules and ask your doctor if booster shots are needed.

Exercising - Thalassemia can be weakening and many people with this blood disorder find high-intensity workout difficult. But moderate exercise is highly recommended for them. Exercise improves blood circulation and even improves immunity. Here are a few exercises that thalassemia patients should try-

Bicycling
Jogging
Brisk walking
Swimming
Yoga
Diet - Diet is as important as exercising in keeping the thalassemia patient healthy. But they have to be very cautious about what they eat and it is best to consult a doctor and a dietician to plan a meal routine. Since blood transfusion and iron supplements result in a lot of iron entering the body, it is best to limit your intake of iron through foods. Avoid cereals and fruit juices that are fortified with iron, spinach, meat and all other foods that are rich in iron.

Support network - Having a group of loving people around you is crucial for psychological health. The stress generated by having to live with thalassemia, the frequent trip to the doctor s clinic, the blood transfusion sessions and uncertainty over the future can bring on anxiety and depression.

Having a strong support system can help in many ways-

They can accompany you to the clinic
Your family or friends can remind you to take your medicines on time
You can unburden yourself by talking to them about your fears
Thalassemia need not affect the quality of your life. With a few measures, you can live a normal happy life.

Thalassaemia is one of the most difficult hereditary diseases to live with. Even though there is no cure, parents can prevent their child from being born with this terrible disease if they are careful. Thalassemia is a blood illness. It is an inherited disorder. If even one parent is a carrier of thalassemia, the child will be born with this blood disorder. Our blood contains haemoglobin - a protein molecule. It carries oxygen to all parts of the body. But some people are born with an unnatural form of haemoglobin or certain important fragments of their gene are deleted. This destroys healthy red blood cells and thalassemia sets in.

However, preventing the spread of disease in the world has proven difficult due to the lack of proper awareness about the condition. This is why the World Health Organization established May 8th as World Thalassaemia Day.

Importance of World Thalassaemia Day

World Thalassemia Day is celebrated on 8th May, every year. It is also a day when the medical organizations around the world come together to plan and raise awareness about the disease. Camps are set up in various cities and villages to educate people about the dangers of Thalassaemia and teach them about prevention measures of it.
It has a two-fold purpose. Firstly, on this day, we commemorate the people who lost their lives to thalassemia but are still cherished in our hearts. Secondly, this day is all about spreading awareness regarding this illness and extending support to people who have been diagnosed with thalassemia. The more people know about thalassemia, the more equipped they would be to deal with the illness. And eventually, the world will be able to eradicate this disease. With that in mind, let us understand thalassemia better.

Aside from spreading awareness, there are other important reasons for celebrating World Thalassaemia Day. These include -

To motivate healthy people in the world to donate blood regularly in order to reduce the suffering of patients of Thalassaemia
Motivating doctors to take care of the special needs of such patients
Motivating people suffering from the disease to undergo treatment, as soon as they can, to reduce complications
To motivate the government of various countries around the world to build better health care facilities for people suffering from Thalassaemia
To reduce Thalassaemia related deaths around the globe
What are the symptoms of thalassemia?
Thalassemia has some distinctive symptoms. They may vary from one individual to the next but every patient experiences a combination of these symptoms-

Deformities of bones, noticeable especially in the face
Pale skin
A slow rate of growth of the child
Constant fatigue
Darkish urine
Infections
Appetite loss
The symptoms usually manifest in late childhood or early adolescence.

Treatment of thalassemia - The most widely-prescribed mode of treatment is blood transfusion and intake of iron supplements so that your body has enough haemoglobin. At the same time, you will undergo chelation to drain the extra iron from your body. A bone marrow transplant can treat thalassemia in children.

Some of the utilized treatments include:

blood transfusions
a bone marrow transplant (BMT)
medications and supplements
possible surgery to remove the spleen or gallbladder
This World Thalassemia Day let us promise to get tested before we have children and do everything in our capacity to help those who have to live with the illness.

Thalassemia is a blood illness that destroys haemoglobin in the blood. Unless managed properly, thalassemia can be fatal. Keeping the disease under control involves not just blood transfusion, folate intake and chelation therapy but also diet. What the patients eat has an impact on how well their bodies will respond to treatment.

Diet for thalassemia patients
Thalassemia can trigger nutritional deficiency illnesses, haemolytic anaemia, diabetes and iron build-up (because of regular blood transfusion and intake of iron supplements). So thalassemia patients have to be very particular about the foods they eat to prevent any of these complications setting in. Their diet should be a mix of the following-

Protein
Calcium
Vitamin d
Trace minerals such as zinc, copper and selenium
Antioxidants such as Vitamin E and Vitamin C
Patients who do not require blood transfusion are recommended 1 mg of folate consumption every day and a low-iron diet. People who require blood transfusion and chelation therapy (which removes the excess iron from the blood) are advised to lay off iron-rich foods. Here are some nutrients that all thalassemia patients need-

Protein - Growth and development slow down in children with thalassemia, which is why they need protein. But some sources of protein are high in iron too which must be avoided. Good protein sources- cheese, yoghurt, soy products, beans, eggs and nuts. Sources of protein to avoid- red meat like goat, lamb and liver.
Vitamin D and calcium - Thalassemia causes bone problems like unnatural bone structure especially of the skull, widening of bones, loss of bone density and joint pain. To keep these problems in check, high calcium and vitamin D diet is recommended. Sources of calcium- milk and dairy products like cheese and curd, soy products, calcium-enriched cereals. Sources of Vitamin D- egg yolks, cheese, fatty fishes and Vitamin D supplements. Early morning sunlight is the best source of this Vitamin.
Trace minerals - Copper, zinc and selenium are essential for protein and DNA synthesis. They are vital for the healthy growth of cells. They also regulate the function of different hormones. Thalassemia can trigger a deficiency of these trace minerals. Sources of zinc- whole grains and all milk products. Sources of copper- nuts, seeds, mushrooms, dark chocolate, legumes and eggs. Sources of selenium- chicken, turkey, dairy products and whole grains.
Antioxidants - People who require frequent blood transfusion experience oxidative stress, which can damage cells and cause severe health complications such as diabetes and cancer. To remove free radicals from the body, antioxidants that can counter oxidative stress are necessary. Antioxidants also boost the body s immune system and help reduce the likelihood of infections (thalassemia patients are at risk of many infections). Vitamin E and Vitamin C are powerful antioxidants. Sources of Vitamin C- oranges, guava, cauliflower, papaya and strawberries. Sources of Vitamin E- nuts, seeds, sunflower oil, broccoli.
Foods to avoid

Certain foods that are rich in iron must be avoided to prevent liver and heart problems-

Watermelon
Dates and raisins
Leafy green vegetables
Red meat
With a careful diet, thalassemia patients can live a normal life and increase their life expectancy. Avoid iron-rich foods and follow your dietician's instructions and you can be quite healthy.

Thalassaemia is one of the most difficult hereditary diseases to live with. Even though there is no cure, parents can prevent their child from being born with this terrible disease if they are careful.

However, preventing the spread of disease in the world has proven difficult due to the lack of proper awareness about the condition. This is why the World Health Organization established May 8th as World Thalassaemia Day.

Importance of World Thalassaemia Day

8th May is dedicated to past and present Thalassaemia patients in the world, who are surviving with the condition. It is also a day when the medical organizations around the world come together to plan and raise awareness about the disease. Camps are set up in various cities and villages to educate people about the dangers of Thalassaemia and teach them about prevention measures of it. On World Thalassaemia Day, hospitals and clinics promote pre-marriage genetic testing that can help prevent hereditary conditions in the family. In India alone, 7,000-10,000 children are born with this disorder every year.

Aside from spreading awareness, there are other important reasons for celebrating World Thalassaemia Day. These include -

1. To motivate healthy people in the world to donate blood regularly in order to reduce the suffering of patients of Thalassaemia

2. Motivating doctors to take care of the special needs of such patients

3. Motivating people suffering from the disease to undergo treatment, as soon as they can, to reduce complications

4. To motivate the government of various countries around the world to build better health care facilities for people suffering from Thalassaemia

5. To reduce Thalassaemia related deaths around the globe

Types of Thalassaemia

Thalassaemia is a hereditary condition, passed on from parents to their children. The condition results in improper and insufficient red blood cell and haemoglobin formation. This causes anaemia in the body.

There are two main types of Thalassemia -

1. Alpha-thalassemia- In this type, up to four genes are involved. Two genes are passed down to you from each parent. In case of a single mutated gene, you will not suffer from the condition, but you become a carrier. In the case of two mutated genes, the symptoms of the disease will be mild. In the case of three mutated genes, the symptoms will be severe. Most children with four mutated genes are stillborn, while a few may survive for a short period after birth.

2. Thalassaemia minor- Two genes determine whether an offspring will suffer from thalassaemia minor or not. If one of these two genes is mutated, the child will have mild symptoms of the disease. If both the genes are affected, the child will be healthy at birth but will develop severe thalassaemia within the first two years of life.

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-

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.
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.

Screening during pregnancy: Screening to check if a baby is at risk of being born with thalassemia is offered to all pregnant women.
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.
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:

A low level of red blood cells
Smaller than expected red blood cells
Pale red blood cells
Red blood cells that are varied in size and shape
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:

Measure the amount of iron in your child's blood
Evaluate his or her hemoglobin
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

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-

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.
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.

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.

Screening during pregnancy: Screening to check if a baby is at risk of being born with thalassemia is offered to all pregnant women.
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.
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:

A low level of red blood cells
Smaller than expected red blood cells
Pale red blood cells
Red blood cells that are varied in size and shape
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:

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

थैलासीमिया एक प्रकार का ब्लड डिसऑर्डर है, जो आपके शरीर में असामान्य हीमोग्लोबिन और रेड ब्लड सेल्स के उत्पादन के लिए जिम्मेदार होती है. थैलासीमिया विभिन्न प्रकार के होते हैं जैसे अल्फा-थैलासीमिया, बीटा-थैलासीमिया इंटरमीडिया, कोली एनीमिया और मैडिटरेनियन एनीमिया. हीमोग्लोबिन ऑक्सीजन ले जाने में रेड ब्लड सेल्स की सहायता करता है. रेड ब्लड सेल्स और हीमोग्लोबिन में कमी के कारण एनीमिया हो सकता है. इसके परिणामस्वरूप कमजोरी और थकावट महसूस करते हैं. इसके अलावा, आप पेट में सूजन, डार्क यूरिन या पीले रंग की त्वचा का भी अनुभव कर सकते हैं. यह एक अनुवांशिक स्थिति है जिसका उपचार बचपन में किया जाना चाहिए. यदि आप थैलासीमिया के पूरी तरह से ग्रसित नहीं है तो इसके उपचार की जरुरत नहीं होती है. लेकिन यदि आप थैलासीमिया से गंभीर रूप पीड़ित हैं, तो आपको नियमित रूप से ब्लड की जरुरत पड़ सकती है. इसके अलावा, थकान से निजात पाने के लिए आपको स्वस्थ आहार का सेवन करना और रोजाना एक्सरसाइज करने को अपनी रूटीन में शामिल करना चाहिए. इस लेख के माध्यम से हम थैलेसिमिया का इलाज कैसे किया जा सकता है इसके बारे में जानेंगे.

थैलेसिमिया के लक्षण-
थैलेसिमिया के लक्षण यदि किसी व्यक्ति में नजर आयें तो आपको तुरंत चिकित्सक से संपर्क करना चाहिए. इसके लक्षणों में थकान, कमजोरी, पीलापन और धीमा विकास प्रमुख हैं. आइए अब थैलेसिमिया के लक्षणों पर एक नजर डालें

एनेमिया यानि खून की कमी होना
विकास का अवरुद्ध होना
त्वचा का पीलापन
थैलेसिमिया में कमजोरी भी इसका एक आम लक्षण है
श्वसन संबंधी परेशानी
आँखों में पीलापन
आयरन की अधिकता

थैलेसिमिया का इलाज-
थैलेसिमिया के हल्के रूपों में उपचार की आवश्यकता नहीं भी हो सकती है. लेकिन इसके गंभीर रूपों में रक्त संक्रमण या दाता स्टेम-सेल प्रत्यारोपण की आवश्यकता हो सकती है. आइए थैलेसिमिया के इलाज के विभिन्न संभावनाओं पर एक नजर डालें.

विटामिन की उचित खुराक दें: - थैलेसिमिया के मरीजों को विटामिन की उचित खुराक देनी चाइए क्योंकि विटामिन हमारे शरीर की विभिन्न गतिविधियों, वृद्धि एवं विकास को प्रोत्साहित करते हैं.

रक्तसंचार को प्रोत्साहित करना: - जिन लोगों को थैलेसिमिया की समस्या है उनके रक्तसंचार को लगातार प्रोत्साहित करते रहने की आवश्यकता होती है. ताकि तमाम अवरोधों को कम या खत्म किया जा सके.

आयरन की अधिकता को खत्म करना: - जाहीर है थैलेसिमिया के दौरान हमारे शरीर में आयरन की मात्रा बढ़ जाती है. इसलिए इस दौरान आपको ऐसे उपाय करने चाहिए जिससे शरीर में आयरन की कमी आए.

शीघ्रता से चिकित्सकीय जाँच कराना: - बच्चों या टीनएजर्स में इसके लक्षण दिखाई देने पर उन्हें तत्काल चिकित्सकीय परामर्श दिलवाएँ ताकि समस्या नियंत्रण में आ सके.

प्राथमिक चिकित्सा केंद्र: - यदि आपके आस पास अस्पताल नहीं है तो नजदीकी प्राथमिक चिकित्सा केंद्र में जाकर भी इसे दिखा सकते हैं. इसके बाद किसी अस्पताल में ले जा सकते हैं.

रक्तदोषों की जाँच: - थैलेसिमिया के मरीजों में विभिन्न प्रकार के रक्तदोषों में वृद्धि की संभावना होती है. आपको चाहिए कि आप रक्त दोषों की उचित जाँच कराएं या चिकित्सक के परामर्श के अनुसार कदम उठाएँ.

Get Aware About Thalassemia!

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:

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.
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.
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.
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.

Thalassemia is a genetic (which is 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

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.
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.

Screening during pregnancy: Screening to check if a baby is at risk of being born with thalassemia is offered to all pregnant women.
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.
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:

A low level of red blood cells
Smaller than expected red blood cells
Pale red blood cells
Red blood cells that are varied in size and shape
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:

Measure the amount of iron in your child's blood
Evaluate his or her hemoglobin
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