Thalassemia is one of the most common blood disorders in India. This problem of blood prevents the blood from making healthy red blood cells. And due to this, the blood is not able to make sufficient hemoglobin. Another problem with this blood disorder is that it is inherited, which means, if a parent has this blood problem, the child will have it too. Awareness of this blood disorder is required in India. Let’s check symptoms, treatment, and other details below.
Table of Contents
Causes of Thalassemia
Thalassemia is a genetic disorder. The main reason for thalassemia is a defect in the genes that control hemoglobin production.
- Genetic Inheritance
- Thalassemia is passed from parents to children.
- A person becomes a carrier if one parent passes the gene.
- A person develops the disease if both parents pass the gene.
- Mutation in Hemoglobin Genes
- The mutation affects hemoglobin chains (alpha or beta).
- Faulty hemoglobin causes poor oxygen flow in the body.
- Ethnic and Regional Factors
- People from certain regions like Gujarat, Punjab, Bengal, and South India are more likely to carry thalassemia genes.
- Communities with high inter-cousin marriages have more thalassemia cases.
Types of Thalassemia
Different types of thalassemia depend on which part of the hemoglobin is affected.
| Type | Description |
|---|---|
| Alpha Thalassemia | Caused by a mutation in alpha-globin genes; common in Southeast and South Asia. |
| Beta Thalassemia | Caused by a mutation in beta-globin genes; common in India and the Mediterranean. |
| Thalassemia Minor | Carrier state; no major symptoms; may have mild anemia. |
| Thalassemia Major | Severe form; requires regular blood transfusions; also called Cooley’s anemia. |
| Thalassemia Intermedia | Milder than major; occasional transfusions needed. |
Symptoms of Thalassemia
Symptoms vary depending on the type and severity of the disorder.
- Mild Symptoms (Thalassemia Minor)
- Fatigue
- Pale skin
- Slight anemia
- Severe Symptoms (Thalassemia Major)
- Growth delays
- Bone deformities (especially in the face)
- Dark urine
- Yellowish skin or eyes (jaundice)
- Enlarged spleen
- Frequent infections
Diagnosis of Thalassemia
Early diagnosis can help with better treatment and prevention.
| Test Name | Purpose |
|---|---|
| Complete Blood Count (CBC) | Measures levels of hemoglobin and red blood cells. |
| Hemoglobin Electrophoresis | Identifies types of abnormal hemoglobin. |
| Iron Studies | Checks if anemia is caused by iron deficiency or thalassemia. |
| Genetic Testing | Detects mutations in the hemoglobin genes. |
| Prenatal Testing | Detects thalassemia in unborn babies through chorionic villus sampling. |
Prevention of Thalassemia
Prevention is key to reducing the number of new cases in India.
- Awareness and Education
- School and community programs should educate people about thalassemia.
- Pre-marital and pre-pregnancy counseling should be promoted.
- Carrier Screening
- Screening before marriage can identify carriers.
- Couples who are both carriers are advised to take precautions.
- Prenatal Diagnosis
- Testing during early pregnancy helps detect the disorder in the fetus.
- Couples can make informed decisions based on the results.
- Avoiding Marriages Between Carriers
- Marrying someone who is not a carrier reduces the risk of having an affected child.
Management of Thalassemia
Proper management helps patients live longer and healthier lives.
| Management Method | Details |
|---|---|
| Blood Transfusions | Regular transfusions maintain healthy hemoglobin levels. |
| Iron Chelation Therapy | Removes extra iron from the body caused by repeated blood transfusions. |
| Folic Acid Supplements | Help build red blood cells and fight anemia. |
| Bone Marrow Transplant | Only cure available; best results in younger patients with a matching donor. |
| Gene Therapy (Emerging) | A promising future treatment still under research and trials. |
| Proper Diet | A healthy diet low in iron-rich foods is advised. |
| Vaccination | Protects patients from infections due to low immunity. |
| Regular Monitoring | Regular check-ups to track growth, spleen size, and iron levels. |
Government Support in India
Support from the Indian government helps families manage the cost and treatment.
- Free Blood Transfusions
- Many state governments offer free transfusions in government hospitals.
- Financial Assistance Schemes
- Some states provide monthly aid to thalassemia patients.
- Awareness Campaigns
- Health departments conduct awareness drives in schools and rural areas.
- Free Carrier Testing
- Government hospitals offer free testing for college students and newlyweds.
Challenges in India
India faces many problems in handling thalassemia.
- Lack of Awareness
- Many people are unaware they are carriers.
- Limited Access to Testing
- Rural areas often lack proper testing and diagnosis centers.
- Shortage of Donors
- Finding matching bone marrow donors is difficult.
- Cost of Treatment
- Long-term treatments like transfusions and chelation are expensive.
- Stigma and Social Issues
- Families may hide the condition due to social pressure or fear of marriage issues.
Role of NGOs and Organizations
Non-Governmental Organizations (NGOs) help bridge the gap in services.
| NGO Name | Contribution |
|---|---|
| Thalassemics India | Offers free screening, counseling, and awareness programs. |
| Think Foundation | Promotes blood donation and organizes camps for children with thalassemia. |
| Sankalp India Foundation | Provides high-quality care and treatment at low cost. |
| DATRI | Runs India’s largest bone marrow donor registry. |
| IAPSM & NACO Programs | Work with the government to integrate thalassemia care into public health. |
Summing Up
Thalassemia is one of the common blood disorders in India. The awareness of the causes, symptoms, treatment, and precautions can help people avoid Thalassemia. The Indian government is taking proper precautions for the better health of the people. The affected people must go for the blood test and consult the doctor.
