Know it all about Thalassemia

 Thalassemia is an abnormality of hemoglobin. It is completely genetic which is transferred from parents to their offspring. In thalassemia the body produces abnormal hemoglobin and has less blood cells than it should. The risk factors of thalassemia are from mild to severe to life threatening depending on the type of thalassemia the person has. Thalassemia unawareness is also a factor that contributes to the increase of thalassemia patients. Thalassemia patients contribute about 1.5 % of world's population and Pakistan has an estimated number of 100,000 thalassemia patients and about 5000 children are born every year with this disease. In this blog I will tell you all there is to know about thalassemia.

Thalassemia has types and the severity and seriousness of the condition depends on the type of thalassemia one has. If someone has mild thalassemia he might not need treatment and can cope with it by having a healthy diet and exercising routine whereas, people with more severe conditions might need frequent blood transfusions and extra care.

Types of thalassemia:

There are two types of thalassemia known as alpha thalassemia and beta thalassemia.

Alpha thalassemia:

Four genes are involved in making alpha hemoglobin chains. If you have one mutated gene you will not have any visible symptoms but you can be the carrier and might transfer it to your offspring. If you have two mutated genes your sign and symptoms will be mild and you might not need any treatment but, in case of three alpha mutated genes, your thalassemia will range from mild to severe and you might need proper blood transfusions.

Beta thalassemia:

Two genes are involved in making the beta part of the hemoglobin chain. You inherit one from each parent. If you have one mutated gene you will have minor or beta-thalassemia. If you have two mutated genes you will have mild to severe thalassemia.

Symptoms of Thalassemia :

Symptoms of thalassemia occur depending on the type and severity of thalassemia. Here are the most common symptoms that indicate thalassemia:

• Tiredness 
• Pale skin
• Short of breath
• Increased heartbeat
• Fainting 
• Pale skin and jaundice
• Slow growth
• Dark urine
• Skeletal deformities

Cause of Thalassemia :

Thalassemia is completely inherited and people cannot develop it after birth. Thalassemia occurs because the protein hemoglobin that transfers oxygen to all parts of the body cannot reach them properly. Bone marrow in thalassemia patients does not produce enough hemoglobin or it produces  abnormal shaped hemoglobin which cannot pass through blood capillaries and is broken down by the body.

Thalassemia Diagnosis:

Complete blood count CBC:

Thalassemia can be diagnosed by several testing methods. If you have a family history of thalassemia then, your doctor will inquire about certain things and will conduct tests accordingly. One of the tests is complete blood count. In this the doctor measures the amount of total blood cells your body is producing and the size and shape of blood cells.

Genetic testing:  

Another way of diagnosing thalassemia is genetic testing. This can diagnose if you or your partner has thalassemia.

Chorionic villus sampling:

If you are a pregnant woman then, your placenta is tested in the 11th month of pregnancy to see if the baby will have thalassemia.

Amniocentesis :

doctors test the amniotic fluid to find out if the unborn baby has thalassemia. This test is conducted in the 16th week of pregnancy.

Thalassemia Treatment :

If you have mild thalassemia you might not treatment but in case of severe thalassemia these are the treatments:

Blood transfusions:

Blood transfusions are done to provide thalassemia patients’ bodies with all the oxygen they need. How often one needs transfusion depends on the condition of thalassemia they have.

Stem cells and bone marrow transplant:

sometimes stem cell transfusion from a matched donor can cure thalassemia.

Thalassemia complications:

Possible complications in moderate to severe thalassemic patient include:

• Iron overload: frequent blood transfusions can cause iron overload.
• Risk of infection: people with moderate to severe thalassemia are prone to infection.

If the person has severe thalassemia the possible complications can be:

• Slow growth

• Bone deformities: severe thalassemia patients might have facial bone deformities or thin brittle bones which can break easily.
• Heart problems: patients might experience abnormal heart rate and congestive heart failure.
• Enlarged spleen: spleen filters out old dead or damaged blood cells and helps the body in fighting infections. If the patient is getting frequent blood transfusions then, his spleen will function harder than usual which will increase the size of his spleen. Sometimes it grows to that extent that the doctor suggests removing it which makes the body prone to infections.
• Prevention:

One cannot prevent thalassemia as it is genetic but what people can do to stop adding to the number of thalassemia patients is getting tested. One might be completely normal but sometimes, they carry a recessive gene of thalassemia which can result in thalassemic children having thalassemia complications. Getting tested before getting married is a great option to avoid this forever untreatable pain.

Fatimid foundation is working really hard to provide thalassemia treatment in Pakistan. They are the hope of many thalassemic children and children with other blood disorders in Pakistan. If you have children and cannot afford the cost of treatment of thalassemia in Pakistan then, Fatimid foundation can become your hope. If you are someone who is just educating themselves on the topic or are reading because you have someone thalassemic in your circle then, donate and help all those who are suffering from this pain. Every penny of yours counts and can give hope to someone.