About 300,000 babies are born every year with sickle cell anemia. Experts predict this number will pass 400,000 by 20501
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.
When should you get tested?
- Sickle cell anemia testing is a routine part of newborn screening programs in many countries. Individuals belonging to populations with a higher prevalence of the disease, such as individuals of African, Mediterranean, Middle Eastern, Caribbean, Indian, and Southeast Asian descent.
- Individuals or couples who are planning to have children, especially if they belong to high-risk ethnic groups or have a family history of sickle cell disease.
- If there is a known family history of sickle cell anemia or if a sibling has been diagnosed with the condition, testing may be recommended for other family members to determine carrier status or confirm the presence of the disease.
- Individuals presenting with symptoms such as anemia, chronic pain, recurrent infections, delayed growth, or other related complications.
Test specification
| Technique | Variant types | TAT | Sample requirements |
|---|---|---|---|
| Sanger sequencing | Mutation | 3 - 4 weeks | 2 ml EDTA Blood / 2 ug DNA |