Understanding Alpha Thalassemia: A Comprehensive Guide

Alpha thalassemia (AT) is a genetic blood disorder that affects individuals born with a gene mutation. This booklet aims to educate readers about AT, enabling them to have informed conversations with their medical team about their condition and treatment options.

What is Alpha Thalassemia?

AT is a lifelong condition that occurs when an individual inherits a genetic mutation from both parents. Carriers of the gene mutation, who inherit it from one parent, do not have the condition themselves but can pass it on to their children. The likelihood of having a child with AT increases if both parents are carriers.

AT is more prevalent among individuals with ancestry from Southeast and South Asia, Africa, the Middle East, and the Mediterranean.

Genes and Genetic Inheritance

There are two pairs of genes involved in AT, and individuals can have one, two, three, or four gene mutations. The genes can be either missing or damaged, affecting the severity of the condition. The number and type of gene mutations determine the severity of AT.

Types of Alpha Thalassemia

AT can be classified into four types, depending on the number of gene mutations:

• One gene change: Mild form of AT
• Two gene changes: Moderate form of AT
• Three gene changes: Severe form of AT
• Four gene changes (AT major): Typically fatal before or shortly after birth without medical intervention

AT major can be managed with proper treatment, allowing individuals to live with the condition.

Screening and Diagnosis

Early detection and diagnosis are crucial in managing AT. Genetic counseling and screening can help identify carriers and individuals with the condition.

Symptoms and Treatment

Symptoms of AT vary depending on the severity of the condition. Treatment options include medication, blood transfusions, and bone marrow transplants. Clinical trials are ongoing to develop new treatments for AT.

Living with Alpha Thalassemia

Individuals with AT can lead active lives with proper management and treatment. It is essential to work closely with healthcare professionals to develop a personalized treatment plan.

This booklet provides a comprehensive overview of alpha thalassemia, empowering individuals and families affected by the condition to take control of their health and well-being.

Product Details:

Publisher: S. Karger Publishing

Publication Date: March 22, 2023

Language: English

Format: Paperback

Pages: 48

ISBN-10: 3318071501

ISBN-13: 978-3318071504