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Thalassemia: Know about-Causes,Symptoms &Diagnosis

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World Thalassemia Day was observed on Monday to raise awareness about the genetic disease. The blood disease is caused by genetic defects in the patient’s body that result in the production of an abnormal form of haemoglobin.
International Thalassemia Day is observed on 8th of May every year to increase the awareness about this disease, preventive steps and measures to avoid its transmission.

THALASSEMIA

Thalassemia is an inherited blood disorder

It disrupts the normal production of hemoglobin and healthy red blood cells

Low hemoglobin and fewer red blood cells cause anemia

THALASSEMIA MAJOR

Life of a red blood cell is much shorter than a normal life of 120 days, in a Thalassemia Major

Blood transfusion is required after every 2 to 4 weeks, throughout life

Iron chelation Therapy is required to extract extra iron

SYMPTOMS OF THALASSEMIA MAJOR

Fatigue

Weakness

Pale skin

Lethargy

Jaundice

Retarded growth

Enlarged liver and spleen

Abdominal swelling

Dark urine

Severe anemia

Loss of appetite

Frequent infections

Thalassemia Minor or Carrier are normal and usually have no symptoms. However, Symptoms in thalassemia major occur within six months after birth.

THALASSEMIA MAJOR: COMPLICATIONS

Iron overload

Risk of transfusion transmitted infections like HIV,

Hepatitis B & C

Risk of Liver or Heart failure

Endocrine problems

THALASSEMIA PREVENTION

Testing for Thalassemia carrier status before marriage or conception

Get blood tested for HbA2 / Hb Electrophoresis / Hb HPLC, if planning a child

If both, husband and wife are normal then no precaution is required

If one is thalassemia carrier, the partner should not be a carrier

If both are carrier then antenatal diagnosis for thalassemia may be done at 8 till 10 weeks of pregnancy

Knowing your thalassemia status before marriage, Getting the thalassemia testing done before conception and thalassemia screening in the pregnant mothers may help to prevent thalassemia.

IANS

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