The Impact of Thalassemia Major on Sufferers and Their Families

Oct 13, 2025 by wbrum.org 67 views

The Study of Both Parents in People with Thalassemia and Variant Hemoglobin: A Crucial Step in Preventing the Birth of a Baby with Thalassemia Major

Preventing the Birth of a Baby with Thalassemia Major: The Importance of Family Studies in Parents of Sufferers

Thalassemia and hemoglobin variant is a genetic disease caused by abnormalities in the hemoglobin, a protein that carries oxygen in the blood. This disease is inherited in an autosomal recessive manner, meaning that both parents must carry a carrier gene so that their children are born with Thalassemia major. In Indonesia, the frequency of the Thalassemia gene carrier reaches 3-10%, while Hb E, hemoglobin variants that are common in Southeast Asia, have a frequency of 1-25%.

The Impact of Thalassemia Major on Sufferers and Their Families

Thalassemia major has a significant impact on sufferers, ranging from complicated diagnosis, complex medical treatment, to severe financial and emotional burden for the family. Therefore, prevention is the main key to reduce the birth rate of the baby with Thalassemia major. The World Health Organization (WHO) recommends Family Study (Family Study) as a preventive measure in families who already have children with Thalassemia major. The aim is to find out the genetic status of parents and assist them in making decisions related to the risk of heredity.

A Cross-Sectional Descriptive Study on Family Studies in Parents of Sufferers

A cross-sectional descriptive study conducted at the Department of Clinical Pathology, Faculty of Medicine, University of North Sumatra/H. Adam Malik Hospital in 2008 involved 35 pairs of parents (70 people) out of 35 people with thalassemia and variant hemoglobin. The results show that 94.3% of the parents of parents are carriers of thalassemia (thalassemia trait) and/or Hb e heterozygous (trait). This finding confirms that Thalassemia Major arises due to marriage between two parents who carry the gene carrying the nature of the nature.

The Importance of Family Studies in Genetic Counseling

The importance of family studies in genetic counseling to prevent thalassemia major is increasingly visible from this study. Through an understanding of their genetic status, parents can make more appropriate and informed decisions related to the risk of offspring. Knowledge of genetic status can help couples to:

*Plan pregnancy: Couples can take preventive steps, such as genetic counseling and pregnancy delays, to minimize the risk of giving birth to children with major thalassemia. Choose the reproductive method: The partner can consider alternative reproductive methods such as sperm donors or eggs, or even adoption. *Prepare themselves mentally and emotionally: Knowing the risk of thalassemia major from an early age allows couples to prepare themselves mentally and emotionally to face the possibility of giving birth to children with the disease.

Additional Prevention Efforts

In addition to family studies, Major Thalassemia Prevention Efforts also include:

*Prenatal screening: Blood tests in pregnant women can help detect the presence of thalassemia in the fetus. *Genetic Counseling: Providing information and education about thalassemia and genetic risks to individuals and families. *Increasing public awareness: Increasing public understanding of thalassemia and the importance of prevention.

Conclusion

With joint efforts from various parties, it is hoped that more and more parents can avoid the burden of having children with Thalassemia major. Family studies are a crucial step in preventing the birth of a baby with Thalassemia major, and it is essential to increase public awareness and provide genetic counseling to individuals and families. By working together, we can reduce the incidence of Thalassemia major and improve the quality of life for sufferers and their families.

Recommendations

Based on the findings of this study, the following recommendations are made:

Increase public awareness about thalassemia and the importance of prevention.
Provide genetic counseling to individuals and families to help them make informed decisions about their reproductive choices.
Implement family studies as a preventive measure in families who already have children with Thalassemia major.
Increase access to prenatal screening and genetic testing to detect the presence of thalassemia in the fetus.
Provide support and resources to families affected by thalassemia major to help them cope with the emotional and financial burden of the disease.

Future Research Directions

Future research should focus on:

Conducting more studies on the genetic basis of thalassemia and its variants.
Developing more effective prevention and treatment strategies for thalassemia major.
Increasing public awareness and education about thalassemia and its prevention.
Providing more support and resources to families affected by thalassemia major.

Limitations of the Study

This study has several limitations, including:

The small sample size of the study.
The lack of control group in the study.
The limited scope of the study, which only focused on family studies in parents of sufferers.

Conclusion

In conclusion, this study highlights the importance of family studies in preventing the birth of a baby with Thalassemia major. The findings of this study confirm that Thalassemia Major arises due to marriage between two parents who carry the gene carrying the nature of the nature. The study also emphasizes the need for increased public awareness and education about thalassemia and its prevention. By working together, we can reduce the incidence of Thalassemia major and improve the quality of life for sufferers and their families.
Frequently Asked Questions (FAQs) about Thalassemia and Family Studies

Q: What is Thalassemia?

A: Thalassemia is a genetic disease caused by abnormalities in the hemoglobin, a protein that carries oxygen in the blood. This disease is inherited in an autosomal recessive manner, meaning that both parents must carry a carrier gene so that their children are born with Thalassemia major.

Q: What is the difference between Thalassemia major and Thalassemia minor?

A: Thalassemia major is a more severe form of the disease, where the individual has two copies of the mutated gene (one from each parent). Thalassemia minor, also known as Thalassemia trait, is a milder form of the disease, where the individual has one copy of the mutated gene.

Q: What is Family Study?

A: Family Study is a preventive measure recommended by the World Health Organization (WHO) to identify individuals who are carriers of the Thalassemia gene. The study involves testing the genetic status of parents and their children to determine the risk of passing on the disease.

Q: Why is Family Study important?

A: Family Study is important because it helps individuals and families make informed decisions about their reproductive choices. By knowing their genetic status, individuals can take preventive steps to minimize the risk of giving birth to children with Thalassemia major.

Q: What are the benefits of Family Study?

A: The benefits of Family Study include:

Identifying individuals who are carriers of the Thalassemia gene
Determining the risk of passing on the disease to children
Providing individuals with the information they need to make informed decisions about their reproductive choices
Reducing the incidence of Thalassemia major

Q: How is Family Study conducted?

A: Family Study is conducted by collecting blood samples from individuals and testing them for the presence of the Thalassemia gene. The test results are then used to determine the genetic status of the individual and their risk of passing on the disease.

Q: What are the risks associated with Family Study?

A: The risks associated with Family Study are minimal, but may include:

False positive or false negative test results
Emotional distress associated with learning about a genetic disorder
Stigma or discrimination associated with having a genetic disorder

Q: How can individuals prepare for Family Study?

A: Individuals can prepare for Family Study by:

Learning about the genetic disorder and its implications
Understanding the testing process and what to expect
Asking questions and seeking support from healthcare professionals and family members

Q: What are the next steps after Family Study?

A: After Family Study, individuals may need to:

Consider genetic counseling to discuss their results and reproductive options
Make informed decisions about their reproductive choices
Consider prenatal testing to determine if their child has the disease

Q: Where can individuals find more information about Family Study?

A: Individuals can find more information about Family Study by:

Consulting with a healthcare professional
Visiting the World Health Organization (WHO) website
Contacting a local genetic counseling service

Q: What are the resources available for individuals affected by Thalassemia?

A: Resources available for individuals affected by Thalassemia include:

Genetic counseling services
Support groups for individuals and families affected by Thalassemia
Online resources and educational materials
Financial assistance programs for individuals and families affected by Thalassemia

Q: How can individuals get involved in Thalassemia awareness and prevention efforts?

A: Individuals can get involved in Thalassemia awareness and prevention efforts by:

Volunteering with local organizations that support individuals and families affected by Thalassemia
Participating in fundraising events and campaigns
Sharing information about Thalassemia with friends and family members
Advocating for increased funding and support for Thalassemia research and prevention efforts.