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Sickle cell anaemia is an inherited blood disorder, with ~50% of the global cases arising in India. The condition is caused by a faulty "sickle gene" which is inherited in autosomal recessive mode- a single copy of this gene causes sickle cell trait (benign) and two copies cause sickle cell anaemia.(Haemoglobinopathies/Blood disorders)

Beta Thalassemia

About :

Thalassemia is an inherited blood disorder caused when the body doesn’t make enough of an important part of red blood cells called hemoglobin. The function of red blood cells is to carry oxygen to all the cells of the body. When there isn’t enough hemoglobin, the red blood cells don’t function properly and they live for shorter periods of time. Because of this there is also not enough oxygen delivered to all the other cells of the body. This may cause a person to feel tired, short of breath or weak. This condition is called anemia.

There are two types of Thalassemia based on which part of the protein got affected. If the Beta part of the hemoglobin is not made then it is called Beta thalassemia.

Sample type:

  1. Molecular analysis : 2 ml of blood in an EDTA vacutainer (purple cap) collected aseptically.
  2. Prenatal Diagnosis : Chorionic villus sample (30-40 mg) or Amniotic fluid (20-30 ml ) or Purified DNA ( 2-3micro micrograms ) or Fetal cord blood sample ( 1-2 ml).

Transportation :

The samples may be sent at room temperature within 48 hrs from the sample collection time.

TAT:

7-10 Days

Note :

TRF + Form G + Form F + Clinical history*

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