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  Oct 11, 2018

Sickle-Cell Disease Diagnosis

The diagnosis of sickle cell disease usually involves a blood test that is analysed for defected genes or haemoglobin cells. There are also several screening programs to promote an early diagnosis of the disease, including prenatal and antenatal screening.

As sickle cell disease is an inherited genetic condition, it is essential that a complete family medical history be gathered. In particular, both parents must be carriers of the disease for the child to be affected by sickle cell disease.

Blood Test Diagnosis

Sickle cell disease can be diagnosed with a blood test, which is analysed with haemoglobin electrophoresis and other techniques to determine if the defective type of haemoglobin is present in the blood. A trace amount of defective haemoglobin in the blood sample suggests that the individual carries the genetic trait, whereas a high level represents the presence sickle cell disease.

Newborn Screening

All babies born in most developed countries are currently offered screening for sickle cell disease, shortly following the birth. This is offered as a component of the newborn blood spot test, which is also sometimes referred to as the heel prick test. If the test is foun