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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)
Sickle Cell Anemia
Sickle cell anemia is an inherited red blood cells disorder in which the hemoglobin which carries the oxygen throughout the body gets affected. Healthy red blood cells are round, but in people with sickle cell anemia the red blood cells become sticky and hard and look like a C-shaped farm tool called a “sickle”. The sickle cells die early, which causes a continuous shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and choke the blood flow. This can lead to pain and other significant problems such as infection, stroke and acute chest syndrome.
- Molecular analysis : 2 ml of blood in an EDTA vacutainer (purple cap) collected aseptically.
- Prenatal Diagnosis : Chorionic villus sample (30-40 mg) or Amniotic fluid (20-30 ml ) or Purified DNA ( 2-3micro micrograms ) or Fetal chord blood sample ( 1-2 ml).
The samples may be sent at room temperature within 48 hrs from the sample collection time.
TRF + Form G + Form F + Clinical history*
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