Overview
Thalassemia is a hereditary condition that affects a person's ability to create enough haemoglobin, often leading to anaemia and related complications. Many people do not realise they carry the gene until they undergo a routine blood test or plan a pregnancy. The purpose of this article is to help define thalassemia and provide information about the condition, including its causes, types, symptoms, and the importance of early diagnosis.
What is Thalassemia?
When it comes to understanding the “thalassemia meaning”, it is a genetic blood disorder that causes reduced levels of haemoglobin in the body. Haemoglobin is the protein found in red blood cells which carries oxygen throughout the body. As a result of reduced haemoglobin levels, people with thalassemia tend to experience fatigue, low energy, and other symptoms associated with anaemia. Thalassaemia is classified as either alpha thalassaemia (with two genes affected) or beta thalassaemia (with one gene affected). There are degrees of thalassemia, ranging from mild to severe, and some conditions may need long-term treatments.
Types of Thalassemia
Thalassemia types can be classified by the affected haemoglobin (alpha or beta) and the severity of thalassemia (minor, intermediate, or major).
- Alpha Thalassemia: Alpha thalassemia occurs when one or more globin genes are deleted or mutated.
- Beta Thalassemia: Beta thalassemia results from a mutation in the beta-globin gene, leading to abnormal haemoglobin production.
- Thalassemia Minor: This is a mild form of carrier state in which the person may experience mild anaemia but usually lives.
- Thalassemia Major: A severe type that must be treated and institutionalised extensively.
Thalassemia severity is determined not only by the number of defective genes but also by the presence of the mutation in one or both parents.
Causes of Thalassemia
Thalassemia happens due to genetic inheritance, meaning it is passed from parents to children through altered haemoglobin-related genes. These mutated genes lead to abnormal or reduced haemoglobin production, resulting in varying degrees of anaemia. It is important to note that thalassemia is not influenced by lifestyle choices, diet, or environmental exposure. The condition is primarily hereditary and results from genetic mutations present from birth.
Key Causes Include:
- An inherited gene mutation is received from one or both parents.
- Genetic changes affecting the body’s ability to produce haemoglobin.
- Not impacted by dietary habits, personal lifestyle choices, or environmental factors.
Symptoms of Thalassemia
The symptoms of this condition will differ depending on whether the person has a light or severe form.
- Fatigue or persistent weakness
- Pale or yellowish skin.
- Children will experience delayed growth and development.
- Bone deformities, especially in the facial area.
- Overworked blood-filtering organs can cause the spleen to enlarge.
- Shortness of breath or rapid heartbeat
Thalassemia and Fertility
The severe form of Thalassemia can create fertility problems which impact both male and female patients. Multiple blood transfusions result in iron accumulation, which interferes with pituitary hormone production. Women who have thalassemia major experience irregular or no menstrual periods, which creates obstacles for getting pregnant. The accumulation of iron in men leads to decreased sperm numbers and hormonal imbalances. Thalassemia patients who receive fertility guidance and hormonal treatment and preconception screening can successfully plan safe pregnancies despite their fertility challenges.
Thalassemia Test: How It’s Done
The thalassemia test helps determine whether a person has thalassemia or is a carrier. Doctors usually recommend this test for pregnant couples, individuals with unexplained anaemia, and families with a known thalassemia history.
Common Diagnostic Tests Include:
- Complete Blood Count (CBC): Measures haemoglobin levels, red blood cell size, and overall blood health.
- Haemoglobin Electrophoresis: Detects unusual haemoglobin variants and helps identify the specific type of thalassemia.
- Genetic Testing: Confirms carrier status or identifies haemoglobin gene mutations.
When Testing Is Recommended:
Before pregnancy, during antenatal screening, for families with a history of thalassemia, or when anaemia persists.
Thalassemia Carrier Screening Before IVF
For couples planning IVF, thalassemia carrier screening is a crucial step. The screening process determines if either or both partners carry the thalassemia gene. The risk of passing thalassemia to offspring remains low when one partner carries the gene, but the other does not. When both parents are carriers of the gene, there is a high risk that they can transmit severe thalassemia to their offspring.
PGT (Preimplantation Genetic Testing) may be advised to patients who are going for IVF treatment by the doctors who have tested positive as carriers. This thalassemia test enables doctors to select embryos that lack thalassemia, thus producing better pregnancy results and protecting the child from inheriting the disorder.
Treatment and Management of Thalassemia
Current treatment options for thalassemia enable the management of the condition, allowing patients to control their symptoms and improve the quality of their lives. The type and severity of the condition determine the treatment plan for thalassemia.
Management Options Include:
- Regular Blood Transfusions: Maintain healthy haemoglobin levels.
- Iron Chelation Therapy: This is used to eliminate extra iron in the body due to frequent transfusions.
- Folic Acid Supplements: Help produce red blood cells.
- Bone Marrow or Stem Cell Transplant: This can be a solution for severe thalassemia in a selected group of patients.
- Ongoing Monitoring: Includes heart health, hormonal levels, and organ functioning to prevent complications.
Conclusion
Timely diagnosis of thalassemia, frequent check-ups, and effective family planning measures help individuals manage the condition. Individuals who are aware of the symptoms of thalassemia, along with the testing options, can make more informed health decisions regarding themselves and their partners. Indira IVF provides comprehensive support to obtain personalised genetic counselling and fertility advice before conception.
Common Questions Asked
What is the meaning of thalassemia?
Thalassemia is a blood disorder which causes reduced haemoglobin productions and persistent anaemia.
What is a thalassemia test, and when should it be done?
A thalassemia test will detect abnormalities in haemoglobin and should be performed before pregnancy or as part of prenatal testing.
Can thalassemia affect fertility?
Yes, severe thalassemia and iron overload may disrupt hormones, which can cause problems with the male or female reproductive system.
Is thalassemia inherited from parents?
Yes, thalassemia is a hereditary disorder in which a child inherits defective haemoglobin genes from their parents.
Can thalassemia be cured completely?
A complete cure is rare, but in certain eligible patients, a cure is possible with a bone marrow transplant.
Why is thalassemia screening important before IVF?
By screening, carrier status can be detected early enough so that a couple can avoid giving birth to a child with severe thalassemia.
Can a thalassemia patient have a normal baby?
Yes, if they have the proper genetic counselling and testing, many people with thalassemia can have healthy babies.