Skip to content

CONTACT
Blog
News & Events
Support

Genome Foundation

Home
About us
Domain Expertise
Diagnostics
Research
Training
Register/Call/Mail NOW

Register/Call/Mail NOW bolt

Please leave this field empty.

Beta-Thalassemia

What Is Beta Thalassemia?

Introduction

Beta Thalassemia is a genetic blood disorder characterized by the reduced production of hemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. This leads to anemia, a condition where the body does not have enough healthy red blood cells. Beta Thalassemia is inherited, meaning it is passed down through families.

Types of Beta Thalassemia

Beta Thalassemia is classified into two main types, based on the severity of the condition:

Beta Thalassemia Minor: Often asymptomatic or with mild anemia. Individuals with this form typically have only one affected gene and may not require treatment.
Beta Thalassemia Major (Cooley’s Anemia): The most severe form of the disease, resulting from two mutated genes. Individuals with Beta Thalassemia Major require regular blood transfusions and other medical interventions to manage the condition.

Causes and Genetic Inheritance of Beta Thalassemia

Beta Thalassemia is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If only one mutated gene is inherited, the person will be a carrier and may not show symptoms.

People with a family history of Beta Thalassemia or thalassemia carriers are at higher risk of having children with the disorder.

Symptoms of Beta Thalassemia

Symptoms of Beta Thalassemia Major may include:

Severe anemia
Fatigue and weakness
Pale skin
Delayed growth and development
Bone deformities (especially in the face and skull)
Enlarged spleen (splenomegaly) and liver (hepatomegaly)
Iron overload (due to frequent blood transfusions)

Beta Thalassemia Minor typically causes mild anemia and may go unnoticed.

How Is Beta Thalassemia Diagnosed?

Diagnosis of Beta Thalassemia involves:

Blood Tests:
- Complete Blood Count (CBC) to check for anemia.
- Hemoglobin Electrophoresis to identify abnormal hemoglobin types.
Genetic Testing: Can confirm the presence of mutations in the beta-globin gene.

Prenatal Testing: Amniocentesis or chorionic villus sampling (CVS) can detect Beta Thalassemia in unborn babies if parents are carriers.

Treatment Options for Beta Thalassemia

While there is no universal cure for Beta Thalassemia, several treatment options help manage the symptoms and improve quality of life:

Blood Transfusions: Regular blood transfusions help provide healthy red blood cells to individuals with Beta Thalassemia Major.
Iron Chelation Therapy: Due to iron overload from frequent transfusions, patients may need medication to remove excess iron from the body.
Bone Marrow or Stem Cell Transplantation: A potential cure for Beta Thalassemia Major, but the procedure carries risks and is not suitable for all patients.
Gene Therapy: Emerging treatments that may offer long-term solutions by correcting the underlying genetic defect.

Managing Beta Thalassemia: Lifestyle and Ongoing Care

Individuals with Beta Thalassemia require lifelong medical care, including:

Regular blood tests to monitor hemoglobin levels
Consistent blood transfusions as needed
Iron chelation therapy to prevent iron overload

Regular checkups to monitor organ function (especially the heart, liver, and spleen)

Genetic Screening for Beta Thalassemia

Genetic screening can identify carriers of Beta Thalassemia and help with family planning. If both parents are carriers, they have a 25% chance of having a child with Beta Thalassemia Major. Early screening and counseling can help families make informed decisions about pregnancy and genetic risks.

Prevention and Future Outlook

Carrier Screening: Early genetic testing for Beta Thalassemia carriers is especially important in regions where the condition is more prevalent, such as parts of Asia, Africa, and the Mediterranean.
Research and Advancements: With advances in gene therapy and stem cell treatments, there is hope for more effective and curative treatments in the future.

Conclusion

Beta Thalassemia is a serious but manageable genetic blood disorder. Early diagnosis, genetic counseling, and treatment options, such as blood transfusions and iron chelation therapy, can help manage the symptoms and improve quality of life for affected individuals.

If you are concerned about Beta Thalassemia or have a family history of the condition, genetic testing and counseling can provide crucial information for making informed health decisions.

Interested in learning more or getting tested?

Get Tested for Beta Thalassemia or Consult with a Genetic Counselor Today!

Contact

pin_drop #102, Apoorva Towers, Rd. No. 2, Banjara Hills, Hyd - 500034, India
phone_in_talk +91-9704899766
mark_as_unread info@genomefoundation.in

SITE LINKS

About Us
Diagnostic Service
Research
Training
News
Support
Pay Online

DOMAIN EXPERTISE

Rare Genetic Diseases
Mother & Child-centric
Infertility Issues
Dermatology
Cancer Genetics
Cardiovascular Genetics
Gut Microbiome Testing
Dna Forensics

Accredited by

SIRO RECOGNIZED
PCPNDT RECOGNIZED
ISO 9001:2015 CERTIFIED

Quick Links

Contact Us
Testimonials
Privacy Policy
Terms Of Services

© 2023 Genome Foundation. All rights reserved

HANDCRAFTED WITH ♥ BY FLYING STARS

Success !

Thank you for sharing your feedback.
Our team will get back to you at the earliest

Post navigation

Previous: Whole Exome Sequencing (WES)