Thalassemia

Thalassemia disease is the most common genetic blood disorder characterized by decreased hemoglobin production (anemia). It is due to the less production of alpha or beta chains of hemoglobin (Hb).

Haemoglobin (Hb) is an iron-containing protein in the red blood cells that is responsible for carrying oxygen to the different body tissues and carbon dioxide back to the lungs. It is made up of two proteins called alpha, and a beta. If the body fails to produce an adequate amount of these proteins, it affects the development of red blood cells and results in anemia that begins in early childhood and stays throughout life. Thalassemia runs in the family, it means at least one parent should be a thalassemia carrier.

Thalassemia

Thalassemia disease can be a cause of mild or severe anemia. The severity and kind of anemia are determined by the number of damaged genes.


Symptoms of Thalassemia

Symptoms and signs are likely to arise gradually, usually one to three weeks following contact to the disease

Early illness signs -

Among the signs and symptoms are:

  • Fever that begins low and gradually rises, possibly reaching 104.9 F. (40.5 C)
  • Headache
  • Weakness and exhaustion
  • Muscle pain
  • Sweating
  • Cough is dry
  • Appetite loss and weight loss
  • Stomach ache
  • Constipation or diarrhea
  • Rash
  • Stomach bloating

Late illness -

If you do not receive therapy, you may:

  • Hallucination
  • In this Thalassemia stage, you'll be still and weary, with your eyes half-closed.

At this stage, life-threatening problems are common. Signs and symptoms may reappear up to two weeks after the fever has subsided in some persons.


When to see a doctor?

When a person has early symptoms of Thalassemia such as high fever for mere than 2 days, vomiting, diarrhea etc visit your doctor immediately. The signs and symptoms of Thalassemia should not be ignored. Seek emergency medical care.


Causes

Salmonella typhi, a hazardous pathogen, causes Thalassemia fever. The bacteria that cause salmonellosis, another deadly intestinal infection, are related to Salmonella typhi, but they are not the same. The majority of persons in wealthy countries contract Thalassemia bacteria while travelling. Once infected, they can transfer the disease to others via the fecal-oral route. This means that infected persons pass Salmonella typhi in their stools and occasionally in their pee. You can get Thalassemia fever if you eat food that has been touched by someone who has the disease and hasn't cleaned their hands thoroughly after using the restroom. The majority of persons infected with Thalassemia fever in developing nations get it through drinking polluted water. The bacterium can also be transferred by contaminated food or direct contact with an affected person.


Risk Factors of Thalassemia

Following are the chances one might be prone to get Thalassemia -

  • Working in or visiting locations where Thalassemia fever is prevalent
  • As a clinical microbiologist, you'll be dealing with Salmonella typhi bacteria.
  • Have close contact with someone who has Thalassemia fever or has recently been afflicted.
  • Drink sewage-contaminated water that includes Salmonella typhi.

Prevention of Thalassemia

Thalassemia fever can be prevented and controlled with safe drinking water, good sanitation, and adequate medical care. Unfortunately, in many underdeveloped countries, achieving these goals may be challenging. As a result, vaccinations are the most effective strategy to prevent Thalassemia disease. If you live in or plan to go to locations where Thalassemia disease is a serious threat, you should get vaccinated.

Vaccines

There are two vaccinations available.

  • At least one week before travel, one is administered as a single shot.
  • One is taken orally in the form of four capsules, and one capsule every other day

Neither vaccine is guaranteed to be 100 per cent effective. Both require booster vaccinations. When going to high-risk areas, observe these instructions because the vaccine won't provide total protection:

Hands should be washed

Wash hands in hot water using soap on a regular basis is the most effective technique to prevent infection. Before eating or preparing food, and after using the restroom, wash your hands. When water isn't accessible, carry an alcohol-based hand sanitizer.

Drinking untreated water should be avoided

Drinking water contamination is a particular issue in locations where Thalassemia illness is prevalent. Try drinking bottled water, canned or bottled fizzy beverages, wine, or beer. Bottled water that has been carbonated is safer than non-carbonated bottled water.

Raw fruits and vegetables should be avoided

Avoid fruits and vegetables that you can't peel, especially lettuce, because they may have been washed in polluted water. To be on the safe side, stay away from raw foods totally.

Pick fresh and hot meals

Food that has been stored or served at room temperature should be avoided. Eat foods that are freshly cooked and hot. And, while there's no guarantee that food served in the finest restaurants is safe, it's recommended to avoid street food because it's more likely to be contaminated

Take your antibiotics as directed

Take your antibiotics according to your doctor's recommendations, and make sure you finish the entire prescription.

Hands should be washed frequently

This is the single most critical thing you can do to prevent the illness from spreading further. Scrub thoroughly for at least 30 seconds with hot, soapy water, especially before eating and after using the restroom.

Avoid touching food

Wait until your doctor confirms you're no longer contagious before preparing food for others. You won't be allowed to return to work in the food service business or a health care facility until tests confirm you're no longer shedding Thalassemia bacteria.


Diagnosis

For diagnosis of Thalassemia following factors are considered -

Medical and travel history

Based on your symptoms and medical and travel history, your doctor is likely to suspect Thalassemia fever. Salmonella typhi is usually identified in a culture of your blood, other body fluids, or tissue to confirm the diagnosis.

Bodily fluids or tissues culture

A little sample of your blood, stool, urine, or bone marrow is placed on a specific medium that promotes bacterial growth for the culture. The presence of Thalassemia germs in the culture is examined under a microscope. The most sensitive test for Salmonella typhi is often a bone marrow culture. Although a culture test is the most common diagnostic test, other tests, such as a test to identify antibodies to Thalassemia bacteria in your blood or a test to search for Thalassemia DNA in your blood, may be used to confirm a suspected Thalassemia fever infection.


Treatment

For treating Thalassemia medications such as antibiotics are prescribed. After the medication starts the patient can recover in 7 to 10 days. Antibiotics will treat Thalassemia but if in case it takes time other treatment options can be prescribed such as a surgery, it is done in case patches in intestine are torned. You might be asked for more fluid consumption it helps to avoid dehydration caused by a long-term fever and diarrhea. You may need to receive fluids through a vein if you're very dehydrated (intravenously).


Lifestyle changes and self-care

Follow some lifestyle changes and home remedies to manage Thalassemia -

  • Eat freshly cooked food.
  • Ask your doctor about what to eat and what to avoid.
  • Drink a lot of water and fruit juices to stay hydrated.
  • Drink boil water.
  • Avoid outside food, undercooked food or oily food.
  • Keep your surroundings clean.
  • Take your medicines at proper time.

Do's and Don’ts

To prevent Thalassemia one has to follow certain sets of do’s and don’ts. Follow these tips -

Do’s Don’ts
Eat home cooked food only. Don’t eat junk food, oily or deep fries food.
Drink plenty of water to stay hydrated. Don’t eat left over food or cold food.
Maintain good hygiene, keep your surroundings clean. Don’t stand in direct sunlight.
Continue to take your medication till the time it has been prescribed for. Don’t stop taking your medicine.
Wash your hands before eating anything. Don’t take foods that distress your digestive system.

Care at Medicover Hospitals

At Medicover Hospitals, we have the most trusted team of doctors and medical experts who are experienced in providing excellent healthcare services to our patients. Our dedicated team of experts, trained nurses and other paramedical staff offer the best care to a patient. We make use of advanced medical technology and state-of-the-art facilities for the diagnosis of conditions and treatment of health disorders. For the treatment of Thalassemia, we have an experinced team of doctors who diagnose and treat this condition with utmost precision that brings successful treatment outcomes.

Citations

https://www.nejm.org/doi/pdf/10.1056/NEJM197010012831406
https://www.jstor.org/stable/4453843
https://www.sciencedirect.com/science/article/abs/pii/S0140673605671814

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Frequently Asked Questions

1. What is Thalassemia?

Thalassemia is a condition you get from your parents. It makes your blood not work right because your body can't make enough of a special part in your blood called hemoglobin. Hemoglobin helps your blood carry air to your body, so when it's not right, you can feel weak and have other health issues like anemia.

2. What are the common types of Thalassemia?

Common types are Alpha thalassemia and Beta thalassemia

3. What are the causes of Thalassemia?

Thalassemia is primarily caused by genetic mutations that affect the production of hemoglobin. These mutations are passed down from parents to their children. Individuals who inherit one mutated gene are considered carriers (thalassemia trait),While individuals with thalassemia will inherit two mutated genes (one from each parent).

4. How is Thalassemia diagnosed?

Thalassemia is typically diagnosed through blood tests, including a complete blood count (CBC) and hemoglobin electrophoresis. Genetic testing can confirm the specific type and mutations involved.

5. Can Thalassemia be prevented?

Thalassemia is primarily a genetic condition, so it cannot be prevented. However, genetic counseling can help individuals with a family history of thalassemia understand their risk and make informed decisions about family planning.

6. Can people with Thalassemia lead normal lives?

Many persons with moderate forms of thalassemia can have reasonably normal lives with the right management and therapy. However, those with severe forms, such as beta thalassemia major, may require more intensive medical care and ongoing treatment.

7. Is Thalassemia contagious?

No, thalassemia is not contagious.

8. Can individuals with Thalassemia have children?

Individuals with thalassemia can have children, but there are considerations to take into account. If both partners carry the thalassemia trait, there is a risk of having a child with a more severe form of the condition.

9. What are the common symptoms of Thalassemia?

The Symptoms of thalassemia

  • Fatigue and weakness
  • Pale skin
  • Shortness of breath
  • Jaundice (yellowing of the skin and eyes)
  • Enlarged spleen and liver
  • Delayed growth and development (in children with severe forms)

10. What are the treatment options for Thalassemia?

Treatment for thalassemia depends on its type and severity. Common treatment options include Blood Transfusions, Iron Chelation Therapy,Folic Acid Supplements,Bone Marrow Transplant,Gene Therapy.