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Thalassemia Tales: Causes, Symptoms and Treatments of This Common Blood Disorder

December 3, 2020

Dark urine, pale skin and excessive fatigue; this is the stuff of super long work days and super short weekends. Or is it? While exhaustion is a natural byproduct of an overworked body, chronic fatigue and tinted urine may point to something more. In this case, thalassemia. If you haven’t heard of, or don’t know enough about the condition, this guide should see you through.

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Understanding Thalassemia

Thalassemia is a genetic blood disorder that causes the body to produce a compromised form of haemoglobin, the protein molecule responsible for transporting oxygen around red blood cells. The condition can lead to the annihilation of red blood cells and give rise to anaemia.

Thalassemia is an inherited disorder, which means that it needs to be carried by at least one parent in order to be passed down. Its existence is typically rooted in a genetic mutation or the absence of specific genetic fragments. There are three main forms of thalassemia: alpha thalassemia, beta-thalassemia and thalassemia minor, the last of which is the mildest form of the condition.

Causes of Thalassemia:

Thalassemia is caused by an abnormal mutation in one of the genes responsible for haemoglobin production. It pivots on the following:

  • Inheritance: The condition is passed on if at least one parent carries the mutation
  • Severity: If the condition is passed down from only one parent, the disease manifests in its mildest form, thalassemia minor, which seldom exhibits symptoms
  • Two-sided inheritance: If the condition is acquired from both parents, it is likely to appear as a more serious form

Symptoms of Thalassemia:

Not everyone affected by the condition displays all the symptoms of thalassemia. Common symptoms include:

  • Bone malformations: Deformities, especially centred around the face are likely
  • Tinted urine: Dark urine, along with other symptoms, is a telling indicator of thalassemia
  • Delayed growth and development: In children, developmental lags could be attributed to thalassemia
  • Excessive fatigue: Chronic fatigue and perpetual exhaustion may signal a deficiency in red blood cells
  • Yellow skin: Pale, blood-starved skin is symbolic of low iron, which is a common outcome of thalassemia

Types of Thalassemia

There are three main types of thalassemia, that each display variance in symptoms and severity:

  • Beta thalassemia:

A condition triggered by the body’s inability to produce beta globin, beta thalassemia is a combination of two mutations, one acquired from each parent. The condition can lead to severe anaemia, which can, if left untreated, be life-threatening. Beta thalassemia itself is composed of two subtypes: thalassemia major and thalassemia intermedia.

  • Alpha thalassemia:

Much like its beta counterpart, alpha thalassemia is caused by a lack of alpha globin production. The condition can lead to chronic bone disorders and cause the cheeks, forehead and jaw to overhang. Alpha thalassemia, again, is divided into two subtypes: haemoglobin H disease and hydrops fetalis.

  • Thalassemia minor:

Being the mildest form of thalassemia, people with this condition do not usually exhibit symptoms. The only visible symptom, if at all, could be minor anaemia.

Diagnosing Thalassemia:

A suspicion of thalassemia is usually corroborated by the following sequence of tests:

  • Blood sample: A blood sample is first tested for oddly shaped red blood cells, abnormal haemoglobin and anaemia
  • Haemoglobin electrophoresis: This test helps to separate the various molecules within the red blood cells and highlights potentially abnormal ones
  • Physical assessment: Thalassemia sometimes leaves telltale clues on the body. An enlarged spleen, for example, is suggestive of abnormal haemoglobin

Measures to Minimise the Effects of Thalassemia

Thalassemia can present symptoms that range from mild to severe. Accordingly, every treatment plan must be tailored to a guest’s symptoms and medical background. Some popular treatments include:

  • Blood transfusions
  • Chelation therapy to help remove extra iron from the body
  • Bone marrow transplant
  • Prescribed medication plan to augment vitamin and iron intake
  • Surgical intervention to extract spleen or gallbladder

Must Read: Beta (β) Thalassemia

Coping With Thalassemia and Infertility

Thalassemia can affect the body’s natural reproductive mechanism and impede fertility. If you have been diagnosed with thalassemia and have been planning a baby, it is important that you discuss the best way forward with your gynaecologist. It is likely that you will be put on a treatment plan where your iron levels will be religiously monitored and your thalassemia symptoms will be kept under check. In general, pregnancy entails a number of risk factors with the presence of thalassemia, including a higher risk of infections, gestational diabetes, heart conditions, hypothyroidism and low bone density.

During the lead up to and in the early stages of pregnancy, it is a good idea to lean on your close friends and family for comfort and speak to a psychologist about staying prepared for complications. There are several support groups online that you can join for inspiration and strength; hearing others’ stories can renew your spirit and open your eyes to a host of positive experiences.

Thalassemia caught early, can be managed and monitored with a thoughtful treatment plan. If you suspect that you may be a victim of the condition, schedule an appointment with a haematologist to seek a comprehensive assessment. The sooner you corner the condition, the sooner you can live life on your own terms.

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