The key difference between beta thalassemia major and minor is that beta thalassemia major occurs due to mutations in both HBB genes, while beta thalassemia minor occurs due to mutations in one of the HBB genes.
Beta thalassemia is an inherited blood disorder. Reduced levels of functional hemoglobin characterize it. Beta thalassemia may affect one or both of the beta-globin genes (HBB gene). Beta thalassemia has three main types: minor, intermediate, and major. Beta-thalassemia major (Cooley’s anemia) and beta-thalassemia intermediate are severe forms, whereas beta-thalassemia minor is a mild form of this disorder.
CONTENTS
1. Overview and Key Difference
2. What is Beta Thalassemia Major (Cooley’s Anemia)
3. What is Beta Thalassemia Minor
4. Similarities – Beta Thalassemia Major and Minor
5. Leukorrhea vs. Steatorrhea in Tabular Form
6. FAQ – Beta Thalassemia Major and Minor
7. Summary – Beta Thalassemia Major vs. Minor
What is Beta Thalassemia Major?
Beta thalassemia major is also known as Cooley’s anemia. In this form of beta thalassemia, both beta globin genes have deletions. It is the most severe form of thalassemia. The signs and symptoms of this condition may include pale or yellowish skin, yellow eyes, extreme fatigue, abdominal pain or back pain, poor appetite, many infections, dark black stool, and dark urine. Moreover, complications that result from this condition are enlargement of the spleen, liver, heart, thin and brittle bones, buildup of iron in the heart, and heart failure.
Figure 01: Beta Thalassemia
Beta thalassemia major can be diagnosed through family history, physical symptoms evaluation, blood test, and genetic testing. Furthermore, beta thalassemia major can be treated through lifelong blood transfusions, close monitoring for complications, managing iron overload (iron chelation therapy), and bone marrow and stem cell transplantation.
What is Beta Thalassemia Minor?
Beta thalassemia minor is due to a mutation in one of the beta-globin genes. A person with this condition has less severe symptoms but still can pass along the genes to their children. The possible symptoms of beta thalassemia minor may include anemia, tiredness, weakness, pale skin, poor appetite, repeat infections, abdominal swelling, and slow growth. Moreover, beta thalassemia minor does not have many complications, but it can cause a slower growth rate in children.
Figure 02: Peripheral Blood Smear from a Person with Beta Thalassemia
Beta thalassemia minor can be diagnosed through family history, physical symptoms evaluation, chorionic villus sampling or amniocentesis, complete blood count (CBC), reticulocyte testing, molecular genetic testing, and hemoglobin electrophoresis. Furthermore, treatment options for beta thalassemia minor may include blood transfusions and a supplement of B vitamin known as folic acid.
What are the Similarities Between Beta Thalassemia Major and Minor?
- Beta thalassemia major and minor are two forms of beta thalassemia, which is an inherited blood disorder.
- Mutations in the HBB cause them
- Both forms follow an autosomal recessive inheritance pattern.
- They may show similar symptoms such as anemia, pale skin, weakness, etc.
- Both forms can be diagnosed through family history, physical symptoms evaluation, blood tests, and genetic testing.
- They can be treated through blood transfusions.
What is the Difference Between Beta Thalassemia Major and Minor?
Beta thalassemia major is due to the mutation of both HBB genes, while beta thalassemia minor is due to a mutation in one of the HBB genes. This is the key difference between beta thalassemia major and minor. Furthermore, beta-thalassemia major is the most severe form of beta-thalassemia, while beta-thalassemia minor is a mild form of beta-thalassemia.
The infographic below presents the differences between beta thalassemia major and minor in tabular form for side-by-side comparison.
FAQ: Beta Thalassemia Major and Minor
What is the HB level of thalassemia minor?
The level of HB in beta-thalassemia minor is ≤ 6 g/dL (≤ 60 g/L).
Can thalassemia minor become major?
If both mother and father have beta thalassemia minor, there is about a one-fourth chance that a child will have thalassemia major.
Can thalassemia be cured?
Lifelong treatment with blood transfusions and medicine are the treatments for thalassemia. A stem cell transplant can cure thalassemia.
Summary – Beta Thalassemia Major vs. Minor
Hemoglobin is an iron-rich protein, which is the main unit in the red blood cells that helps in carrying oxygen. Beta thalassemia is an inherited blood disorder that interferes with the ability of the body to make hemoglobin. There are different forms of beta-thalassemia. Beta-thalassemia major and minor are two forms of beta-thalassemia. Beta thalassemia major is due to the mutation of both HBB genes, while beta thalassemia minor is due to a mutation in one of the HBB genes. So, this summarizes the difference between beta thalassemia major and minor.
Reference:
1. “Beta Thalassemia in Children.” Stanford Medicine Children’s Health – Lucile Packard Children’s Hospital Stanford.
2. Helmi, Nawal, et al. “Thalassemia Review: Features, Dental Considerations and Management.” Electronic Physician, U.S. National Library of Medicine.
Image Courtesy:
1. “Thalassemia Beta” By National Heart Lung and Blood Institute (NIH) – National Heart Lung and Blood Institute (NIH) (Public Domain) via Commons Wikimedia
2. “B Thalassaemia Trait (Basophilic Stippling)” By Dr Erhabor Osaro – Own work (CC BY-SA 3.0) via Commons Wikimedia