What is Thalassemia?

People may suffer from different kinds of health conditions. These conditions may sometimes be debilitating or may be easy to live with. Thalassemia is a health condition that may also affect people depending on different factors. One may wonder, what is Thalassemia? Thalassemia is a blood disorder that involves lower-than-normal amounts of protein essential for carrying oxygen in a person’s body. The impact of Thalassemia on a person may vary based on the severity of the disease. People suffering from mild forms of Thalassemia will be able to lead relatively regular lives, whereas those with severe forms of Thalassemia will require regular monitoring and treatment. It is an inherited blood disorder caused by reduced oxygen-carrying protein (hemoglobin) and fewer red blood cells than normal. Patients suffering from Thalassemia may face fatigue, weakness, paleness, and reduced growth rate. Let’s proceed further with understanding Thalassemia symptoms, causes, diagnosis, treatment, and more additional information.

Thalassemia symptoms

Thalassemia symptoms

Every medical condition may have unique symptoms that may be observed in or affect a patient. Some unique Thalassemia symptoms may be observed in people who are suffering from it. The kinds of Thalassemia symptoms one may experience will depend on the Thalassemia type and how severe it is. Suitable Thalassemia treatment may also be afforded to a person depending on the symptoms of Thalassemia that they face.

Some notable Thalassemia symptoms are:

Asymptomatic or no symptoms

A person will not experience Thalassemia symptoms if they lack one alpha gene. If the person is missing two alpha genes or one beta gene, they may be asymptomatic or experience mild anemia symptoms such as fatigue.

Mild to moderate Thalassemia symptoms:

Beta thalassemia intermedia could lead to mild anemia symptoms or cause the following symptoms associated if they have more moderate Thalassemia:

  • Issues related to growth 
  • Puberty may be delayed
  • Abnormalities related to bones like osteoporosis 
  • An enlarged spleen, which is the organ in your abdomen that fights infections that attack your body 

You may need surgery to fix skeletal issues. Your healthcare provider may even remove your spleen in case it grows too much in size.

Severe Thalassemia symptoms:

Missing three alpha genes (Hemoglobin H disease) may often lead to anemia symptoms at birth itself and could lead to lifelong anemia that is very serious. Beta thalassemia major or Cooley’s anemia may lead to anemia symptoms that are serious and noticeable by age 2. Symptoms of severe anemia include symptoms that are associated with mild to moderate disease as well. Some additional symptoms could consist of the following:

  • Appetite loss
  • Jaundice, which causes pale or yellowish skin 
  • Urine that is dark or tea-like color
  • Irregular face bone structure 

While these are generally the symptoms a person may experience if they have Thalassemia, Thalassemia symptoms may sometimes differ for different patients. These are, therefore, only an indication of Thalassemia symptoms that patients may generally experience. If one has any queries regarding Thalassemia symptoms, they may consult their doctor or a suitable medical professional. Based on their symptoms, a patient may be given appropriate Thalassemia treatment.

Thalassemia treatment 

Different medical conditions may have different kinds of treatments based on the health condition of the patient and the severity of the disease. The kind of Thalassemia treatment that is afforded to a patient may also depend on the age, weight, height, severity of health condition, and symptoms of Thalassemia, among other aspects relating to the patient. Usual kinds of Thalassemia treatment for Thalassemia major may involve blood transfusions and iron chelation.

The following kinds of Thalassemia treatment may be afforded to a patient depending on the type or severity of their condition and the symptoms of Thalassemia that they face:

  • A blood transfusion involves injecting red blood cells into a person’s vein. The injection will be given to restore the regular levels of healthy red blood cells and hemoglobin that the person should have in their body. The person will be given transfusions every four months if they have moderate or severe Thalassemia. If they suffer from beta thalassemia major, their doctor or suitable medical authority may give them the necessary transfusions every two to four weeks. Occasional transfusions may also be required, for example, if the person has some infection for hemoglobin H disease or beta thalassemia intermedia.
  • Iron chelation will involve the removal of any extra iron from the body of the person. An issue faced with blood transfusions is that they may lead to iron overload in the patient’s body. Too much iron may lead to organ damage. To help with this, a person may be given iron chelation therapy, which may be given to them in pill form that can be consumed orally.
  • Folic acid supplements may assist the body of the patient to be able to produce healthy blood cells
  • Bone marrow and stem cell transplant from donor that is comptaible and often related to the patient may be the only treatment to successfully cure Thalassemia. One may have to check their compatibility for this. In case a person is considered compatible to donate to the patient, the donor will have similar proteins, called human leukocyte antigens (HLA), on their cell’s surface as the transplant recipient. The doctor or suitable medical professional will inject bone marrow stem cells from donor to the bloodstream of the patient when the procedure is done. The cells which have been transplanted will then begin to produce new and healthy blood cells within one month.
  • Luspatercept is a kind of injection that may be given to a Thalassemia patient every three weeks. This injection will help the patient’s body produce more red blood cells. The Luspatercept injection has been approved in the U.S. for treating transfusion-dependent beta Thalassemia.

Thalassemia causes 

There are some notable Thalassemia causes. Diseases and health-related issues may be caused due to some reason. It is important to understand these reasons to better understand the health problem one is suffering from. The same goes for Thalassemia causes. 

Hemoglobin contains four protein chains: two chains of alpha globin and two chains of beta-globin. Both chains have some genetic information or genes passed to a person from their parents. One may think of these genes as a kind of “code” or programming that controls each chain and, as a result, the hemoglobin in the person’s body. A person will have Thalassemia if these genes are defective or missing.

  • Alpha globin protein chains contain four genes, two from every parent 
  • Beta globin protein chains have two genes, one from every parent

The kind of Thalassemia you may suffer from depends on the varying Thalassemia causes that are affecting your condition. This may depend on whether your alpha or beta chain contains the necessary genetic defect. The extent of the defect will dictate the severity of the person’s condition and what kind of Thalassemia they suffer from. To understand this better, you may consult your doctor or a suitable medical professional.

Thalassemia types 

There are different Thalassemia types based on the Thalassemia causes. These may affect patients differently. Thalassemia types may be classified into different categories based on their severity, effects on patients and symptoms. Thalassemia is classified into a trait, minor, intermediate and major, to describe its severity. These categories may exhibit a range where having a particular thalassemia trait means that a person will experience mild anemia symptoms or no symptoms at all. You may not even need treatment with some Thalassemia types. Thalassemia major is the most serious Thalassemia type. The patient suffering from Thalassemia usually needs regular treatment and specific medical assistance. 

There are two types of Thalassemia called Alpha thalassemia and Beta Thalassemia. The two kinds of Thalassemia are named after the defects experienced by patients in these chains.

Alpha thalassemia

A person inherits four genes, two from each of their parents. These genes combine to make alpha globin protein chains in the person’s body. A person suffers from alpha thalassemia on one or more genes being defective. The number of defective genes that are inherited will also determine whether a person will have anemia and its severity. 

  • A person with one defective or absent alpha gene will not experience symptoms. This condition is called alpha thalassemia minima.
  • In case a person has two defective or absent alpha genes, it generally results in mild symptoms if the person experiences any. This is called alpha thalassemia minor.
  • If a person has three defective or absent alpha genes, they will usually experience moderate to severe symptoms. This condition is called Hemoglobin H disease.
  • Four defective or absent alpha genes will usually result in death. In the rare cases when a newborn survives this condition, they will most likely require blood transfusions throughout their life. This condition is called hydrops fetalis with Hemoglobin Barts.

Beta thalassemia

A person gets two beta-globin genes, one from every parent. The anemia symptoms of the person and the severity of their condition depend on the number of defective genes and which part of the beta-globin protein chain has the particular defect or defects.

  • A person with one defective or missing beta gene will most likely experience only mild symptoms. This condition is called beta thalassemia minor.
  • A person with two defective or missing beta genes will suffer from moderate to severe symptoms. This condition is known as thalassemia intermedia. More severe beta thalassemia involves two gene mutations called beta thalassemia major or Cooley’s anemia.

Thalassemia prognosis 

The prognosis of most health conditions depends on different factors. Thalassemia prognosis also depends on the Thalassemia types, Thalassemia causes, symptoms of Thalassemia, the severity of the disease, the person characteristics of the person such as their age, weight, height etc., the treatment that may be given to them by the doctor, etc. 

You may generally have a normal life expectancy if you suffer from mild Thalassemia. Even if the form of Thalassemia the patient is suffering from is moderate or severe, in most cases, patients may have a good chance of surviving over the long term. This would, however, greatly depend on the patient’s symptoms and the treatment programs offered, among other characteristics. If one may like to know more about Thalassemia prognosis, you may consult your doctor about the same or a suitable medical professional. They will also guide you on what kind of treatment is ideal for you and lead to the best results.

Thalassemia in adults 

One may want to know more about Thalassemia in adults. Thalassemia affects people differently, and its symptoms depend on the patient. Thalassemia in adults may have some general symptoms. Thalassemia major patients who are adults may have a distinct clinical profile. Thalassemia in adults generally results in low BMI. Body Mass Index or BMI is the weight of a person in kilograms or pounds divided by square of their height in meters or feet. A high BMI may indicate increased fat content in a person’s body. BMI screening may be done for different weight categories could cause health problems; this may, however, not diagnose the fatness content in the body of the person or health with Thalassemia.

There are other ways that symptoms of Thalassemia in adults may affect its patients by causing generalized hyperpigmentation; most are splenectomized, have low hemoglobin, inadequate chelation and harbor transfusion-transmitted infections. An adult physician may need to be aware of this. 

Thalassemia survival rate 

One may want to know about the Thalassemia survival rate. Without close monitoring and regular treatment of the patient, the most severe types can cause serious organ damage and be life-threatening. Thalassemia survival rate was quite low till recently. It was often considered to be fatal by early adulthood in the past. However, due to medical advancements, people are much more likely to live into their 50s, 60s and beyond, even if they suffer from it.

The survival rate of people suffering from Thalassemia from birth until 10 years old was 99%. After age 20, 88% of Thalassemia patients survived until 30 years, 74% survived until 45, 68% survived until 50, and 51% survived until 55 years old.

How is a person diagnosed with Thalassemia?

A person may usually receive a moderate and severe Thalassemia diagnosis in their childhood. The diagnosis may be made early in the person’s life because the symptoms will tend to appear within first two years of a person’s life. A doctor or medical authority may do blood tests on the person to diagnose them with Thalassemia.

The tests conducted on the Thalassemia patient may involve the following:

  • A CBC or complete blood count if necessary may be carried out for the patient. This may also involve the measure of hemoglobin as well as quantity and size of red blood cells or RBCs. People with Thalassemia will have fewer healthy red blood cells and less hemoglobin than a [person usually has. Thalassemia patients may also have red blood cells that are a smaller size than a person may usually have. 
  • A reticulocyte count, which is a count of the young red blood cells in a person’s body, may be used to reveal if a person’s bone marrow is not producing a suitable amount of red blood cells or a number of red blood cells that are considered normal. 
  • Studying the iron content in the person’s body will reveal whether the cause of a person’s anemia is because of an iron deficiency or Thalassemia.
  • Hemoglobin electrophoresis may be used to diagnose a person with beta Thalassemia.
  • Genetic testing may be done to diagnose a person with alpha thalassemia.

Can I get pregnant while having Thalassemia?

One must be cautious if they are pregnant and have Thalassemia. In case you are planning on becoming pregnant, and you or a partner could carry genes for Thalassemia, it may be a good idea to seek to consult a doctor or genetic counselor. One may also be advised to do some testing as their doctor recommends.

What are complications that Thalassemia patients may experience?

Patients getting Thalassemia treatment may experience some complications that may adversely affect them. Patients must stay informed about the same in case they experience similar complications. 

Patients suffering from Thalassemia may have too much iron in their bodies and suffer from an iron overload. This would be either as a result of transfusions of blood that may be done regularly or as a result of suffering from the disease itself. Excessive iron in a person’s body may harm their heart, liver and endocrine system. The endocrine system comprises of glands that produce certain hormones. These hormones are responsible for regulation of important processes that occur in a person’s body.

A person may be prone to severe infections that may often disrupt the normal functioning of their body. This may especially occur if the patient is given a great deal of blood transfusions. These infections may be present in patients’ blood when they are given a transfusion. Doctors and medical professionals must carefully screen donors’ blood for transfusions to deter this from occurring. 

Can Thalassemia be prevented?

While a person may not You can’t prevent Thalassemia, genetic testing may help people know if they or their partner carry the gene for it. This may help people properly plan their pregnancy if they want to have children at any point in their lives. One may consult a genetic counselor for guidance. This may reduce complications for you or your child, that may suffer from Thalassemia due to the presence of the necessary gene. 

Can Thalassemia be cured?

A person undergoing Thalassemia treatment may have different options presented or discussed by their doctor or a suitable medical professional. A bone marrow transplant that is from a compatible sibling will usually be the best option for successfully curing a Thalassemia patient. However, most patients with Thalassemia are generally deprived of a suitable sibling donor. Additionally, a bone marrow transplant is quite a risky procedure. Bone marrow transplants may often result in severe complications for the person, which may also lead to their death.

One may consult a specialist for Thalassemia if you are a suitable candidate for a transplant. One may choose a high-volume hospital that handles bone marrow transplants more often. Doing so may improve their chances of being cured of their health condition. Doing this may reduce the risk of complications during the transplant or the course of your treatment.

What kind of ongoing medical assistance may I need as a patient of Thalassemia?

A patient may require frequent complete blood counts and blood iron tests to be done. The doctor or medical authority that is overlooking your treatment may recommend tests relating to the heart function and liver function on an annual basis. They may also recommend some kinds of tests to check for any kind of viral infection, because Thalassemia increases your susceptibility to infections. You may also require a yearly test for iron overload in your liver.

Thalassemia is a condition that may be treatable if the right kind of care is given to the patient. It is important to give a patient the right kind of care for the best results. The symptoms and treatments you will be provided and how often you may need them depend on the severity of your health condition. You may consult your doctor or medical professional on how your condition will determine your need for medical assistance.

Conclusion 

A person needs to try and understand medical conditions as much as possible, especially if they are suffering from them. A guardian of a patient with that medical condition may also like to be informed about it if their child or relative is struggling because of it. Being informed about a medical condition may be useful even if a doctor overlooks the patient’s treatment. The treatment will be smoother and less confusing for the patients and guardians if they know what is happening. The doctor will also be able to afford treament to a patient with more ease if the patient is able to understand the treatment they are given for their medical condition. While Thalassemia may be serious for some patients, with the right approach, one may be able to be treated for it and live a better life, free from the disease to the farthest extent possible. 

Treatment for a problem like Thalassemia can be quite expensive. Personal funds might not be enough to cover these costs. In such cases, fundraising on a platform like Impact Guru can help you cover your treatment costs, without any commitment.