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What is thalassemia?

2026-01-14 19:53:30 Mother and baby

What is thalassemia?

Thalassemia is a hereditary blood disease that mainly affects the synthesis of hemoglobin, resulting in abnormal red blood cell function. In recent years, with the popularization of health knowledge, attention to thalassemia has gradually increased. This article will introduce in detail the causes, symptoms, diagnosis and treatment of thalassemia, and provide hot topics and hot content in the past 10 days.

1. Causes of Thalassemia

What is thalassemia?

Thalassemia is caused by a genetic mutation that results in insufficient or missing synthesis of hemoglobin chains. Thalassemia is mainly divided into alpha and beta types based on the type of hemoglobin chain affected.

TypeAffected genescommon areas
alpha thalassemiaHBA1, HBA2Southeast Asia, Africa
beta thalassemiaHBBMediterranean coast, Middle East

2. Symptoms of thalassemia

The symptoms of thalassemia vary depending on the type and severity. In mild cases, there may be no obvious symptoms, while in severe cases, severe anemia, hepatosplenomegaly, etc. may occur.

Symptom typeMildSevere
anemiaslight fatigueSevere fatigue and paleness
HepatosplenomegalyNoneSignificant swelling
Skeletal deformitiesNonecommon

3. Diagnosis of thalassemia

Thalassemia is diagnosed mainly through blood tests and genetic testing. The following are common diagnostic methods:

diagnostic methodsDescription
Blood routineCheck the number and shape of red blood cells
Hemoglobin electrophoresisAnalyze hemoglobin type
genetic testingConfirm genetic mutation

4. Treatment of Thalassemia

Treatment of thalassemia mainly includes blood transfusions, medications and bone marrow transplants. The following are common treatments:

TreatmentApplicable peopleEffect
regular blood transfusionsSevere patientsrelieve anemia
iron chelating agentLong-term blood transfusion patientsReduce iron overload
bone marrow transplantmatched donorA radical cure is possible

5. Hot topics and content in the past 10 days

The following are hot topics and hot content about thalassemia in the past 10 days:

Datehot topicsheat index
2023-11-01New breakthrough in gene therapy for thalassemia★★★★
2023-11-03Thalassemia screening included in pregnancy test★★★
2023-11-05Survey on the quality of life of patients with thalassemia★★
2023-11-08Thalassemia public welfare activities★★★

6. Measures to prevent thalassemia

Thalassemia is a hereditary disease, and the key to prevention lies in genetic screening and genetic counseling. Here are the precautions:

measuresDescription
premarital screeningTest whether both parties carry mutated genes
prenatal diagnosisDetecting fetal disease during pregnancy
genetic counselingProvide fertility advice

Conclusion

Thalassemia is a serious genetic disease, but with scientific diagnosis and treatment, patients' quality of life can be significantly improved. The public should increase their awareness of thalassemia and actively participate in screening and prevention to reduce the occurrence of the disease.

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