Thalassemia

thalassemia infant

Last Updated December 20th, 2021

Overview of Thalassemia

Blood constitutes about 7-8% of the body weight and is significant for the functioning of different organs in the body. This implies if something goes wrong with the blood, the functioning of more than one organ is negatively impacted causing adverse side-effects to one’s health. Preventive measures can be implemented to reduce the symptoms and complications of blood disorders to an extent, but despite that many can be fatal. Blood disorders can affect men, women, and children equally.

When any of the main components of the blood, red blood cells (RBCs), white blood cells (WBCs), plasma and platelets, have noticeable abnormalities, they cause a blood disorder or hematologic disorder. Many of these disorders may be genetic. Thalassemia is one such disorder that results in an abnormal form of hemoglobin, which is an essential component of blood. It results in anemia and jaundice-like symptoms. In the year 2013, the disease as detected in 208 million people and resulted in 25,000 deaths.

 

What is Thalassemia?

thalassemia hemoglobinThalassemia derives its name from a Greek word “Thalassa” which means “sea”. Thalassemia is a genetic blood disorder caused by the poor or abnormal formation of hemoglobin which is the most integral component of blood. Hemoglobin is mainly found in the red blood cells and transports oxygen to the different tissues and vital organs of the body. The thalassemic gene is passed on to the children from the parents, both of whom or either of whom can be the carriers.

Thalassemia mainly presents as inherited single gene disorders that arise mutations in certain essential genes. Mainly two distinct categories of the disease have been identified so far- alpha and beta thalassemia. A third category called the delta-thalassemia also exists. In some instances, the disease may present as a combination of hemoglobinopathies.

Alpha-thalassemia

This typically occurs due to mutations in the genes HBA1 and HBA2. It arises from the occurrence of excess beta globin chains due to a reduced generation of the alpha chains from the alpha globin genes. The degree of inhibitory action of the genes depends mainly on the clinical phenotype that is observed.

What causes alpha thalassemia?

Alpha-thalassemias are mostly associated with the deletions in the chromosome 16p. These are generally inherited in a recessive manner.

What are the main signs and symptoms?

Alpha-thalassemias typically present with the following symptoms-

What are the common types of alpha-thalassemia?

Alpha-thalassemias are typically categorized into the following types-

  • Type 1: This is also known as alpha thalassemia silent and it does not have much effect on haemoglobin synthesis. It arises from a deletion or a non-deletion mutation.
  • Type 2: This type is characterized by microcytic hypochromic anemia. This type is often confused with iron-deficiency anemia. Type 2 may arise from the deletions of the alpha genes on the same chromosome or different chromosomes.
  • Type 3: Type 3 is also known as Haemoglobin H disease, wherein two unstable hemoglobins are present in the blood. These are- Haemoglobin H and Haemoglobin barts. The patients may suffer from microcytic anemia and hepatosplenomegaly.
  • Type 4: This type is also known as alpha Thalassemia major. The fetuses have edema and the amount of circulating hemoglobin is very less in their bodies.

 

Beta Thalassemia

These types of thalassemias are caused by a reduced or a complete absence of the synthesis of the beta chains of hemoglobin.

What causes Beta Thalassemia?

Beta Thalassemias are the outcomes of two distinct categories of mutations. These are-

  • Non-deletion mutation: Here, single-base substitution or small insertions near the beta globin gene.
  • Deletion mutation: This involves the purging of the different beta globin genes.

What are the main signs and symptoms?

  • Anaemia
  • Poor growth
  • Skeletal abnormalities
  • Heart failure
  • Liver cancer

What are the different types?

Thalassemia testBeta Thalassemias are classified into the following types-

  • Thalassemia major: This typically manifests as microcytic, hypochromic anemia. It occurs when both the alleles have Thalassemia mutations. It may lead to enlargement of the spleen and severe bone deformities in future.
  • Thalassemia minor: Here, only one of the beta globin alleles has mutations. The patients suffer from microcytic anemia.
  • Thalassemia intermedia: The patients, in this case, can lead normal lives, but may require blood transfusions occasionally.

 

Delta Thalassemia

In this types mutations occur that can inhibit the generation of delta chains.

Haemoglobinopathies

Thalassemia can coexist with certain other hemoglobinopathies. The most common types are-

  • Haemoglobin E Thalassemias: The symptoms are similar to that of Thalassemia major.
  • Haemoglobin S Thalassemias: The patients, in this case, suffer from splenomegaly and sickle cell anemia.
  • Haemoglobin C Thalassemias: It causes hemolytic anemia with splenomegaly.
  • Haemoglobin D Thalassemia

 

What are the different diagnostic tests?

thalassemia infantPhysical procedures are first done where the doctor check for enlargement of different lymph nodes and unexplained blood clots.

Thalassemia and other blood disorders are also diagnosed by blood tests. Different components of the blood are checked and cell counts recorded.

  • RBC, WBC, and platelet cell count is examined
  • Different proteins present in the blood
  • Amount of hemoglobin present in RBCs. 

 

How can the disease be treated? Is it preventable?

Till date, there is no absolute cure for Thalassemia and other blood disorders. Those detected at an early stage can be treated through blood transfusion and bone marrow transplant. This can actually increase the life expectancies of the patients to a certain extent.

Thalassemia can affect males and females alike. It is usually present right from the birth. Genetic testing in the prenatal stage can detect the presence of the disease. Continuation of pregnancy in such cases should be done only after consultation with a doctor. The ethical concerns should be carefully considered in such cases.

 

Facts

  • There are two categories in which thalassemia can be divided – alpha thalassemia and beta thalassemia; according to the type of haemoglobin component missing from the blood.
  • Having severe childhood anemia is the most noticeable symptom for detecting thalassemia.

Facts

  • This condition is also known by other names such as Constant Spring, Cooley’s anemia, and Hemoglobin Bart Hydrops Fetalis.
  • It is transmitted only by genetic inheritance. It is the most common genetic disorder found in general population.

Facts

  • More than 8,000 babies are born with thalassemia every year in India making it the thalassemia capital of the world.
  • 1 out of every 4 bone marrow transplants is done to treat thalassemia.
  • This condition is widespread in south-east Asian countries.

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Dos and Don'ts

Dos
  • Consume anti-oxidants in form of tablets. Also, include more of zinc-containing food items in your diet such as fish and dairy products.
  • Thalassemia patients require multi-disciplinary care in order to continue a healthy life
  • Have a muscle-building exercising routine.
Don'ts
  • Consume foods which have high iron content. These include beans, liver, tofu, beef, pork, shellfish, broccoli, legumes etc.
  • Consume high vitamin C foods such as citrus fruits since they facilitate increased absorption of iron in the body.
  • Start a family without consulting a genetic counselor, if you or your partner has a family history of thalassemia

 

 

 

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Power up your gut: 8 proven steps on how to improve your digestion Did you know you have a colony of bacteria in your gut that help you in digesting food?…
low fodmap plan
Troubled with IBS? Here’s a complete roadmap to the low FODMAP diet Leaky & inflammatory gut troubling you? No medicine bringing you relief from the pain? Why not try the…
Kava: Is it the healthy substitute for alcohol you have been waiting for? Native to the beautiful South Pacific islands, Kava is a famous beverage rooted in the local culture. It…
Find all the instant ways to get rid of blackheads Blackheads - Not only are they aesthetically unappealing but if left untreated these can cause bacterial overgrowth on…
Epley maneuver: Why is this the best protection from the symptoms of vertigo? Epley maneuver is an exercise that can treat the symptoms of benign paroxysmal positional vertigo (BPPV).  It was…
Tart Cherry: The healthiest excuse for taking that second serving of pie Tart cherry has been traditionally used in delectable desserts such as pies. Recent studies have revealed that its…
Ear pain model
Easy and safe tips for ear wax removal you can do at home Cerumen impaction generally occurs when an external object like cotton swabs are used to remove the ear wax.…
Atkins diet weight loss
Atkins Diet: The right steps to carb control that can help you lose those pounds fast The Atkins diet is a high fat, low-carb diet with proven weight loss benefits that is flexible enough…
blood elements analysis
Blood Element Analysis Test A blood element analysis is a blood test performed to measure the level of toxic elements such as…
PROGESTERONE_test
Progesterone test The progesterone test is a blood test used to determine the level of hormone progesterone in the blood…
HSV-1_IGG
Herpes Simplex Virus I (HSV)-IgG Test Herpes simplex virus I(HSV)-IgG is an Immunoglobulin protein that acts as an antibody & stays in the blood…
Okra: How can this nutrient-dense vegetable help you fight diabetes? Okra is a food which is rich in nutrients and minerals which are extremely essential for a healthy…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
pilonidal sinus
Pilonidal sinus Pilonidal sinus is more common in young men than women. Learn about treatment options, surgical management, risks, and…
dance health benefits
5 unbelievable effects of dance on your overall health! You enjoy dancing, but did you know what else it does to your body? Dancing is not only…
Pescatarian Diet 101: What are the inherent health advantages of this diet? People opt to become a pescatarian in order to enrich their bodies with the essential health benefits that…
Inversion Therapy: The anti-gravity way of healing chronic back pain Inversion therapy involves suspending a person upside dow using different types of equipment. This works by taking the…
The Cabbage Soup Diet: The healthiest way to instant weight loss Cabbage soup diet rapid weight loss diet for those who want to shed those extra pounds in less…
reflexology massage
Top reasons why you should go for a reflexology massage today Reflexology involves the application of pressure to your feet and hands to encourage self-healing. Could this be beneficial…
Bone marrow aspiration Bone marrow aspiration is a process where a sample of the bone marrow is withdrawn from the bone…
C-Reactive Protein Test A CRP or c-reactive protein blood test is an important diagnostic tool used to determine the risk of…
malarial antigen test
Malaria Antigen Test A malaria antigen test is a rapid diagnostic test (RDT) that can detect malarial antigens (proteins) in your…
lipase test
Lipase Test A lipase test is a blood test performed to quantitatively measure the level of the enzyme lipase in…
shiitake mushrooms healthy
What are Shiitake Mushrooms and why should you eat them? Shiitake Mushrooms are well known for their smoky and robust taste. However, did you know they are replete…
Sushi: health benefits and recipes Sushi is a traditional Japanese dish prepared with vinegared rice served with fish (often raw), vegetables, and other…