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A Description of What Thalassemia Is (In Detail)

This article is a resource guide for those who have asked “What is thalassemia?”

Please make sure you read to the end of the article to see the various links included.

Description of Thalassemia:

According to the World Health Organization, “the alpha and beta thalassaemias are the most common inherited single-gene disorders in the world.”
Harvard University explains that in order for a child to become transfusion dependent, each parent must carry a gene for thalassemia. After which, there is only a 25% chance that the child will be at risk for living with severe anemia, known as thalassemia major.”

According to the World Health Organization, “the alpha and beta thalassaemias are the most common inherited single-gene disorders in the world.”

Harvard University explains that in order for a child to become transfusion dependent, each parent must carry a gene for thalassemia. After which, there is only a 25% chance that the child will be at risk for living with severe anemia, known as thalassemia major.

Beta Thalassemia Genetics

“The clinical severity of the thalassemia in a person who inherits two thalassemia genes will depend on the amount of beta globin protein produced by the defective genes.

Some beta thalassemia genes produce reduced, but reasonable amounts of beta globin protein.

Two such genes can sometimes together produce enough beta globin protein so that the patient does not require chronic transfusions to live. This condition is called thalassemia intermedia.

A person can change clinically from thalassemia intermedia to thalassemia major at some point during their life, while no change occurs in their genetic makeup.”

Thalassemia trait can also be called thalassemia minor, which creates non-transfusion dependent anemia in a person.

If a person who has thalassemia major marries someone who does not have the genetic thalassemia trait, their children WILL have thalassemia trait or thalassemia minor.

If a person who has thalassemia major marries someone who has thalassemia trait, their children WILL all have transfusion-dependent thalassemia major.

If a person who has thalassemia trait marries someone who has thalassemia trait, their children have a 25% chance of having transfusion-dependent thalassemia major; 50% chance of having children with transfusion trait or non-transfusion dependent thalassemia minor; and 25% chance of having a child who does not carry thalassemia at all.

Thalassemia Symptoms:

  • Fussiness
  • Paleness
  • Frequent infections
  • Poor appetite
  • Failure to thrive
  • Jaundice (yellowing of the skin and whites of the eyes)
  • Enlarged organs

Low Blood Count Symptoms:

  • Dizziness
  • Shortness of breath
  • A fast heartbeat
  • Headache
  • Leg cramps
  • Difficulty concentrating
  • Depression

These Thalassemia PDFs will teach you more about the different variations of thalassemia:

  1. Alpha Thalassemia
  2. Alpha Thalassemia Trait
  3. Beta Thalassemia Major
  4. Beta Thalassemia Intermedia
  5. Beta Thalassemia Trait
  6. Sickle Cell Thalassemia
  7. Men with Thalassemia
  8. What Causes Thalassemia?
  9. Thalassemia Treatment
  10. How to Test for Thalassemia
  11. What it Feels Like to Need a Blood Transfusion
  12. Gene Therapy Thalassemia Cure
  13. Bone Marrow Transplants

How to Thrive with Thalassemia

  1. Thalassemia Nutrition
  2. Supplements for People with Thalassemia
  3. Peer Support and Thalassemia
  4. Thalassemia and Exercise
  5. How to Cope with Blood Transfusions

People who have transfusion-dependent thalassemia major also require daily medication to remove excess iron from their body.

According to the National Institute of Health, “Excess iron is stored in the body’s tissues and organs, particularly the skin, heart, liver, pancreas, and joints.

Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs.”

Here is a PDF that explains Iron Overload – this PDF is for people who have a similar disorder to thalassemia, but the information about iron overload is universal and pertains to all.

Symptoms and Diseases of Iron Overload:

  • Chronic fatigue
  • Joint pain
  • Abdominal pain
  • Liver disease
  • Diabetes mellitus
  • Irregular heart rhythm
  • Heart attack or heart failure
  • Skin color changes (bronze, ashen-gray green)
  • Loss of period
  • Loss of interest in sex
  • Osteoarthritis
  • Osteoporosis
  • Hair loss
  • Enlarged liver or spleen
  • Impotence
  • Infertility
  • Hypogonadism
  • Hypothyroidism
  • Depression
  • Adrenal function problems
  • Elevated blood sugar
  • Elevated liver enzymes
  • Elevated iron (serum iron, serum ferritin)

This article is meant to spread awareness of thalassemia and provide resources to those interested in learning about transmission, prevention, and treatment of thalassemia.

Please share this article with anyone who might want to learn more about thalassemia. Then ask them to share.

Sources:

To spreading awareness,
Josephine

About the Author

Josephine Bila

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I’m Josephine Bila, LMSW, a licensed social worker for you — the health seeker who craves an energized body, strong relationships, and the willpower to overcome any obstacle.

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