Genotype Testing For Sickle Cell Disease in Kenya

Genotype testing for sickle cell disease in Kenya is an important component of the management of Sickle cell disease (SCD). It’s an important public health concern in Kenya, affecting an estimated 14,000 newborns each year. SCD is an inherited blood disorder that can cause severe pain, serious infections, and other complications. Early diagnosis through newborn screening and comprehensive care are crucial for improving outcomes for children with SCD in Kenya.

What is Sickle Cell Disease?

SCD is caused by a mutation in the haemoglobin gene that leads to the production of abnormal haemoglobin called haemoglobin S (HbS). The mutation causes a change in the protein structure of the hemoglobin molecule. The single point mutation causes substitution of the amino acid glutamine for valine.

This causes red blood cells to become sickle or crescent-shaped, especially when exposed to low oxygen in the blood. These abnormally shaped red blood cells cannot deform easily leading to the blocking of blood vessels and reducing oxygen delivery to tissues. There are several types of SCD, including:

• Sickle cell anaemia (HbSS): This is the most common and severe form, where a person inherits two sickle cell genes, one from each parent.
• Sickle-hemoglobin C disease (HbSC): This occurs when a person inherits one sickle cell gene and one gene for another abnormal haemoglobin called haemoglobin C.
• Sickle beta-thalassemia (HbS/β-thalassemia): This occurs when a person inherits one sickle cell gene and one gene for beta-thalassemia, another inherited blood disorder.

READ MORE: Role of laboratory diagnosis of Sickle cell disease

Genotype Testing for Sickle Cell Disease

Genotype testing is used to determine a person’s genetic makeup, including whether they have sickle cell disease, sickle cell trait, or are unaffected. In Kenya, genotype testing is recommended for all newborns as part of routine screening. The most common genotypes related to sickle cell disease are:

• AA (normal): Both genes are normal, no sickle cell trait or disease.
• AS (sickle cell trait): One normal gene and one sickle cell gene. People with sickle cell trait are generally healthy but can pass the sickle cell gene to their children.
• SS (sickle cell anaemia): Two sickle cell genes, one inherited from each parent. This causes sickle cell disease.
• SC, S/β-thalassemia, and other less common genotypes can also cause sickle cell disease.

Who Should undergo Genotype Testing For Sickle Cell Disease in Kenya?

Newborns

• Genotype testing for sickle cell disease is recommended for all newborns in Kenya as part of routine screening. This allows for early diagnosis and intervention.

Couples Before Marriage

• The Jaramogi Oginga Odinga Teaching and Referral Hospital (JOOTRH) is pushing for mandatory genotype testing for couples before marriage. This is to identify if both partners carry the sickle cell trait, which would put any children at high risk of inheriting sickle cell disease.

Individuals with Family History

• People who have a family history of sickle cell disease or sickle cell trait should also undergo genotype testing, even if they do not have symptoms. This can help identify carriers and guide family planning decisions.

Importance of Early Diagnosis and Treatment

Early diagnosis through newborn screening is critical for managing sickle cell disease in Kenya. Babies identified with SCD can receive early interventions such as:

• Prophylactic penicillin to prevent infections
• Immunizations
• Hydroxyurea to reduce complications
• Prompt treatment for pain crises and other complications

Comprehensive care from a multidisciplinary team of doctors, nurses, and other healthcare providers can help children with SCD in Kenya live healthier lives.

Conclusion: Importance of genotyping for sickle cell

Sickle cell disease is a major public health issue in Kenya, but early diagnosis through genotype testing and comprehensive care can greatly improve outcomes for affected children. If you are pregnant or planning a pregnancy, talk to your doctor about sickle cell screening and testing.

Disclaimer

The information provided on this medical blog is for general informational purposes only and should not be considered as a substitute for professional medical advice. Always consult with a qualified healthcare provider before making any healthcare decisions or taking any actions based on the information provided on this blog. The authors and publishers of this blog are not liable for any errors or omissions in the content or for any actions taken based on the information provided.